Name

RNU7-36P Gene

RNA, U7 small nuclear 36 pseudogene

CTD-3080P12.3 Gene

uncharacterized LOC101928857

RNU6-36P Gene

RNA, U6 small nuclear 36, pseudogene

CH17-340M24.3 Gene

uncharacterized protein BC009467

RNU7-32P Gene

RNA, U7 small nuclear 32 pseudogene

RNU7-33P Gene

RNA, U7 small nuclear 33 pseudogene

RNU6-39P Gene

RNA, U6 small nuclear 39, pseudogene

RNU7-38P Gene

RNA, U7 small nuclear 38 pseudogene

RNU7-30P Gene

RNA, U7 small nuclear 30 pseudogene

RNU6-31P Gene

RNA, U6 small nuclear 31, pseudogene

RNU7-35P Gene

RNA, U7 small nuclear 35 pseudogene

RNU6-34P Gene

RNA, U6 small nuclear 34, pseudogene

CH17-351M24.1 Gene

uncharacterized LOC644767

DUPXQ27.3Q28 Gene

Chromosome Xq27.3-q28 duplication syndrome

RNU7-37P Gene

RNA, U7 small nuclear 37 pseudogene

CTB-30L5.1 Gene

uncharacterized LOC102724339

RNU6-35P Gene

RNA, U6 small nuclear 35, pseudogene

CH17-360D5.1 Gene

neuropeptide Y receptor type 4-like

RNU7-34P Gene

RNA, U7 small nuclear 34 pseudogene

CTC-338M12.4 Gene

uncharacterized LOC101928649

RNU6-30P Gene

RNA, U6 small nuclear 30, pseudogene

CTB-3M24.3 Gene

uncharacterized LOC105379180

RNU7-39P Gene

RNA, U7 small nuclear 39 pseudogene

RNU7-31P Gene

RNA, U7 small nuclear 31 pseudogene

MIR7-3HG Gene

MIR7-3 host gene

RNU6-33P Gene

RNA, U6 small nuclear 33, pseudogene

DIAPH2 Gene

diaphanous-related formin 2

The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

DIAPH1 Gene

diaphanous-related formin 1

This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DIAPH3 Gene

diaphanous-related formin 3

This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

FHOD1 Gene

formin homology 2 domain containing 1

This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. [provided by RefSeq, Jul 2008]

FHOD3 Gene

formin homology 2 domain containing 3

Proteins that contain formin (FMN1; MIM 136535) homology (FH) domains, such as FHOD3, play a role in regulation of the actin cytoskeleton (Kanaya et al., 2005 [PubMed 15966898]).[supplied by OMIM, Apr 2010]

LOC105372585 Gene

formin-like protein 5

LOC105376746 Gene

formin-like protein 5

INF2 Gene

inverted formin, FH2 and WH2 domain containing

This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]

LOC105376333 Gene

formin-like protein 6

LOC100418721 Gene

formin 2 pseudogene

FNBP1L Gene

formin binding protein 1-like

The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

LOC105373386 Gene

formin-like protein 5

FMN1 Gene

formin 1

FMN2 Gene

formin 2

This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. Mutations in this gene have been associated with mental retardation autosomal recessive 47 (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

FNBP1P1 Gene

formin binding protein 1 pseudogene 1

FNBP1P2 Gene

formin binding protein 1 pseudogene 2

LOC105372389 Gene

formin-like protein 10

FMNL2 Gene

formin-like 2

This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]

FMNL3 Gene

formin-like 3

The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

FMNL1 Gene

formin-like 1

This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]

FNBP1 Gene

formin binding protein 1

The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008]

FNBP4 Gene

formin binding protein 4

LOC101928021 Gene

formin-like protein 18

RUNX1T1 Gene

runt-related transcription factor 1; translocated to, 1 (cyclin D-related)

This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

BCL2A1 Gene

BCL2-related protein A1

This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SEZ6L Gene

seizure related 6 homolog (mouse)-like

LOC100421559 Gene

adaptor-related protein complex 5, mu 1 subunit pseudogene

LOC643733 Gene

caspase 4, apoptosis-related cysteine peptidase pseudogene

AASTH40 Gene

Allergic/atopic asthma related QTL 40

LOC100271907 Gene

myotubularin related protein 7 pseudogene

CASP3P1 Gene

caspase 3, apoptosis-related cysteine peptidase pseudogene 1

AASTH45 Gene

Allergic/atopic asthma related QTL 45

LOC105369146 Gene

cadherin-related family member 4-like

LOC100133102 Gene

ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) pseudogene

BOK Gene

BCL2-related ovarian killer

The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]

LOC100418603 Gene

MHC class I polypeptide-related sequence B pseudogene

LOC100418606 Gene

MHC class I polypeptide-related sequence B pseudogene

KCNA7 Gene

potassium channel, voltage gated shaker related subfamily A, member 7

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]

KCNA4 Gene

potassium channel, voltage gated shaker related subfamily A, member 4

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]

KCNA5 Gene

potassium channel, voltage gated shaker related subfamily A, member 5

Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]

KCNA2 Gene

potassium channel, voltage gated shaker related subfamily A, member 2

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008]

KCNA3 Gene

potassium channel, voltage gated shaker related subfamily A, member 3

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]

KCNA1 Gene

potassium channel, voltage gated shaker related subfamily A, member 1

This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]

MRGPRD Gene

MAS-related GPR, member D

OSR1 Gene

odd-skipped related transciption factor 1

MRGPRF Gene

MAS-related GPR, member F

MRGPRG Gene

MAS-related GPR, member G

SMARCE1P5 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 5

GLIPR2 Gene

GLI pathogenesis-related 2

GLIPR1 Gene

GLI pathogenesis-related 1

This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

NAT9 Gene

N-acetyltransferase 9 (GCN5-related, putative)

NAT8 Gene

N-acetyltransferase 8 (GCN5-related, putative)

This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008]

NAT6 Gene

N-acetyltransferase 6 (GCN5-related)

This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]

ACTR3B Gene

ARP3 actin-related protein 3 homolog B (yeast)

This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

ESRRAP2 Gene

estrogen-related receptor alpha pseudogene 2

ESRRAP1 Gene

estrogen-related receptor alpha pseudogene 1

MLRL Gene

Myeloid leukemia-related gene (myeloid tumor suppressor)

LOC284048 Gene

FLJ11800 related gene

CDH23 Gene

cadherin-related 23

This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]

SMARCC2 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SMARCC1 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]

AP1S1 Gene

adaptor-related protein complex 1, sigma 1 subunit

The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]

GCRG224 Gene

gastric cancer-related gene GCRG224

PIH2 Gene

pregnancy-induced hypertension syndrome-related protein

DMRT1 Gene

doublesex and mab-3 related transcription factor 1

This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]

DMRT2 Gene

doublesex and mab-3 related transcription factor 2

The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]

DMRT3 Gene

doublesex and mab-3 related transcription factor 3

LOC646120 Gene

Spi-C transcription factor (Spi-1/PU.1 related) pseudogene

TNKS2 Gene

tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2

TSRM Gene

zinc finger domain-related protein TSRM

PVRL1 Gene

poliovirus receptor-related 1 (herpesvirus entry mediator C)

This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009]

PVRL3 Gene

poliovirus receptor-related 3

This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

AP5B1 Gene

adaptor-related protein complex 5, beta 1 subunit

LOC554223 Gene

histocompatibility antigen-related

KCNA10 Gene

potassium channel, voltage gated shaker related subfamily A, member 10

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008]

LOC100422623 Gene

carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) pseudogene

AASTH18 Gene

Allergic/atopic asthma related QTL 18

AASTH13 Gene

Allergic/atopic asthma related QTL 13

AASTH15 Gene

Allergic/atopic asthma related QTL 15

AASTH14 Gene

Allergic/atopic asthma related QTL 14

AASTH16 Gene

Allergic/atopic asthma related QTL 16

LOC284441 Gene

actin-related protein 2 pseudogene

LRP2 Gene

low density lipoprotein receptor-related protein 2

The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]

LRP3 Gene

low density lipoprotein receptor-related protein 3

LRP1 Gene

low density lipoprotein receptor-related protein 1

The protein encoded by this gene is an endocytic receptor involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the A2M-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer patients. [provided by RefSeq, Jan 2010]

LRP6 Gene

low density lipoprotein receptor-related protein 6

This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]

LRP4 Gene

low density lipoprotein receptor-related protein 4

This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]

LRP5 Gene

low density lipoprotein receptor-related protein 5

This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

LRP8 Gene

low density lipoprotein receptor-related protein 8, apolipoprotein e receptor

This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]

SVOP Gene

SV2 related protein homolog (rat)

AP5Z1 Gene

adaptor-related protein complex 5, zeta 1 subunit

This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]

ARFRP1 Gene

ADP-ribosylation factor related protein 1

The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]

SPRED1 Gene

sprouty-related, EVH1 domain containing 1

The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]

SPRED2 Gene

sprouty-related, EVH1 domain containing 2

SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]

SPRED3 Gene

sprouty-related, EVH1 domain containing 3

This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

KLK2 Gene

kallikrein-related peptidase 2

This gene encodes a member of the grandular kallikrein protein family. Kallikreins are a subgroup of serine proteases that are clustered on chromosome 19. Members of this family are involved in a diverse array of biological functions. The protein encoded by this gene is a highly active trypsin-like serine protease that selectively cleaves at arginine residues. This protein is primarily expressed in prostatic tissue and is responsible for cleaving pro-prostate-specific antigen into its enzymatically active form. This gene is highly expressed in prostate tumor cells and may be a prognostic maker for prostate cancer risk. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Jan 2012]

KLK3 Gene

kallikrein-related peptidase 3

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its protein product is a protease present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. Serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

KLK4 Gene

kallikrein-related peptidase 4

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]

KLK5 Gene

kallikrein-related peptidase 5

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its expression is up-regulated by estrogens and progestins. The encoded protein is secreted and may be involved in desquamation in the epidermis. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

KLK6 Gene

kallikrein-related peptidase 6

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. The encoded enzyme is regulated by steroid hormones. In tissue culture, the enzyme has been found to generate amyloidogenic fragments from the amyloid precursor protein, suggesting a potential for involvement in Alzheimer's disease. Multiple alternatively spliced transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

KLK7 Gene

kallikrein-related peptidase 7

This gene encodes a member of the kallikrein subfamily of serine proteases. These enzymes have diverse physiological functions and many kallikrein genes are biomarkers for cancer. The encoded protein has chymotrypsin-like activity and plays a role in the proteolysis of intercellular cohesive structures that precedes desquamation, the shedding of the outermost layer of the epidermis. The encoded protein may play a role in cancer invasion and metastasis, and increased expression of this gene is associated with unfavorable prognosis and progression of several types of cancer. Polymorphisms in this gene may play a role in the development of atopic dermatitis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is one of fifteen kallikrein subfamily members located in a gene cluster on chromosome 19. [provided by RefSeq, May 2011]

KLK8 Gene

kallikrein-related peptidase 8

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in tandem in a gene cluster on chromosome 19. The encoded protein may be involved in proteolytic cascade in the skin and may serve as a biomarker for ovarian cancer. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

KLK9 Gene

kallikrein-related peptidase 9

The protein encoded by this gene is a kallikrein-related serine protease. This gene is activated by steroid hormones in a human breast cancer cell line, making it a good marker for cancer detection. The encoded protein is found primarily in the cytoplasm.[provided by RefSeq, Oct 2010]

SFRP2 Gene

secreted frizzled-related protein 2

This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008]

SFRP1 Gene

secreted frizzled-related protein 1

This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009]

SFRP4 Gene

secreted frizzled-related protein 4

Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008]

SFRP5 Gene

secreted frizzled-related protein 5

Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. [provided by RefSeq, Jul 2008]

KLK12 Gene

kallikrein-related peptidase 12

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

KLK13 Gene

kallikrein-related peptidase 13

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Expression of this gene is regulated by steroid hormones and may be useful as a marker for breast cancer. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]

KLK10 Gene

kallikrein-related peptidase 10

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

KLK11 Gene

kallikrein-related peptidase 11

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in multiple transcript variants encoding distinct isoforms which are differentially expressed.[provided by RefSeq, Nov 2009]

KLK14 Gene

kallikrein-related peptidase 14

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. An additional transcript variant has been described but its full length nature has not been determined. [provided by RefSeq, Jul 2008]

KLK15 Gene

kallikrein-related peptidase 15

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In prostate cancer, this gene has increased expression, which indicates its possible use as a diagnostic or prognostic marker for prostate cancer. The gene contains multiple polyadenylation sites and alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

RRAGAP1 Gene

Ras-related GTP binding A pseudogene 1

IFRD1 Gene

interferon-related developmental regulator 1

This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

AP2B1 Gene

adaptor-related protein complex 2, beta 1 subunit

The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PCDH15 Gene

protocadherin-related 15

This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]

LOC102723689 Gene

actin-related protein 3B-like

SORCS1 Gene

sortilin-related VPS10 domain containing receptor 1

This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

SORCS2 Gene

sortilin-related VPS10 domain containing receptor 2

This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]

SORCS3 Gene

sortilin-related VPS10 domain containing receptor 3

This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]

RAC1P5 Gene

ras-related C3 botulinum toxin substrate 1 pseudogene 5

This locus encodes one of the pseudogenes of the functional ras-related C3 botulinum toxin substrate 1 gene (RAC1, GeneID:5879) located on chr 7. It is intronless, shares overall 93% sequence identity with the RAC1 gene, and has enough differences in the coding region so as not to be able to code for a functional protein. There is no evidence of transcription at this pseudogene locus on chr 4. [provided by RefSeq, Jul 2008]

RAC1P4 Gene

ras-related C3 botulinum toxin substrate 1 pseudogene 4

RAC1P1 Gene

ras-related C3 botulinum toxin substrate 1 pseudogene 1

RAC1P3 Gene

ras-related C3 botulinum toxin substrate 1 pseudogene 3

RAC1P2 Gene

ras-related C3 botulinum toxin substrate 1 pseudogene 2

LOC101059986 Gene

cancer-related nucleoside-triphosphatase pseudogene

LOC100420510 Gene

myotubularin related protein 12 pseudogene

AASTH38 Gene

Allergic/atopic asthma related QTL 38

AASTH37 Gene

Allergic/atopic asthma related QTL 37

FERP1 Gene

fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) pseudogene 1

IRGQ Gene

immunity-related GTPase family, Q

IRGC Gene

immunity-related GTPase family, cinema

IRGM Gene

immunity-related GTPase family, M

This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis.[provided by RefSeq, Oct 2010]

NREP Gene

neuronal regeneration related protein

BECN1 Gene

beclin 1, autophagy related

Beclin-1 participates in the regulation of autophagy and has an important role in development, tumorigenesis, and neurodegeneration (Zhong et al., 2009 [PubMed 19270693]).[supplied by OMIM, Jul 2010]

ARPC5L Gene

actin related protein 2/3 complex, subunit 5-like

LOC390098 Gene

MAS-related GPR, member X1 pseudogene

LOC390099 Gene

MAS-related GPR, member X3 pseudogene

LOC100130345 Gene

cadherin-related family member 3-like

EDF1 Gene

endothelial differentiation-related factor 1

This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

NRK Gene

Nik related kinase

The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]

LOC653653 Gene

adaptor-related protein complex 1, sigma 2 subunit pseudogene

CDHR1 Gene

cadherin-related family member 1

This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]

CDHR2 Gene

cadherin-related family member 2

This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]

CDHR3 Gene

cadherin-related family member 3

CDHR4 Gene

cadherin-related family member 4

CDHR5 Gene

cadherin-related family member 5

This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]

MYPOP Gene

Myb-related transcription factor, partner of profilin

LOC643454 Gene

adaptor-related protein complex 3, sigma 1 subunit pseudogene

AP3M1 Gene

adaptor-related protein complex 3, mu 1 subunit

The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

AP3M2 Gene

adaptor-related protein complex 3, mu 2 subunit

This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]

DPRX Gene

divergent-paired related homeobox

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DPRX homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008]

LOC100289381 Gene

adaptor-related protein complex 3, sigma 1 subunit pseudogene

LOC101060399 Gene

cerebellar degeneration-related protein 2

GPDS1 Gene

glaucoma-related pigment dispersion syndrome 1

CST8 Gene

cystatin 8 (cystatin-related epididymal specific)

The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

SRCAP Gene

Snf2-related CREBBP activator protein

This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]

LOC260421 Gene

actin related protein 2/3 complex subunit 1A pseudogene

LOC260422 Gene

actin related protein 2/3 complex subunit 1A pseudogene

AP4B1 Gene

adaptor-related protein complex 4, beta 1 subunit

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

KCNA6 Gene

potassium channel, voltage gated shaker related subfamily A, member 6

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008]

LRPAP1 Gene

low density lipoprotein receptor-related protein associated protein 1

This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

MR1 Gene

major histocompatibility complex, class I-related

MRGPRE Gene

MAS-related GPR, member E

AP2A1 Gene

adaptor-related protein complex 2, alpha 1 subunit

This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]

AP2A2 Gene

adaptor-related protein complex 2, alpha 2 subunit

CDR2L Gene

cerebellar degeneration-related protein 2-like

SEN2 Gene

senescence (cellular)-related 2

SEN3 Gene

senescence (cellular)-related 3

SEN6 Gene

senescence (cellular)-related 6

LOC246724 Gene

DNA directed RNA polymerase II polypeptide J-related gene

LOC246725 Gene

DNA directed RNA polymerase II polypeptide J-related gene

OCR1 Gene

ovarian cancer-related protein 1

SCAF11 Gene

SR-related CTD-associated factor 11

AASTH48 Gene

Allergic/atopic asthma related QTL 48

AASTH49 Gene

Allergic/atopic asthma related QTL 49

ASRT8 Gene

Asthma-related traits, susceptibility to, 8

LOC402641 Gene

v-ral simian leukemia viral oncogene homolog A (ras related) pseudogene

FRZB Gene

frizzled-related protein

The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]

LOC100130035 Gene

biogenesis of lysosome-related organelles complex 1 subunit 6-like

LOC100131348 Gene

adaptor-related protein complex 2, beta 1 subunit pseudogene

LOC100422044 Gene

actin related protein 2/3 complex, subunit 1A, 41kDa pseudogene

SPHAR Gene

S-phase response (cyclin related)

NEK6 Gene

NIMA-related kinase 6

The protein encoded by this gene is a kinase required for progression through the metaphase portion of mitosis. Inhibition of the encoded protein can lead to apoptosis. This protein also can enhance tumorigenesis by suppressing tumor cell senescence. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

NEK7 Gene

NIMA-related kinase 7

NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM, Jul 2002]

NEK4 Gene

NIMA-related kinase 4

NEK5 Gene

NIMA-related kinase 5

NEK2 Gene

NIMA-related kinase 2

This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011]

NEK3 Gene

NIMA-related kinase 3

This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

NEK8 Gene

NIMA-related kinase 8

This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008]

NEK9 Gene

NIMA-related kinase 9

LRP5L Gene

low density lipoprotein receptor-related protein 5-like

KCNC1 Gene

potassium channel, voltage gated Shaw related subfamily C, member 1

This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]

KCNC2 Gene

potassium channel, voltage gated Shaw related subfamily C, member 2

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

KCNC3 Gene

potassium channel, voltage gated Shaw related subfamily C, member 3

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]

SMARCE1 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]

CEACAM19 Gene

carcinoembryonic antigen-related cell adhesion molecule 19

CEACAM18 Gene

carcinoembryonic antigen-related cell adhesion molecule 18

CEACAM16 Gene

carcinoembryonic antigen-related cell adhesion molecule 16

The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]

RORC Gene

RAR-related orphan receptor C

The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RORB Gene

RAR-related orphan receptor B

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. [provided by RefSeq, Feb 2014]

RORA Gene

RAR-related orphan receptor A

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]

STRADBP1 Gene

STE20-related kinase adaptor beta pseudogene 1

HSPB9 Gene

heat shock protein, alpha-crystallin-related, B9

ACTR10 Gene

actin-related protein 10 homolog (S. cerevisiae)

ACTR1B Gene

ARP1 actin-related protein 1 homolog B, centractin beta (yeast)

This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008]

ACTR1A Gene

ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)

This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008]

AGRP Gene

agouti related neuropeptide

This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 2009]

ARPC4 Gene

actin related protein 2/3 complex, subunit 4, 20kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010]

PRRX1 Gene

paired related homeobox 1

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]

PRRX2 Gene

paired related homeobox 2

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in expression of this gene during fetal but not adult wound healing suggest a possible role in mechanisms that control mammalian dermal regeneration and prevent formation of scar response to wounding. The expression patterns provide evidence consistent with a role in fetal skin development and a possible role in cellular proliferation. [provided by RefSeq, Jul 2008]

ARPC3P4 Gene

actin related protein 2/3 complex, subunit 3 pseudogene 4

XKRYP6 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 6

XKRYP4 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 4

XKRYP5 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 5

XKRYP2 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 2

XKRYP3 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 3

XKRYP1 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 1

ACTR3C Gene

ARP3 actin-related protein 3 homolog C (yeast)

EPDR1 Gene

ependymin related 1

The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011]

AP1S2 Gene

adaptor-related protein complex 1, sigma 2 subunit

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

AP1S3 Gene

adaptor-related protein complex 1, sigma 3 subunit

This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

STARD10 Gene

StAR-related lipid transfer (START) domain containing 10

STARD13 Gene

StAR-related lipid transfer (START) domain containing 13

This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

STARD9 Gene

StAR-related lipid transfer (START) domain containing 9

STARD4 Gene

StAR-related lipid transfer (START) domain containing 4

Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]

STARD5 Gene

StAR-related lipid transfer (START) domain containing 5

Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD5 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]

BECN1P2 Gene

beclin 1, autophagy related, pseudogene 2

AP4E1 Gene

adaptor-related protein complex 4, epsilon 1 subunit

This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

SEZ6L2 Gene

seizure related 6 homolog (mouse)-like 2

This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

LOC645415 Gene

MAS-related GPR, member X1 pseudogene

TMX4 Gene

thioredoxin-related transmembrane protein 4

TMX1 Gene

thioredoxin-related transmembrane protein 1

TXNDC1 is a thioredoxin (TXN; see MIM 187700)-related protein with disulfide reductase activity (Matsuo et al., 2001 [PubMed 11152479]).[supplied by OMIM, Mar 2008]

TMX3 Gene

thioredoxin-related transmembrane protein 3

TMX2 Gene

thioredoxin-related transmembrane protein 2

AASTH42 Gene

Allergic/atopic asthma related QTL 42

AASTH43 Gene

Allergic/atopic asthma related QTL 43

AASTH47 Gene

Allergic/atopic asthma related QTL 47

AASTH44 Gene

Allergic/atopic asthma related QTL 44

NAT16 Gene

N-acetyltransferase 16 (GCN5-related, putative)

NAT14 Gene

N-acetyltransferase 14 (GCN5-related, putative)

NAT10 Gene

N-acetyltransferase 10 (GCN5-related)

FER Gene

fer (fps/fes related) tyrosine kinase

The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Apr 2015]

GRAP2 Gene

GRB2-related adaptor protein 2

This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

GRAPL Gene

GRB2-related adaptor protein-like

KCNH5 Gene

potassium channel, voltage gated eag related subfamily H, member 5

This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

KCNH4 Gene

potassium channel, voltage gated eag related subfamily H, member 4

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]

KCNH7 Gene

potassium channel, voltage gated eag related subfamily H, member 7

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]

KCNH6 Gene

potassium channel, voltage gated eag related subfamily H, member 6

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

KCNH1 Gene

potassium channel, voltage gated eag related subfamily H, member 1

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

KCNH3 Gene

potassium channel, voltage gated eag related subfamily H, member 3

KCNH2 Gene

potassium channel, voltage gated eag related subfamily H, member 2

This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

KCNH8 Gene

potassium channel, voltage gated eag related subfamily H, member 8

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008]

SAR1A Gene

secretion associated, Ras related GTPase 1A

SAR1B Gene

secretion associated, Ras related GTPase 1B

The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]

SEN6A Gene

senescence (cellular)-related 6A

SEN6B Gene

senescence (cellular)-related 6B

ASOBS Gene

Asthma and obesity susceptibility, chromosome 16p11 inversion related

RRAS2 Gene

related RAS viral (r-ras) oncogene homolog 2

This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

AP4M1 Gene

adaptor-related protein complex 4, mu 1 subunit

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]

SMG1 Gene

SMG1 phosphatidylinositol 3-kinase-related kinase

This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]

RALA Gene

v-ral simian leukemia viral oncogene homolog A (ras related)

The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [provided by RefSeq, Jul 2008]

LOC100418597 Gene

MHC class I polypeptide-related sequence B pseudogene

STRADB Gene

STE20-related kinase adaptor beta

This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

LOC317727 Gene

ataxin 2 related protein pseudogene

CEACAM20 Gene

carcinoembryonic antigen-related cell adhesion molecule 20

CEACAM21 Gene

carcinoembryonic antigen-related cell adhesion molecule 21

LOC100288663 Gene

actin related protein 2/3 complex, subunit 1A, 41kDa pseudogene

NFRKB Gene

nuclear factor related to kappaB binding protein

SSAV1 Gene

simian sarcoma-associated virus 1/gibbon ape leukemia virus-related endogenous retroviral element 1

TDRP Gene

testis development related protein

MRGPRX4 Gene

MAS-related GPR, member X4

MRGPRX1 Gene

MAS-related GPR, member X1

MRGPRX3 Gene

MAS-related GPR, member X3

This gene encodes a member of the mas-related/sensory neuron specific subfamily of G protein coupled receptors. The encoded protein may be involved in sensory neuron regulation and in the modulation of pain. [provided by RefSeq, Oct 2009]

MRGPRX2 Gene

MAS-related GPR, member X2

AP3S2 Gene

adaptor-related protein complex 3, sigma 2 subunit

AP3S1 Gene

adaptor-related protein complex 3, sigma 1 subunit

AASTH9 Gene

Allergic/atopic asthma related QTL 9

AASTH8 Gene

Allergic/atopic asthma related QTL 8

AASTH7 Gene

Allergic/atopic asthma related QTL 7

AASTH6 Gene

Allergic/atopic asthma related QTL 6

AASTH1 Gene

Allergic/atopic asthma related QTL 1

AASTH3 Gene

Allergic/atopic asthma related QTL 3

AASTH2 Gene

Allergic/atopic asthma related QTL 2

SMARCB1 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MICG Gene

MHC class I polypeptide-related sequence G (pseudogene)

MICF Gene

MHC class I polypeptide-related sequence F (pseudogene)

MICE Gene

MHC class I polypeptide-related sequence E (pseudogene)

MICD Gene

MHC class I polypeptide-related sequence D (pseudogene)

MICC Gene

MHC class I polypeptide-related sequence C (pseudogene)

MICB Gene

MHC class I polypeptide-related sequence B

This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

MICA Gene

MHC class I polypeptide-related sequence A

This gene encodes the highly polymorphic major histocompatability complex class I chain-related protein A. The protein product is expressed on the cell surface, although unlike canonical class I molecules it does not seem to associate with beta-2-microglobulin. It is a ligand for the NKG2-D type II integral membrane protein receptor. The protein functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. Variations in this gene have been associated with susceptibility to psoriasis 1 and psoriatic arthritis, and the shedding of MICA-related antibodies and ligands is involved in the progression from monoclonal gammopathy of undetermined significance to multiple myeloma. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2014]

FLT4 Gene

fms-related tyrosine kinase 4

This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]

FLT1 Gene

fms-related tyrosine kinase 1

This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]

LOC100421614 Gene

ARP2 actin-related protein 2 homolog (yeast) pseudogene

GRIFIN Gene

galectin-related inter-fiber protein

DCHS1 Gene

dachsous cadherin-related 1

This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]

DCHS2 Gene

dachsous cadherin-related 2

AASTH29 Gene

Allergic/Atopic asthma related QTL 29

AASTH24 Gene

Allergic/atopic asthma related QTL 24

AASTH26 Gene

Allergic/atopic asthma related QTL 25

AASTH27 Gene

Allergic/atopic asthma related QTL 27

AASTH20 Gene

Allergic/atopic asthma related QTL 20

AASTH21 Gene

Allergic/atopic asthma related QTL 21

AASTH22 Gene

Allergic/atopic asthma related QTL 22

PPRC1 Gene

peroxisome proliferator-activated receptor gamma, coactivator-related 1

The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

LOC645965 Gene

adipose differentiation-related protein pseudogene

LOC100289004 Gene

actin-related protein 3B-like

CDR3 Gene

Cerebellar degeneration-related autoantigen-3

CDR2 Gene

cerebellar degeneration-related protein 2, 62kDa

CDR1 Gene

cerebellar degeneration-related protein 1, 34kDa

Autoantibodies directed against the protein encoded by this intronless gene have been found in some patients with paraneoplastic cerebellar degeneration. The encoded protein contains several hexapeptide repeats. [provided by RefSeq, Jan 2010]

LOC260404 Gene

DKFZp434F1819 related gene

LOC100131011 Gene

myotubularin related protein 14 pseudogene

ATG4C Gene

autophagy related 4C, cysteine peptidase

Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008]

ATG4B Gene

autophagy related 4B, cysteine peptidase

Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

ATG4A Gene

autophagy related 4A, cysteine peptidase

Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

ATG4D Gene

autophagy related 4D, cysteine peptidase

Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RAC2 Gene

ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)

This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]

RAC3 Gene

ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. [provided by RefSeq, Jul 2008]

RAC1 Gene

ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

ATG101 Gene

autophagy related 101

SMARCE1P3 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 3

SMARCE1P2 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 2

SMARCE1P6 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 6

SMARCE1P4 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 4

ATG16L1 Gene

autophagy related 16-like 1 (S. cerevisiae)

The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

ATG16L2 Gene

autophagy related 16-like 2 (S. cerevisiae)

ACTR8 Gene

ARP8 actin-related protein 8 homolog (yeast)

ACTR6 Gene

ARP6 actin-related protein 6 homolog (yeast)

ACTR5 Gene

ARP5 actin-related protein 5 homolog (yeast)

ACTR3 Gene

ARP3 actin-related protein 3 homolog (yeast)

The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]

ACTR2 Gene

ARP2 actin-related protein 2 homolog (yeast)

The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC100996886 Gene

complement factor H-related protein 3-like

LOC101927401 Gene

cadherin-related family member 5-like

CRP Gene

C-reactive protein, pentraxin-related

The protein encoded by this gene belongs to the pentaxin family. It is involved in several host defense related functions based on its ability to recognize foreign pathogens and damaged cells of the host and to initiate their elimination by interacting with humoral and cellular effector systems in the blood. Consequently, the level of this protein in plasma increases greatly during acute phase response to tissue injury, infection, or other inflammatory stimuli. [provided by RefSeq, Sep 2009]

LOC100420123 Gene

MAS-related GPR, member X2 pseudogene

LOC100420121 Gene

MAS-related GPR, member X3 pseudogene

STRADA Gene

STE20-related kinase adaptor alpha

The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009]

LPPR3 Gene

lipid phosphate phosphatase-related protein type 3

The proteins in the lipid phosphate phosphatase (LPP) family, including PRG2, are integral membrane proteins that modulate bioactive lipid phosphates including phosphatidate, lysophosphatidate, and sphingosine-1-phosphate in the context of cell migration, neurite retraction, and mitogenesis (Brauer et al., 2003 [PubMed 12730698]).[supplied by OMIM, Mar 2008]

DRP2 Gene

dystrophin related protein 2

Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

LOC100421161 Gene

ependymin related 1 pseudogene

LOC347715 Gene

FLJ11800 related gene

AP2S1 Gene

adaptor-related protein complex 2, sigma 1 subunit

One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ARPIN Gene

actin-related protein 2/3 complex inhibitor

SCAF4 Gene

SR-related CTD-associated factor 4

This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

SCAF1 Gene

SR-related CTD-associated factor 1

SCAF8 Gene

SR-related CTD-associated factor 8

TMX2P1 Gene

thioredoxin-related transmembrane protein 2 pseudogene 1

VRK1 Gene

vaccinia related kinase 1

This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]

VRK3 Gene

vaccinia related kinase 3

This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]

VRK2 Gene

vaccinia related kinase 2

This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014]

AASTH41 Gene

Allergic/Atopic asthma related QTL 41

AASTH46 Gene

Allergic/atopic asthma related QTL 46

LOC645319 Gene

MAS-related GPR, member X3 pseudogene

LOC100421664 Gene

Spi-C transcription factor (Spi-1/PU.1 related) pseudogene

ATG3P1 Gene

autophagy related 3 pseudogene 1

ASRT6 Gene

Asthma-related traits, susceptibility to, 6

LOC642550 Gene

v-ral simian leukemia viral oncogene homolog A (ras related) pseudogene

ASRT4 Gene

Asthma-related traits, susceptibility to, 4

ARHI1 Gene

Age-related hearing impairment 1

ARHI2 Gene

Age-related hearing impairment 2

AASTH25 Gene

Allergic/atopic asthma related QTL 25

LOC645297 Gene

MAS-related GPR, member X2 pseudogene

XKR9 Gene

XK, Kell blood group complex subunit-related family, member 9

XKR8 Gene

XK, Kell blood group complex subunit-related family, member 8

ESRRA Gene

estrogen-related receptor alpha

The protein encoded by this gene is a nuclear receptor that is closely related to the estrogen receptor. This protein acts as a site-specific transcription regulator and has been also shown to interact with estrogen and the transcripton factor TFIIB by direct protein-protein contact. The binding and regulatory activities of this protein have been demonstrated in the regulation of a variety of genes including lactoferrin, osteopontin, medium-chain acyl coenzyme A dehydrogenase (MCAD) and thyroid hormone receptor genes. A processed pseudogene of ESRRA is located on chromosome 13q12.1. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

ESRRB Gene

estrogen-related receptor beta

This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]

AP3D1 Gene

adaptor-related protein complex 3, delta 1 subunit

The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

TYRP1 Gene

tyrosinase-related protein 1

This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]

AASTH55 Gene

Allergic/atopic asthma related QTL 5

AASTH54 Gene

Allergic/atopic asthma related QTL 54

AASTH56 Gene

Allergic/Atopic asthma related QTL 56

AASTH51 Gene

Allergic/atopic asthma related QTL 51

AASTH53 Gene

Allergic/atopic asthma related QTL 53

AASTH52 Gene

Allergic/atopic asthma related QTL 52

AP1M2 Gene

adaptor-related protein complex 1, mu 2 subunit

This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

AP1M1 Gene

adaptor-related protein complex 1, mu 1 subunit

The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

FN3KRP Gene

fructosamine 3 kinase related protein

A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

FREM3 Gene

FRAS1 related extracellular matrix 3

FREM2 Gene

FRAS1 related extracellular matrix protein 2

This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]

FREM1 Gene

FRAS1 related extracellular matrix 1

This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]

ATG10 Gene

autophagy related 10

Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008]

ATG12 Gene

autophagy related 12

Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]

ATG13 Gene

autophagy related 13

ATG14 Gene

autophagy related 14

LOC441592 Gene

MAS-related GPR, member X1 pseudogene

OSR2 Gene

odd-skipped related transciption factor 2

OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM, Mar 2008]

NRAP Gene

nebulin-related anchoring protein

RRAD Gene

Ras-related associated with diabetes

RRAS Gene

related RAS viral (r-ras) oncogene homolog

BCPR Gene

Breast cancer-related regulator of TP53

CASP6 Gene

caspase 6, apoptosis-related cysteine peptidase

This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in two transcript variants that encode different isoforms. [provided by RefSeq, Jul 2008]

CASP7 Gene

caspase 7, apoptosis-related cysteine peptidase

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

CASP4 Gene

caspase 4, apoptosis-related cysteine peptidase

This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

CASP5 Gene

caspase 5, apoptosis-related cysteine peptidase

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]

CASP2 Gene

caspase 2, apoptosis-related cysteine peptidase

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer's disease, Huntington's disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

CASP3 Gene

caspase 3, apoptosis-related cysteine peptidase

This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 6, 7 and 9, and the protein itself is processed by caspases 8, 9 and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]

CASP1 Gene

caspase 1, apoptosis-related cysteine peptidase

This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]

CASP8 Gene

caspase 8, apoptosis-related cysteine peptidase

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008]

CASP9 Gene

caspase 9, apoptosis-related cysteine peptidase

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

KCNB2 Gene

potassium channel, voltage gated Shab related subfamily B, member 2

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]

KCNB1 Gene

potassium channel, voltage gated Shab related subfamily B, member 1

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]

LOC100418600 Gene

MHC class I polypeptide-related sequence B pseudogene

LOC100418601 Gene

MHC class I polypeptide-related sequence B pseudogene

LOC100418602 Gene

MHC class I polypeptide-related sequence B pseudogene

LOC100418604 Gene

MHC class I polypeptide-related sequence B pseudogene

LOC100418605 Gene

MHC class I polypeptide-related sequence B pseudogene

LOC100418607 Gene

MHC class I polypeptide-related sequence B pseudogene

SMARCD3 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

SMARCD2 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SMARCD1 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

TNKS Gene

tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase

URM1 Gene

ubiquitin related modifier 1

AASTH4 Gene

Allergic/atopic asthma related QTL 4

AP4S1 Gene

adaptor-related protein complex 4, sigma 1 subunit

This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]

PVRL2 Gene

poliovirus receptor-related 2 (herpesvirus entry mediator B)

This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

PVRL4 Gene

poliovirus receptor-related 4

This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011]

ATG9A Gene

autophagy related 9A

ATG9B Gene

autophagy related 9B

This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]

LOC449519 Gene

Mas-related gene LOC449519

ARPC1B Gene

actin related protein 2/3 complex, subunit 1B, 41kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]

ARPC1A Gene

actin related protein 2/3 complex, subunit 1A, 41kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

NEK10 Gene

NIMA-related kinase 10

NEK11 Gene

NIMA-related kinase 11

This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]

SCZD11 Gene

Schizophrenia susceptibility locus, chromosome 10q-related

SEZ6 Gene

seizure related 6 homolog (mouse)

LOC100288160 Gene

esophagus cancer-related gene-2 interaction susceptibility protein

LOC101929087 Gene

small ubiquitin-related modifier 2-like

SMARCAL1 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]

AASTH11 Gene

Allergic/atopic asthma related QTL 11

AASTH12 Gene

Allergic/atopic asthma related QTL 12

AASTH17 Gene

Allergic/atopic asthma related QTL 17

XKRY2 Gene

XK, Kell blood group complex subunit-related, Y-linked 2

This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

NEK1 Gene

NIMA-related kinase 1

The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

AP5S1 Gene

adaptor-related protein complex 5, sigma 1 subunit

ESRRG Gene

estrogen-related receptor gamma

This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]

LOC100133211 Gene

related RAS viral (r-ras) oncogene homolog 2 pseudogene

NEK4P1 Gene

NIMA-related kinase 4 pseudogene 1

AASTH19 Gene

Allergic/atopic asthma related QTL 19

AASTH10 Gene

Allergic/atopic asthma related QTL 10

SRMS Gene

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites

THRIL Gene

TNF and HNRNPL related immunoregulatory long non-coding RNA

SMARCAD1 Gene

SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1

This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

LRLE1 Gene

liver-related low express protein 1

FAM58BP Gene

cyclin-related protein FAM58B

AP1B1P1 Gene

adaptor-related protein complex 1, beta 1 subunit pseudogene 1

AP1B1P2 Gene

adaptor-related protein complex 1, beta 1 subunit pseudogene 2

MR1P1 Gene

major histocompatibility complex, class I-related pseudogene

FLT3 Gene

fms-related tyrosine kinase 3

This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]

CFHR2 Gene

complement factor H-related 2

CFHR3 Gene

complement factor H-related 3

The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

CFHR1 Gene

complement factor H-related 1

This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]

CFHR4 Gene

complement factor H-related 4

This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]

CFHR5 Gene

complement factor H-related 5

This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]

SMOC2 Gene

SPARC related modular calcium binding 2

This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

SMOC1 Gene

SPARC related modular calcium binding 1

This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

HCRP1 Gene

hepatocellular carcinoma-related HCRP1

ZER1 Gene

zyg-11 related, cell cycle regulator

This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012]

LOC100128007 Gene

Spi-C transcription factor (Spi-1/PU.1 related) pseudogene

ATG2A Gene

autophagy related 2A

ATG2B Gene

autophagy related 2B

LPPR5 Gene

lipid phosphate phosphatase-related protein type 5

The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

LPPR4 Gene

lipid phosphate phosphatase-related protein type 4

The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

LPPR2 Gene

lipid phosphate phosphatase-related protein type 2

LPPR1 Gene

lipid phosphate phosphatase-related protein type 1

This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

ZRF1PS Gene

zuotin related factor 1 pseudogene

ATG12P1 Gene

autophagy related 12 pseudogene 1

ATG12P2 Gene

autophagy related 12 pseudogene 2

LOC100384885 Gene

related RAS viral (r-ras) oncogene homolog 2 pseudogene

ACTRT1 Gene

actin-related protein T1

This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010]

ACTRT2 Gene

actin-related protein T2

The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008]

ACTRT3 Gene

actin-related protein T3

PVRIG Gene

poliovirus receptor related immunoglobulin domain containing

PTER Gene

phosphotriesterase related

AP1B1 Gene

adaptor-related protein complex 1, beta 1 subunit

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

NEK4P2 Gene

NIMA-related kinase 4 pseudogene 2

NEK4P3 Gene

NIMA-related kinase 4 pseudogene 3

ASRT3 Gene

Asthma-related traits, susceptibility to, 3

SMARCE1P1 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 1

RRAGD Gene

Ras-related GTP binding D

RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]

RRAGA Gene

Ras-related GTP binding A

RRAGC Gene

Ras-related GTP binding C

This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

RRAGB Gene

Ras-related GTP binding B

Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six conserved motifs involved in GTP/GDP binding, three of which are phosphate-/magnesium-binding sites (PM1-PM3) and three of which are guanine nucleotide-binding sites (G1-G3). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

LOC100652908 Gene

GRB2-related adaptor protein pseudogene

KCNC4 Gene

potassium channel, voltage gated Shaw related subfamily C, member 4

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

CEACAMP10 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 10

CEACAMP11 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 11

CASP1P1 Gene

caspase 1, apoptosis-related cysteine peptidase pseudogene 1

CASP1P3 Gene

caspase 1, apoptosis-related cysteine peptidase pseudogene 3

CASP1P2 Gene

caspase 1, apoptosis-related cysteine peptidase pseudogene 2

RHOBTB2 Gene

Rho-related BTB domain containing 2

The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

RHOBTB3 Gene

Rho-related BTB domain containing 3

RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004]

RHOBTB1 Gene

Rho-related BTB domain containing 1

The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

AP2M1 Gene

adaptor-related protein complex 2, mu 1 subunit

This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LRP1B Gene

low density lipoprotein receptor-related protein 1B

LRP1B belongs to the low density lipoprotein (LDL) receptor gene family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands (Liu et al., 2001 [PubMed 11384978]).[supplied by OMIM, Mar 2008]

LRP10 Gene

low density lipoprotein receptor-related protein 10

LRP11 Gene

low density lipoprotein receptor-related protein 11

LRP12 Gene

low density lipoprotein receptor-related protein 12

This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

HPR Gene

haptoglobin-related protein

This gene encodes a haptoglobin-related protein that binds hemoglobin as efficiently as haptoglobin. Unlike haptoglobin, plasma concentration of this protein is unaffected in patients with sickle cell anemia and extensive intravascular hemolysis, suggesting a difference in binding between haptoglobin-hemoglobin and haptoglobin-related protein-hemoglobin complexes to CD163, the hemoglobin scavenger receptor. This protein may also be a clinically important predictor of recurrence of breast cancer. [provided by RefSeq, Oct 2011]

CEACAMP8 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 8

CEACAMP9 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 9

CEACAMP2 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 2

CEACAMP3 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 3

CEACAMP1 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 1

CEACAMP6 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 6

CEACAMP7 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 7

CEACAMP4 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 4

CEACAMP5 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 5

SMARCA1 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1

This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

SMARCA2 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]

SMARCA4 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

SMARCA5 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]

CALCA Gene

calcitonin-related polypeptide alpha

This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator and as an antimicrobial peptide while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2014]

CALCB Gene

calcitonin-related polypeptide beta

LOC100101126 Gene

thioredoxin-related transmembrane protein 1 pseudogene

LOC100101127 Gene

thioredoxin-related transmembrane protein 1 pseudogene

AASTH50 Gene

Allergic/atopic asthma related QTL 50

CEACAM22P Gene

carcinoembryonic antigen-related cell adhesion molecule 22, pseudogene

CRS1C Gene

Cryptidin-related sequence-1C

MTMR9 Gene

myotubularin related protein 9

This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]

MTMR8 Gene

myotubularin related protein 8

This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010]

MTMR7 Gene

myotubularin related protein 7

This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]

MTMR6 Gene

myotubularin related protein 6

MTMR4 Gene

myotubularin related protein 4

MTMR3 Gene

myotubularin related protein 3

This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MTMR2 Gene

myotubularin related protein 2

This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

MTMR1 Gene

myotubularin related protein 1

This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

LOC390101 Gene

MAS-related GPR, member X1 pseudogene

FLT3LG Gene

fms-related tyrosine kinase 3 ligand

Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011]

SNRK Gene

SNF related kinase

SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009]

IFRD2 Gene

interferon-related developmental regulator 2

HSPB6 Gene

heat shock protein, alpha-crystallin-related, B6

This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012]

FKRP Gene

fukutin related protein

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]

HDGFRP2 Gene

hepatoma-derived growth factor-related protein 2

This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of this protein to tri-methylated lysines 36 and 79 of histone H3, and di- and tri-methylated lysine 20 of histone H4. The protein functions in LEDGF/p75-independent HIV-1 replication by determining HIV-1 integration site selection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

HDGFRP3 Gene

hepatoma-derived growth factor, related protein 3

RUNX2 Gene

runt-related transcription factor 2

This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2008]

RUNX3 Gene

runt-related transcription factor 3

This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RUNX1 Gene

runt-related transcription factor 1

Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ESRG Gene

embryonic stem cell related (non-protein coding)

LOC100422558 Gene

SMG1 phosphatidylinositol 3-kinase-related kinase pseudogene

LOC100422696 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 pseudogene

LOC100422695 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 pseudogene

LOC100418598 Gene

MHC class I polypeptide-related sequence B pseudogene

LOC100418599 Gene

MHC class I polypeptide-related sequence B pseudogene

C1QTNF8 Gene

C1q and tumor necrosis factor related protein 8

C1QTNF9 Gene

C1q and tumor necrosis factor related protein 9

C1QTNF2 Gene

C1q and tumor necrosis factor related protein 2

C1QTNF3 Gene

C1q and tumor necrosis factor related protein 3

C1QTNF1 Gene

C1q and tumor necrosis factor related protein 1

C1QTNF6 Gene

C1q and tumor necrosis factor related protein 6

C1QTNF7 Gene

C1q and tumor necrosis factor related protein 7

C1QTNF4 Gene

C1q and tumor necrosis factor related protein 4

C1QTNF5 Gene

C1q and tumor necrosis factor related protein 5

This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]

AASTH39 Gene

Allergic/atopic asthma related QTL 39

AASTH36 Gene

Allergic/atopic asthma related QTL 36

AASTH35 Gene

Allergic/atopic asthma related QTL 35

AASTH34 Gene

Allergic/atopic asthma related QTL 34

AASTH33 Gene

Allergic/atopic asthma related QTL 33

AASTH32 Gene

Allergic/Atopic asthma related QTL 32

AASTH31 Gene

Allergic/atopic asthma related QTL 31

AASTH30 Gene

Allergic/atopic asthma related QTL 30

INSRR Gene

insulin receptor-related receptor

AASTH5 Gene

Allergic/atopic asthma related QTL 5

ARMS2 Gene

age-related maculopathy susceptibility 2

This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration. [provided by RefSeq, Oct 2008]

CASP10 Gene

caspase 10, apoptosis-related cysteine peptidase

This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]

CASP14 Gene

caspase 14, apoptosis-related cysteine peptidase

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008]

CASP16 Gene

caspase 16, apoptosis-related cysteine peptidase (putative)

GLIPR1L1 Gene

GLI pathogenesis-related 1 like 1

GLIPR1L2 Gene

GLI pathogenesis-related 1 like 2

This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

SORL1 Gene

sortilin-related receptor, L(DLR class) A repeats containing

This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded protein is translated as a preproprotein and likely plays roles in endocytosis and sorting. There may be an association between expression of this locus and Alzheimer's Disease.[provided by RefSeq, Sep 2010]

LOC100128803 Gene

Spi-C transcription factor (Spi-1/PU.1 related) pseudogene

MTMR9LP Gene

myotubularin related protein 9-like, pseudogene

MTMR14 Gene

myotubularin related protein 14

This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]

MTMR12 Gene

myotubularin related protein 12

Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

MTMR11 Gene

myotubularin related protein 11

MTMR10 Gene

myotubularin related protein 10

LOC100287074 Gene

ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) pseudogene

AP3B1 Gene

adaptor-related protein complex 3, beta 1 subunit

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

AP3B2 Gene

adaptor-related protein complex 3, beta 2 subunit

Adaptor protein-3 (AP3) is a heterotetrameric vesicle-coat protein complex. Some AP3 subunits are ubiquitously expressed, whereas others are expressed exclusively in neurons. The neuron-specific AP3 complex, which includes AP3B2, is thought to serve neuron-specific functions such as neurotransmitter release (Grabner et al., 2006 [PubMed 16788073]).[supplied by OMIM, Mar 2008]

ARPC3 Gene

actin related protein 2/3 complex, subunit 3, 21kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

ARPC2 Gene

actin related protein 2/3 complex, subunit 2, 34kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

ARPC5 Gene

actin related protein 2/3 complex, subunit 5, 16kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

LOC100128268 Gene

actin-related protein T1 pseudogene

HRES2 Gene

HTLV-1 related endogenous sequence 2

HRES1 Gene

HTLV-1 related endogenous sequence

STARD8 Gene

StAR-related lipid transfer (START) domain containing 8

This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010]

STARD3 Gene

StAR-related lipid transfer (START) domain containing 3

This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

STARD6 Gene

StAR-related lipid transfer (START) domain containing 6

Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]

STARD7 Gene

StAR-related lipid transfer (START) domain containing 7

Although the function of this gene is not known, its existence is supported by mRNA and EST data. The predicted gene product contains a region similar to the STAR-related lipid transfer (START) domain, which is often present in proteins involved in the cell signaling mediated by lipid binding. Alternatively spliced transcript variants have been described, although some transcripts occur only in cancer cell lines. [provided by RefSeq, Jul 2008]

NTPCR Gene

nucleoside-triphosphatase, cancer-related

FRK Gene

fyn-related Src family tyrosine kinase

The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq, Jul 2008]

MFRP Gene

membrane frizzled-related protein

This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]

FLT1P1 Gene

fms-related tyrosine kinase 1 pseudogene 1

AP5M1 Gene

adaptor-related protein complex 5, mu 1 subunit

ARPC3P2 Gene

actin related protein 2/3 complex, subunit 3 pseudogene 2

ARPC3P3 Gene

actin related protein 2/3 complex, subunit 3 pseudogene 3

ARPC3P1 Gene

actin related protein 2/3 complex, subunit 3 pseudogene 1

ARPC3P5 Gene

actin related protein 2/3 complex, subunit 3 pseudogene 5

CDKL1 Gene

cyclin-dependent kinase-like 1 (CDC2-related kinase)

This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

CDKL2 Gene

cyclin-dependent kinase-like 2 (CDC2-related kinase)

This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]

DPRXP4 Gene

divergent-paired related homeobox pseudogene 4

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008]

DPRXP5 Gene

divergent-paired related homeobox pseudogene 5

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008]

DPRXP6 Gene

divergent-paired related homeobox pseudogene 6

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008]

DPRXP7 Gene

divergent-paired related homeobox pseudogene 7

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008]

DPRXP1 Gene

divergent-paired related homeobox pseudogene 1

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008]

DPRXP2 Gene

divergent-paired related homeobox pseudogene 2

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008]

DPRXP3 Gene

divergent-paired related homeobox pseudogene 3

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008]

LOC105369238 Gene

synaptic vesicle 2-related protein

LOC100131124 Gene

adaptor-related protein complex 4, sigma 1 subunit pseudogene

ABR Gene

active BCR-related

This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]

KCND1 Gene

potassium channel, voltage gated Shal related subfamily D, member 1

This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction. [provided by RefSeq, Aug 2013]

KCND3 Gene

potassium channel, voltage gated Shal related subfamily D, member 3

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]

KCND2 Gene

potassium channel, voltage gated Shal related subfamily D, member 2

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]

LOC204800 Gene

actin related protein 2/3 complex, subunit 1A, 41kDa pseudogene

RAC1P9 Gene

ras-related C3 botulinum toxin substrate 1 pseudogene 9

RAC1P8 Gene

ras-related C3 botulinum toxin substrate 1 pseudogene 8

RAC1P6 Gene

ras-related C3 botulinum toxin substrate 1 pseudogene 6

AP1G1 Gene

adaptor-related protein complex 1, gamma 1 subunit

Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

AP1G2 Gene

adaptor-related protein complex 1, gamma 2 subunit

Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is compsed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. Several alternatively spliced transcript variants of this gene exist, but their full-length nature is not known. [provided by RefSeq, Aug 2013]

XKRY Gene

XK, Kell blood group complex subunit-related, Y-linked

This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

XKRX Gene

XK, Kell blood group complex subunit-related, X-linked

This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010]

GRAP Gene

GRB2-related adaptor protein

This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012]

LOC252862 Gene

CDC26 subunit of anaphase promoting complex-related gene

XKR5 Gene

XK, Kell blood group complex subunit-related family, member 5

XKR4 Gene

XK, Kell blood group complex subunit-related family, member 4

XKR7 Gene

XK, Kell blood group complex subunit-related family, member 7

XKR6 Gene

XK, Kell blood group complex subunit-related family, member 6

XKR3 Gene

XK, Kell blood group complex subunit-related family, member 3

XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008]

LOC401602 Gene

adaptor-related protein complex 2, beta 1 subunit pseudogene

AASTH28 Gene

Allergic/Atopic asthma related QTL 28

AASTH23 Gene

Allergic/atopic asthma related QTL 23

LOC645388 Gene

adaptor-related protein complex 1, mu 2 subunit pseudogene

TDRG1 Gene

testis development related 1 (non-protein coding)

ATG3 Gene

autophagy related 3

This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

ATG7 Gene

autophagy related 7

This gene was identified based on homology to Pichia pastoris GSA7 and Saccharomyces cerevisiae APG7. In the yeast, the protein appears to be required for fusion of peroxisomal and vacuolar membranes. The protein shows homology to the ATP-binding and catalytic sites of the E1 ubiquitin activating enzymes. [provided by RefSeq, Jan 2009]

ATG5 Gene

autophagy related 5

AP1AR Gene

adaptor-related protein complex 1 associated regulatory protein

HIP1R Gene

huntingtin interacting protein 1 related

C1QTNF9B Gene

C1q and tumor necrosis factor related protein 9B

CEACAM1 Gene

carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)

This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010]

CEACAM3 Gene

carcinoembryonic antigen-related cell adhesion molecule 3

This gene encodes a member of the family of carcinoembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]

CEACAM5 Gene

carcinoembryonic antigen-related cell adhesion molecule 5

Members of the CEACAM subfamily, including CEACAM5, belong to the CEA gene family. For general information on the CEA gene family, see CEACAM1 (MIM 109770).[supplied by OMIM, Oct 2009]

CEACAM4 Gene

carcinoembryonic antigen-related cell adhesion molecule 4

CEACAM7 Gene

carcinoembryonic antigen-related cell adhesion molecule 7

CEACAM6 Gene

carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)

This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations of carcinoma. This gene affects the sensitivity of tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface of ileal epithelial cells in patients with Crohn's disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19. [provided by RefSeq, Apr 2014]

CEACAM8 Gene

carcinoembryonic antigen-related cell adhesion molecule 8

NAT8B Gene

N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene)

The protein encoded by this gene is highly similar to the N-acetyltransferase 8 (NAT8) gene product, which is a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and may represent a pseudogene of NAT8. This gene contains two polymorphic nonsense mutations that disrupt the active site of the protein. The full-length product of this gene contains a complete acetyltransferase domain and is identical in length to NAT8. [provided by RefSeq, Jul 2008]

NAT8L Gene

N-acetyltransferase 8-like (GCN5-related, putative)

This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010]

HEYL Gene

hes-related family bHLH transcription factor with YRPW motif-like

This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

HEY2 Gene

hes-related family bHLH transcription factor with YRPW motif 2

This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

HEY1 Gene

hes-related family bHLH transcription factor with YRPW motif 1

This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

LOC100130114 Gene

Spi-C transcription factor (Spi-1/PU.1 related) pseudogene

SPIB Gene

Spi-B transcription factor (Spi-1/PU.1 related)

The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

SPIC Gene

Spi-C transcription factor (Spi-1/PU.1 related)

RAC1P7 Gene

ras-related C3 botulinum toxin substrate 1 pseudogene 7

PNLIPRP1 Gene

pancreatic lipase-related protein 1

PNLIPRP3 Gene

pancreatic lipase-related protein 3

PNLIPRP2 Gene

pancreatic lipase-related protein 2

LOC100421655 Gene

adaptor-related protein complex 3, mu 2 subunit pseudogene

PVRIG2P Gene

poliovirus receptor related immunoglobulin domain containing 2, pseudogene

MURC Gene

muscle-related coiled-coil protein

This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013]

ARX Gene

aristaless related homeobox

This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq, Jul 2008]

FZR1 Gene

fizzy/cell division cycle 20 related 1 (Drosophila)

Formin, protein diaphanous homologue 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin, protein diaphanous homologue 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin, protein diaphanous homologue 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin, protein diaphanous homologue 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin, diaphanous autoregulatory (DAD) domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin, diaphanous autoregulatory (DAD) domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

cocaine-related disorders; opioid-related disorders; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cocaine-related disorders; opioid-related disorders; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diaphanous Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term diaphanous in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Protein diaphanous homologue 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein diaphanous homologue 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

formin Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term formin in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

formin-nucleated actin cable assembly Gene Set

From GO Biological Process Annotations

genes participating in the formin-nucleated actin cable assembly biological process from the curated GO Biological Process Annotations dataset.

Inverted formin-2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inverted formin-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin, GTPase-binding and FH3 domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin, GTPase-binding and FH3 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin, GTPase-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin, GTPase-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin-binding protein 1-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin-binding protein 1-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin-binding protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin-binding protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin homology family, Cappuccino subfamily Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin homology family, Cappuccino subfamily protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin, FH3 domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin, FH3 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin, FH2 domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin, FH2 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin Homology 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin Homology 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin-like protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin-like protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin-like protein 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin-like protein 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Formin-like protein 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Formin-like protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

alcohol-related disorders; cocaine-related disorders; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcohol-related disorders; cocaine-related disorders; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; opioid-related disorders; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; opioid-related disorders; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; cocaine-related disorders; heroin dependence; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; cocaine-related disorders; heroin dependence; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anticoagulant complications; bleeding events, warfarin therapy-related; overanticoagulation, warfarin therapy-related Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anticoagulant complications; bleeding events, warfarin therapy-related; overanticoagulation, warfarin therapy-related in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Actin-related protein 8/Plant actin-related protein 9 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Actin-related protein 8/Plant actin-related protein 9 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Superior colliculus, motor related, intermediate white layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Superior colliculus, motor related, intermediate white layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Midbrain, sensory related Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Midbrain, sensory related relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Thalamus, polymodal association cortex related Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Thalamus, polymodal association cortex related relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Superior colliculus, motor related, deep white layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Superior colliculus, motor related, deep white layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Midbrain, behavioral state related Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Midbrain, behavioral state related relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Superior colliculus, sensory related Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Superior colliculus, sensory related relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Midbrain, motor related Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Midbrain, motor related relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Superior colliculus, motor related Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Superior colliculus, motor related relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Superior colliculus, motor related, deep gray layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Superior colliculus, motor related, deep gray layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Superior colliculus, motor related, intermediate gray layer, sublayer a Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Superior colliculus, motor related, intermediate gray layer, sublayer a relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Superior colliculus, motor related, intermediate gray layer, sublayer c Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Superior colliculus, motor related, intermediate gray layer, sublayer c relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Superior colliculus, motor related, intermediate gray layer, sublayer b Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Superior colliculus, motor related, intermediate gray layer, sublayer b relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Pons, motor related Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Pons, motor related relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Thalamus, sensory-motor cortex related Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Thalamus, sensory-motor cortex related relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Pons, behavioral state related Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Pons, behavioral state related relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Superior colliculus, motor related, intermediate gray layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Superior colliculus, motor related, intermediate gray layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Pons, sensory related Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Pons, sensory related relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Medulla, motor related Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Medulla, motor related relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Medulla, sensory related Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Medulla, sensory related relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

tnf/stress related signaling Gene Set

From Biocarta Pathways

proteins participating in the tnf/stress related signaling pathway from the Biocarta Pathways dataset.

Myofibrillar myopathy, ZASP-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myofibrillar myopathy, ZASP-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

RRM2B-related mitochondrial disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the RRM2B-related mitochondrial disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, histidine-rich glycoprotein-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, histidine-rich glycoprotein-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myofibrillar myopathy, filamin C-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myofibrillar myopathy, filamin C-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

FLNB-Related Disorders Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the FLNB-Related Disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ZNF711-Related X-linked Mental Retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ZNF711-Related X-linked Mental Retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NSDHL-Related Disorders Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NSDHL-Related Disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation, with or without seizures, ARX-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation, with or without seizures, ARX-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Age-related macular degeneration 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Age-related macular degeneration 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Age-related macular degeneration 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Age-related macular degeneration 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

WFS1-Related Disorders Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the WFS1-Related Disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Age-related macular degeneration 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Age-related macular degeneration 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Age-related macular degeneration 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Age-related macular degeneration 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

GATA-1-related thrombocytopenia with dyserythropoiesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the GATA-1-related thrombocytopenia with dyserythropoiesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

46,XY gonadal dysgenesis, complete, dhh-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 46,XY gonadal dysgenesis, complete, dhh-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CATSPER-Related Male Infertility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CATSPER-Related Male Infertility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYH9 related disorders Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MYH9 related disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

BLOC-3 (biogenesis of lysosome-related organelles complex 3) Gene Set

From CORUM Protein Complexes

proteins in the BLOC-3 (biogenesis of lysosome-related organelles complex 3) protein complex from the CORUM Protein Complexes dataset.

BLOC-1 (biogenesis of lysosome-related organelles complex 1) Gene Set

From CORUM Protein Complexes

proteins in the BLOC-1 (biogenesis of lysosome-related organelles complex 1) protein complex from the CORUM Protein Complexes dataset.

BLOC-2 (biogenesis of lysosome-related organelles complex 2) Gene Set

From CORUM Protein Complexes

proteins in the BLOC-2 (biogenesis of lysosome-related organelles complex 2) protein complex from the CORUM Protein Complexes dataset.

SWI-SNF chromatin remodeling-related-BRCA1 complex Gene Set

From CORUM Protein Complexes

proteins in the SWI-SNF chromatin remodeling-related-BRCA1 complex protein complex from the CORUM Protein Complexes dataset.

SWI/SNF-related complex Gene Set

From CORUM Protein Complexes

proteins in the SWI/SNF-related complex protein complex from the CORUM Protein Complexes dataset.

myristoylated autocamtide-2-related inhibitory peptide Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical myristoylated autocamtide-2-related inhibitory peptide from the curated CTD Gene-Chemical Interactions dataset.

calcitonin gene-related peptide (8-37) Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical calcitonin gene-related peptide (8-37) from the curated CTD Gene-Chemical Interactions dataset.

Macular Degeneration, Age-Related, 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 11 from the curated CTD Gene-Disease Associations dataset.

AIDS-Related Opportunistic Infections Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AIDS-Related Opportunistic Infections from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration, Age-Related, 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 10 from the curated CTD Gene-Disease Associations dataset.

Opioid-Related Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Opioid-Related Disorders from the curated CTD Gene-Disease Associations dataset.

Glaucoma-Related Pigment Dispersion Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma-Related Pigment Dispersion Syndrome from the curated CTD Gene-Disease Associations dataset.

Drug Metabolism, Poor, CYP2D6-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Drug Metabolism, Poor, CYP2D6-Related from the curated CTD Gene-Disease Associations dataset.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 from the curated CTD Gene-Disease Associations dataset.

Drug Metabolism, Poor, CYP2C19-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Drug Metabolism, Poor, CYP2C19-Related from the curated CTD Gene-Disease Associations dataset.

AIDS-Related Complex Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AIDS-Related Complex from the curated CTD Gene-Disease Associations dataset.

Alcohol-Related Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alcohol-Related Disorders from the curated CTD Gene-Disease Associations dataset.

NEVER IN MITOSIS GENE A-RELATED KINASE 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEVER IN MITOSIS GENE A-RELATED KINASE 1 from the curated CTD Gene-Disease Associations dataset.

Cerebral Amyloid Angiopathy, App-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral Amyloid Angiopathy, App-Related from the curated CTD Gene-Disease Associations dataset.

NOG-Related-Symphalangism Spectrum Disorder Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NOG-Related-Symphalangism Spectrum Disorder from the curated CTD Gene-Disease Associations dataset.

CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 from the curated CTD Gene-Disease Associations dataset.

Amyloidosis, Hereditary, Transthyretin-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Amyloidosis, Hereditary, Transthyretin-Related from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration, Age-Related, 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 9 from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration, Age-Related, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 3 from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration, Age-Related, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 2 from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration, Age-Related, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 1 from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration, Age-Related, 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 7 from the curated CTD Gene-Disease Associations dataset.

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED from the curated CTD Gene-Disease Associations dataset.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3 from the curated CTD Gene-Disease Associations dataset.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7 from the curated CTD Gene-Disease Associations dataset.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 from the curated CTD Gene-Disease Associations dataset.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, Syndromic, Jarid1c-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic, Jarid1c-Related from the curated CTD Gene-Disease Associations dataset.

Lymphoma, AIDS-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lymphoma, AIDS-Related from the curated CTD Gene-Disease Associations dataset.

AIDS-related Kaposi sarcoma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AIDS-related Kaposi sarcoma from the curated CTD Gene-Disease Associations dataset.

Cocaine-Related Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cocaine-Related Disorders from the curated CTD Gene-Disease Associations dataset.

Substance-Related Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Substance-Related Disorders from the curated CTD Gene-Disease Associations dataset.

46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related from the curated CTD Gene-Disease Associations dataset.

Cataract, Age-Related Cortical, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Age-Related Cortical, 1 from the curated CTD Gene-Disease Associations dataset.

SCAPULOPERONEAL MYOPATHY, MYH7-RELATED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SCAPULOPERONEAL MYOPATHY, MYH7-RELATED from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration, Age-Related, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 4 from the curated CTD Gene-Disease Associations dataset.

Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related from the curated CTD Gene-Disease Associations dataset.

Gout, HPRT-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gout, HPRT-Related from the curated CTD Gene-Disease Associations dataset.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related from the curated CTD Gene-Disease Associations dataset.

Age-Related Hearing Impairment 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Age-Related Hearing Impairment 1 from the curated CTD Gene-Disease Associations dataset.

Cardiac Arrhythmia, Ankyrin-B-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardiac Arrhythmia, Ankyrin-B-Related from the curated CTD Gene-Disease Associations dataset.

MYH9-Related Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYH9-Related Disorders from the curated CTD Gene-Disease Associations dataset.

Amphetamine-Related Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Amphetamine-Related Disorders from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related from the curated CTD Gene-Disease Associations dataset.

Myostatin-related muscle hypertrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myostatin-related muscle hypertrophy from the curated CTD Gene-Disease Associations dataset.

Drug-Related Side Effects and Adverse Reactions Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Drug-Related Side Effects and Adverse Reactions from the curated CTD Gene-Disease Associations dataset.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 from the curated CTD Gene-Disease Associations dataset.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6 from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Lmna-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Lmna-Related from the curated CTD Gene-Disease Associations dataset.

Substance-Related Disorders Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Substance-Related Disorders in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

sost-related sclerosing bone dysplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease sost-related sclerosing bone dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

age related macular degeneration Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease age related macular degeneration from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

substance-related disorder Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease substance-related disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

alcohol-related birth defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease alcohol-related birth defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

sost-related sclerosing bone dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease sost-related sclerosing bone dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

substance-related disorder Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease substance-related disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

age related macular degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease age related macular degeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

alcohol-related neurodevelopmental disorder Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease alcohol-related neurodevelopmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cerebral amyloid angiopathy-related hemorrhage. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral amyloid angiopathy-related hemorrhage. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obesity-related traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity-related traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aids dementia complex; aids related dementia complex Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aids dementia complex; aids related dementia complex in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcohol-related disorders; neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcohol-related disorders; neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

speech disorders; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease speech disorders; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apnea; opioid-related disorders; pain Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apnea; opioid-related disorders; pain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

5-fluorouracil- related toxicity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease 5-fluorouracil- related toxicity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

methadone-related deaths Gene Set

From GAD Gene-Disease Associations

genes associated with the disease methadone-related deaths in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aids-related opportunistic infections; herpes genitalis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aids-related opportunistic infections; herpes genitalis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

microangiopathy- related cerebral damage (marcd) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease microangiopathy- related cerebral damage (marcd) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, malaria related; malaria, cerebral Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, malaria related; malaria, cerebral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cocaine-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cocaine-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

event-related prefrontal activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease event-related prefrontal activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ill health, sheep dip related Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ill health, sheep dip related in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angiotensin-converting enzyme inhibitor-related cough Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angiotensin-converting enzyme inhibitor-related cough in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acquired immunodeficiency syndrome; aids dementia complex; aids related dementia complex; disease progression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acquired immunodeficiency syndrome; aids dementia complex; aids related dementia complex; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

age-related macular degeneration (wet) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease age-related macular degeneration (wet) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

p300 event-related potential Gene Set

From GAD Gene-Disease Associations

genes associated with the disease p300 event-related potential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

psychoses, substance-induced; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease psychoses, substance-induced; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrophy; prenatal exposure delayed effects; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrophy; prenatal exposure delayed effects; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mouth neoplasms; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mouth neoplasms; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cigarette smoking- related bladder cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cigarette smoking- related bladder cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aids-related opportunistic infections; tuberculosis; tuberculosis, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aids-related opportunistic infections; tuberculosis; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; cocaine-related disorders; substance withdrawal syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; cocaine-related disorders; substance withdrawal syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cough, angiotensin-converting enzyme; inhibitor-related Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cough, angiotensin-converting enzyme; inhibitor-related in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amphetamine-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amphetamine-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

opioid-related disorders; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease opioid-related disorders; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amphetamine-related disorders; brain diseases, metabolic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amphetamine-related disorders; brain diseases, metabolic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

age-related skeletal disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease age-related skeletal disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

opioid-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease opioid-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver steatosis, hepatitis c virus-related; steatohepatitis, nonalcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver steatosis, hepatitis c virus-related; steatohepatitis, nonalcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cocaine-related disorders; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cocaine-related disorders; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

macular degeneration, age-related Gene Set

From GAD Gene-Disease Associations

genes associated with the disease macular degeneration, age-related in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis b-related hepatocellular carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b-related hepatocellular carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heroin dependence; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heroin dependence; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial age-related macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial age-related macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amphetamine-related disorders; psychoses, substance-induced Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amphetamine-related disorders; psychoses, substance-induced in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acquired immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acquired immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neuroblastoma; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neuroblastoma; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcohol-related disorders; carcinoma, squamous cell; head and neck neoplasms; squamous cell carcinoma; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcohol-related disorders; carcinoma, squamous cell; head and neck neoplasms; squamous cell carcinoma; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism-related traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism-related traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

opioid-related disorders; substance withdrawal syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease opioid-related disorders; substance withdrawal syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

emphysema; pulmonary disease, chronic obstructive; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease emphysema; pulmonary disease, chronic obstructive; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ovarian cancer- methotrexate related toxicity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ovarian cancer- methotrexate related toxicity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aids-related opportunistic infections; hiv infections; [x]human immunodeficiency virus disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aids-related opportunistic infections; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

type 2 diabetes related glucose homeostasis trait Gene Set

From GAD Gene-Disease Associations

genes associated with the disease type 2 diabetes related glucose homeostasis trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

drug-related genes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease drug-related genes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amphetamine-related disorders; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amphetamine-related disorders; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; marijuana abuse; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; marijuana abuse; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neuropathy, alzheimer's disease related Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neuropathy, alzheimer's disease related in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

waist circumference and related phenotypes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease waist circumference and related phenotypes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pregnancy-related first time venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pregnancy-related first time venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

age-related maculopathy. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease age-related maculopathy. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fasting insulin-related traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fasting insulin-related traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amphetamine-related disorders; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amphetamine-related disorders; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aids-related opportunistic infections; drug hypersensitivity; pneumonia, pneumocystis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aids-related opportunistic infections; drug hypersensitivity; pneumonia, pneumocystis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

type 2 diabetes; serum triacylglycerol ; ogtt-related insulinaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease type 2 diabetes; serum triacylglycerol ; ogtt-related insulinaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

type 2 diabetes related glucose homeostasis traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease type 2 diabetes related glucose homeostasis traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, squamous cell; mouth neoplasms; papillomavirus infections; squamous cell carcinoma; substance-related disorders; tumor virus infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; mouth neoplasms; papillomavirus infections; squamous cell carcinoma; substance-related disorders; tumor virus infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcohol-related polyneuropathy; alcoholic neuropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcohol-related polyneuropathy; alcoholic neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; disease susceptibility; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; disease susceptibility; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anxiety-related temperament and behavior problems Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anxiety-related temperament and behavior problems in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aflatoxin-related hepatocarcinogenesis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aflatoxin-related hepatocarcinogenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes related insulin traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes related insulin traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c, chronic; substance-related disorders; viremia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; substance-related disorders; viremia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anger-related traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anger-related traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

age-related maculopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease age-related maculopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mesothelin-related protein levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mesothelin-related protein levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hematopoietic outcomes, lead exposure related; lead Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hematopoietic outcomes, lead exposure related; lead in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anxiety-related personality traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anxiety-related personality traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

age-related macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease age-related macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prevalent type 2 diabetes and related traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease prevalent type 2 diabetes and related traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcohol-related disorders; alcoholism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcohol-related disorders; alcoholism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sepsis-related organ dysfunction and shock after burn injury Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sepsis-related organ dysfunction and shock after burn injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anxiety-related traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anxiety-related traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

agricultural workers' diseases; dna damage; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease agricultural workers' diseases; dna damage; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

substance withdrawal syndrome; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease substance withdrawal syndrome; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

migraine disorders; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease migraine disorders; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

central nervous system neoplasms; central nervous system tumors; hiv infections; lymphoma, aids-related; [x]human immunodeficiency virus disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease central nervous system neoplasms; central nervous system tumors; hiv infections; lymphoma, aids-related; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

allergic diseases (bronchial asthma. atopic dermatitis and/or food-related anaphylaxis) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease allergic diseases (bronchial asthma. atopic dermatitis and/or food-related anaphylaxis) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; dermatitis and eczema; anaphylaxis, food-related Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; dermatitis and eczema; anaphylaxis, food-related in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; cocaine-related disorders; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; cocaine-related disorders; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acquired immunodeficiency syndrome; kaposi sarcoma; lymphoma, aids-related; sarcoma, kaposi Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acquired immunodeficiency syndrome; kaposi sarcoma; lymphoma, aids-related; sarcoma, kaposi in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aids-related opportunistic infections; cytomegalovirus retinitis; encephalomyelitis; hiv infections; hypersensitivity; mycobacterium avium-intracellulare infection; [x]human immunodeficiency virus disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aids-related opportunistic infections; cytomegalovirus retinitis; encephalomyelitis; hiv infections; hypersensitivity; mycobacterium avium-intracellulare infection; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acei-related cough Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acei-related cough in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; cocaine-related disorders; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; cocaine-related disorders; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcohol-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcohol-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fasting glucose-related traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fasting glucose-related traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

opioid-related disorders; pain Gene Set

From GAD Gene-Disease Associations

genes associated with the disease opioid-related disorders; pain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aids-related opportunistic infections; hiv infections; tuberculosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aids-related opportunistic infections; hiv infections; tuberculosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

osteoporosis-related phenotypes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease osteoporosis-related phenotypes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

treatment-related leukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease treatment-related leukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

li-fraumeni and related syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease li-fraumeni and related syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acquired immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acquired immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

related Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term related in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

response to defense-related nitric oxide production by other organism involved in symbiotic interaction Gene Set

From GO Biological Process Annotations

genes participating in the response to defense-related nitric oxide production by other organism involved in symbiotic interaction biological process from the curated GO Biological Process Annotations dataset.

response to defense-related host reactive oxygen species production Gene Set

From GO Biological Process Annotations

genes participating in the response to defense-related host reactive oxygen species production biological process from the curated GO Biological Process Annotations dataset.

positive regulation by organism of defense-related nitric oxide production in other organism involved in symbiotic interaction Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation by organism of defense-related nitric oxide production in other organism involved in symbiotic interaction biological process from the curated GO Biological Process Annotations dataset.

response to defense-related host nitric oxide production Gene Set

From GO Biological Process Annotations

genes participating in the response to defense-related host nitric oxide production biological process from the curated GO Biological Process Annotations dataset.

modulation by symbiont of defense-related host nitric oxide production Gene Set

From GO Biological Process Annotations

genes participating in the modulation by symbiont of defense-related host nitric oxide production biological process from the curated GO Biological Process Annotations dataset.

induction by symbiont of defense-related host nitric oxide production Gene Set

From GO Biological Process Annotations

genes participating in the induction by symbiont of defense-related host nitric oxide production biological process from the curated GO Biological Process Annotations dataset.