Name

CTD Gene-Disease Associations Dataset

From Comparative Toxicogenomics Database

disease-gene interactions curated from literature

DISEASES Curated Gene-Disease Assocation Evidence Scores Dataset

From DISEASES

disease gene evidence scores by manual literature curation

DISEASES Experimental Gene-Disease Assocation Evidence Scores Dataset

From DISEASES

disease gene evidence scores by integrating experimental data (GWAS)

DISEASES Text-mining Gene-Disease Assocation Evidence Scores Dataset

From DISEASES

gene-disease co-occurrence scores from text-mining biomedical abstracts

GAD Gene-Disease Associations Dataset

From Genetic Association Database

gene-disease associations curated from genetic association studies

GAD High Level Gene-Disease Associations Dataset

From Genetic Association Database

gene-disease associations curated from genetic association studies

GWASdb SNP-Disease Associations Dataset

From GWASdb

SNP-disease association p-values curated from published GWAS

HPO Gene-Disease Associations Dataset

From Human Phenotype Ontology

phenotype-causing gene mutations of human phenotypes from disease knowledgebases

OMIM Gene-Disease Associations Dataset

From Online Mendelian Inheritance in Man

disease- or phenotype-causing gene mutations for heritable human diseases or phenotypes curated from biomedical publications

PhosphoSitePlus Phosphosite-Disease Associations Dataset

From PhosphoSitePlus

disease-phosphosite associations curated from literature

HIVEP1 Gene

human immunodeficiency virus type I enhancer binding protein 1

This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]

HIVEP2 Gene

human immunodeficiency virus type I enhancer binding protein 2

This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012]

HIVEP3 Gene

human immunodeficiency virus type I enhancer binding protein 3

This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011]

DGS2 Gene

DiGeorge syndrome/velocardiofacial syndrome complex 2

PIH2 Gene

pregnancy-induced hypertension syndrome-related protein

GPDS1 Gene

glaucoma-related pigment dispersion syndrome 1

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]

RDPA Gene

refsum disease, adult, with increased pipecolicacidemia

NPC2 Gene

Niemann-Pick disease, type C2

This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]

NPC1 Gene

Niemann-Pick disease, type C1

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]

CMT2H Gene

Charcot-Marie-Tooth disease, axonal, type 2H

CMT2G Gene

Charcot-Marie-Tooth disease, axonal, type 2G

GRD2 Gene

Graves disease, susceptibility to, 2

GRD1 Gene

Graves disease, susceptiblity to, 1

GRDX Gene

Graves disease, susceptibility to, X-linked

COPD14 Gene

Chronic obstructive pulmonary disease QTL 14

PDDC1 Gene

Parkinson disease 7 domain containing 1

CELIAC8 Gene

Celiac disease, susceptibility to, 8

CELIAC2 Gene

celiac disease 2

CELIAC5 Gene

Celiac disease, susceptibility to, 5

CELIAC6 Gene

Celiac disease, susceptibility to, 6

CELIAC7 Gene

Celiac disease, susceptibility to, 7

AIS4 Gene

autoimmune disease, susceptibility to, 4

COPD3 Gene

Chronic obstructive pulmonary disease QTL 3

COPD2 Gene

Chronic obstructive pulmonary disease QTL 2

COPD1 Gene

Chronic obstructive pulmonary disease QTL 1

COPD6 Gene

Chronic obstructive pulmonary disease QTL 6

COPD5 Gene

Chronic obstructive pulmonary disease QTL 5

COPD4 Gene

Chronic obstructive pulmonary disease QTL 4

COPD8 Gene

Chronic obstructive pulmonary disease QTL 8

PKHD1L1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1

BED Gene

Bornholm eye disease

PKD1P1 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 1

PKD1P2 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 2

PKD1P3 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 3

PKD1P4 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 4

PKD1P5 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 5

PKD1P6 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 6

PKD3 Gene

polycystic kidney disease 3 (autosomal dominant)

PKD2 Gene

polycystic kidney disease 2 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]

PKD1 Gene

polycystic kidney disease 1 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]

OED Gene

Oregon eye disease

CHDS4 Gene

Coronary heart disease, susceptibility to, 4

GBD3 Gene

gallbladder disease 3

CMTDIA Gene

Charcot-Marie-Tooth disease, dominant intermediate 2

PDB6 Gene

Paget disease of bone 6

PDB4 Gene

Paget disease of bone 4

PDB5 Gene

Paget disease of bone 5

PDB1 Gene

Paget disease of bone 1

IBD9 Gene

inflammatory bowel disease 9

IBD8 Gene

inflammatory bowel disease 8

IBD3 Gene

inflammatory bowel disease 3

IBD2 Gene

inflammatory bowel disease 2

IBD5 Gene

inflammatory bowel disease 5

IBD4 Gene

inflammatory bowel disease 4

IBD7 Gene

inflammatory bowel disease 7

IBD6 Gene

inflammatory bowel disease 6

COPD17 Gene

Chronic obstructive pulmonary disease QTL 17

GBD2 Gene

gallbladder disease 2

PAOD1 Gene

Peripheral arterial occlusive disease 1

COPD7 Gene

Chronic obstructive pulmonary disease QTL 7

COPD9 Gene

Chronic obstructive pulmonary disease QTL 9

DDD3 Gene

Dowling-Degos disease 3

NAFLD2 Gene

Fatty liver disease, nonalcoholic, susceptibility to, 2

NAFLD1 Gene

Fatty liver disease 1, susceptiblity to

EPM2A Gene

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

PKDTS Gene

polycystic kidney disease, infantile severe, with tuberous sclerosis

AITD2 Gene

Autoimmune thyroid disease, susceptibility to, 2

AITD1 Gene

Autoimmune thyroid disease, susceptibility to, 1

AITD4 Gene

Autoimmune thyroid disease, susceptibility to, 4

KWE Gene

keratolytic winter erythema (Oudtshoorn skin disease)

LOC613206 Gene

myeloproliferative disease associated tumor antigen 5

RMD1 Gene

rippling muscle disease 1

AD10 Gene

Alzheimer disease-10

AD11 Gene

Alzheimer disease-11

AD12 Gene

Alzheimer disease 12

AD13 Gene

Alzheimer disease-13

AD14 Gene

Alzheimer disease 14

AD16 Gene

Alzheimer disease 16

AD17 Gene

Alzheimer disease 17

PKD1L1 Gene

polycystic kidney disease 1 like 1

This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

PKD1L2 Gene

polycystic kidney disease 1-like 2 (gene/pseudogene)

This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

PKD1L3 Gene

polycystic kidney disease 1-like 3

This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]

HDPA Gene

Hodgkin disease, susceptibility, pseudoautosomal

AD6 Gene

Alzheimer disease 6

AD7 Gene

Alzheimer disease 7

AD5 Gene

Alzheimer disease 5

AD8 Gene

Alzheimer disease 8

AD9 Gene

Alzheimer disease 9

PARK16 Gene

Parkinson disease 16 (susceptibility)

PARK10 Gene

Parkinson disease 10 (susceptibility)

PARK12 Gene

Parkinson disease 12 (susceptibility)

HSCR9 Gene

Hirschsprung disease, susceptibility to, 9

HSCR8 Gene

Hirschsprung disease modifier 2

HSCR5 Gene

Hirschsprung disease, susceptibility to, 5

The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008 [PubMed 17965226]). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008 [PubMed 17965226]). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see MIM 142623.[supplied by OMIM, Feb 2011]

HSCR7 Gene

Hirschsprung disease, short-segment, 3

HSCR6 Gene

Hirschsprung disease, short-segment, 2

IBD27 Gene

Inflammatory bowel disease-27

IBD20 Gene

Inflammatory bowel disease-20

IBD21 Gene

Inflammatory bowel disease-21

IBD22 Gene

Inflammatory bowel disease-22

IBD23 Gene

Inflammatory bowel disease-23

IBD24 Gene

Inflammatory bowel disease-24

IBD25 Gene

Inflammatory bowel disease-25

IBD26 Gene

Inflammatory bowel disease-26

CCAL1 Gene

chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis)

PARK3 Gene

Parkinson disease 3 (autosomal dominant, Lewy body)

CELIAC9 Gene

Celiac disease, susceptibility to, 9

CTD Gene

Coats disease

AD15 Gene

Alzheimer disease-15

COPD13 Gene

Chronic obstructive pulmonary disease QTL 13

COPD12 Gene

Chronic obstructive pulmonary disease QTL 12

COPD11 Gene

Chronic obstructive pulmonary disease QTL 11

COPD10 Gene

Chronic obstructive pulmonary disease QTL 10

COPD16 Gene

Chronic obstructive pulmonary disease QTL 16

COPD15 Gene

Chronic obstructive pulmonary disease QTL 15

COPD19 Gene

Chronic obstructive pulmonary disease QTL 19

COPD18 Gene

Chronic obstructive pulmonary disease QTL 18

MYMY1 Gene

moyamoya disease 1

MYMY3 Gene

moyamoya disease 3

MYMY4 Gene

Moyamoya disease 4

COPD Gene

Pulmonary disease, chronic obstructive, severe early-onset

CHDS3 Gene

Coronary heart disease, susceptibility to, 3

CHDS2 Gene

Coronary heart disease, susceptibility to, 2

CHDS1 Gene

Coronary heart disease, susceptibility to, 1

CHDS9 Gene

Coronary heart disease, suscpetibility to, 9

CHDS8 Gene

Coronary heart disease, susceptibility to, 8

IBD11 Gene

Inflammatory bowel disease 11

IBD12 Gene

Inflammatory bowel disease 12

IBD15 Gene

Inflammatory bowel disease-15

IBD16 Gene

Inflammatory bowel disease-16

IBD19 Gene

Inflammatory bowel disease 19

IBD18 Gene

Inflammatory bowel disease-18

NDP Gene

Norrie disease (pseudoglioma)

This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]

PKHD1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]

PKD2L2 Gene

polycystic kidney disease 2-like 2

PKD2L1 Gene

polycystic kidney disease 2-like 1

This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

COPD28 Gene

Chronic obstructive pulmonary disease QTL 28

COPD29 Gene

Chronic obstructive pulmonary disease QTL 29

COPD22 Gene

Chronic obstructive pulmonary disease QTL 22

COPD23 Gene

Chronic obstructive pulmonary disease QTL 23

COPD20 Gene

Chronic obstructive pulmonary disease QTL 20

COPD21 Gene

Chronic obstructive pulmonary disease QTL 21

COPD26 Gene

Chronic obstructive pulmonary disease QTL 26

COPD27 Gene

Chronic obstructive pulmonary disease QTL 27

COPD24 Gene

Chronic obstructive pulmonary disease QTL 24

COPD25 Gene

Chronic obstructive pulmonary disease QTL 25

CELIAC12 Gene

Celiac disease, susceptibility to, 12

CELIAC13 Gene

Celiac disease, susceptibility to, 13

CELIAC10 Gene

Celiac disease, susceptibility to, 10

CELIAC11 Gene

Celiac disease, susceptibility to, 11

LOC100421559 Gene

adaptor-related protein complex 5, mu 1 subunit pseudogene

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]

AP5B1 Gene

adaptor-related protein complex 5, beta 1 subunit

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]

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]

ARPC5L Gene

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

LOC653653 Gene

adaptor-related protein complex 1, sigma 2 subunit pseudogene

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]

LOC100289381 Gene

adaptor-related protein complex 3, sigma 1 subunit pseudogene

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]

MR1 Gene

major histocompatibility complex, class I-related

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

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

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]

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

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]

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]

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]

LOC100288663 Gene

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

AP3S2 Gene

adaptor-related protein complex 3, sigma 2 subunit

AP3S1 Gene

adaptor-related protein complex 3, sigma 1 subunit

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

XKR9 Gene

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

XKR8 Gene

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

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]

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]

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]

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]

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]

AP5S1 Gene

adaptor-related protein complex 5, sigma 1 subunit

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

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]

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]

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]

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

LOC100131124 Gene

adaptor-related protein complex 4, sigma 1 subunit pseudogene

LOC204800 Gene

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

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]

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

LOC645388 Gene

adaptor-related protein complex 1, mu 2 subunit pseudogene

AP1AR Gene

adaptor-related protein complex 1 associated regulatory protein

LOC100421655 Gene

adaptor-related protein complex 3, mu 2 subunit pseudogene

TCOF1 Gene

Treacher Collins-Franceschetti syndrome 1

This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

CDAGS Gene

Craniosynostosis, anal anomalies, and porokeratosis syndrome

PISRT1 Gene

polled intersex syndrome regulated transcript 1 (non-protein coding RNA)

SPG21 Gene

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

FRIASS Gene

Frias syndrome

DEL8Q13 Gene

Mesomelia-synostoses syndrome

RENS2 Gene

Renpenning syndrome 2

DUP5P13 Gene

Chromosome 5p13 duplication syndrome

USH3B Gene

Usher syndrome 3B

ASPG2 Gene

Asperger syndrome, susceptibility to, 2

ASPG3 Gene

Asperger syndrome, susceptibility to, 3

ASPG4 Gene

Asperger syndrome, susceptibility to, 4

MGS Gene

Mungan syndrome

FWS Gene

Forsythe-Wakeling syndrome

DEL15Q26QTER Gene

Chromosome 15q26-qter deletion syndrome

SSSCA1 Gene

Sjogren syndrome/scleroderma autoantigen 1

This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008]

SPG20 Gene

spastic paraplegia 20 (Troyer syndrome)

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

JBS Gene

Jacobsen syndrome

WS2B Gene

Waardenburg syndrome, type 2B

WS2C Gene

Waardenburg syndrome, type IIC

MRXSAB Gene

Abidi X-linked mental retardation syndrome

WHSC1 Gene

Wolf-Hirschhorn syndrome candidate 1

This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]

COHEN1 Gene

Cohen syndrome QTL 1

AOMS1 Gene

Abdominal obesity-metabolic syndrome QTL1

AOMS2 Gene

abdominal obesity-metabolic syndrome QTL2

DCR Gene

Down syndrome chromosome region

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.[supplied by OMIM, Apr 2005]

DUPXP11.22 Gene

Xp11.22 microduplication syndrome

DEL15Q11.2 Gene

Chromosome 15q11.2 deletion syndrome

HHT3 Gene

Osler-Rendu-Weber syndrome 3

DEL1Q43Q44 Gene

Chromosome 1q42-q44 deletion syndrome

OGS2 Gene

Opitz G syndrome, type II

This disorder, variously named the G, Opitz-G, or BBB syndrome, includes hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; and congenital heart defects.[supplied by OMIM, Jul 2002]

AMMECR1 Gene

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

TUKLS Gene

Tukel syndrome

CXDUPQ26.3 Gene

Chromosome Xq26.3 duplication syndrome

LOC729770 Gene

wiskott-Aldrich syndrome protein homolog

HBHR Gene

alpha-thalassemia/mental retardation syndrome, type 1

NMLFS Gene

Nablus mask-like facial syndrome

BMIQ16 Gene

Chromosome 16p11.2 deletion syndrome, 220kb

DELYQ11 Gene

Sertoli cell-only syndrome, Y-linked

DEL19P13.13 Gene

Chromosome 19p13.13 deletion syndrome

DEL3PTERP25 Gene

3p- syndrome

TRIP4Q32.1Q32.2 Gene

Chromosome 4q32.1-q32.2 triplication syndrome

DEL3Q13.31 Gene

Chromosome 3q13.31 deletion syndrome

DEL15Q25 Gene

Chromosome 15q25 deletion syndrome

SSB Gene

Sjogren syndrome antigen B (autoantigen La)

The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014]

DELXP21 Gene

Chromosome Xp21 deletion syndrome

DEL17Q12 Gene

Chromosome 17q12 deletion syndrome

EDS8 Gene

Ehlers-Danlos syndrome, type VIII

LOC102724426 Gene

Sjoegren syndrome nuclear autoantigen 1 homolog

DSCR8 Gene

Down syndrome critical region 8

DSCR3 Gene

Down syndrome critical region 3

The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]

MLSM7 Gene

Myelodysplasia and leukemia syndrome with monosomy 7

ALMS1 Gene

Alstrom syndrome protein 1

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]

TAM Gene

Myeloproliferative syndrome, transient (transient abnormal

WHCR Gene

Wolf-Hirschhorn syndrome chromosome region

Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008 [PubMed 18932224]).[supplied by OMIM, Nov 2010]

DEL2Q23.1 Gene

Chromosome 2q23.1 deletion syndrome

WHSC1L1 Gene

Wolf-Hirschhorn syndrome candidate 1-like 1

This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]

ATRX Gene

alpha thalassemia/mental retardation syndrome X-linked

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013]

DUP16P11.2 Gene

Chromosome 16p11.2 duplication syndrome

MMDFS Gene

Multiple mitochondrial dysfunctions syndrome

DEL8Q21.11 Gene

Chromosome 8q21.11 deletion syndrome

CDL2 Gene

Cornelia de Lange syndrome 2

DEL3Q29 Gene

Chromosome 3q29 microdeletion syndrome

AMMEC Gene

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

DGCR9 Gene

DiGeorge syndrome critical region gene 9 (non-protein coding)

DGCR2 Gene

DiGeorge syndrome critical region gene 2

Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

DGCR5 Gene

DiGeorge syndrome critical region gene 5 (non-protein coding)

DGCR7 Gene

DiGeorge syndrome critical region gene 7

DGCR6 Gene

DiGeorge syndrome critical region gene 6

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]

DEL9P Gene

Chromosome 9p deletion syndrome

LVSKS Gene

Levy-Shanske syndrome

ADFN Gene

albinism-deafness syndrome

DEL2Q32Q33 Gene

Chromosome 2q32-q33 deletion syndrome

CECR5 Gene

cat eye syndrome chromosome region, candidate 5

CECR9 Gene

cat eye syndrome chromosome region, candidate 9 (non-protein coding)

LOC101929941 Gene

neural Wiskott-Aldrich syndrome protein-like

RIEG2 Gene

Rieger syndrome 2

DEL1Q41Q42 Gene

Chromosome 1q41-q42 deletion syndrome

SBDS Gene

Shwachman-Bodian-Diamond syndrome

This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008]

PSS Gene

Potocki-Shaffer syndrome

OCRL Gene

oculocerebrorenal syndrome of Lowe

This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq, Jul 2008]

LOC100420893 Gene

Down syndrome critical region 3 pseudogene

PCOS1 Gene

polycystic ovary syndrome 1

WHSC1L2P Gene

Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene

DEL11P13 Gene

Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome

WBSCR27 Gene

Williams Beuren syndrome chromosome region 27

This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]

WBSCR28 Gene

Williams-Beuren syndrome chromosome region 28

DUP17Q23.1Q23.2 Gene

Chromosome 17q23.1-q23.2 duplication syndrome

FGS2 Gene

FG syndrome 2

FGS3 Gene

FG syndrome 3

HYLS1 Gene

hydrolethalus syndrome 1

This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]

EVC2 Gene

Ellis van Creveld syndrome 2

This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

ACF Gene

Asymmetric crying facies (Cayler cardiofacial syndrome)

DEL6Q24Q25 Gene

Chromosome 6q25-q25 deletion syndrome

MYSA Gene

myasthenic (Lambert-Eaton) syndrome antigen A

INDX Gene

Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury

SCLL Gene

Chromosome 8p11 myeloproliferative syndrome

ACLS Gene

acrocallosal syndrome

USHBP1 Gene

Usher syndrome 1C binding protein 1

LOC389465 Gene

Sjogren syndrome antigen B pseudogene

TEMPS Gene

Temple syndrome

GHS Gene

Goldenhar syndrome

KONDS Gene

Kondoh syndrome

NIPA2P3 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3

NIPA2P2 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2

NIPA2P1 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1

NIPA2P5 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5

NIPA2P4 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4

NHS Gene

Nance-Horan syndrome (congenital cataracts and dental anomalies)

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

MROS Gene

Melkersson-Rosenthal syndrome

CECR1 Gene

cat eye syndrome chromosome region, candidate 1

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

CECR2 Gene

cat eye syndrome chromosome region, candidate 2

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

CECR3 Gene

cat eye syndrome chromosome region, candidate 3 (non-protein coding)

CECR6 Gene

cat eye syndrome chromosome region, candidate 6

DELXQ28 Gene

Chromosome Xq28 microdeletion syndrome

APMR3 Gene

Alopecia-mental retardation syndrome 3

APMR2 Gene

Alopecia with mental retardation syndrome 2

APMR1 Gene

Alopecia-mental retardation syndrome

COHEN2 Gene

Cohen syndrome QTL 2

DUP2Q31.1 Gene

Chromosome 2q31.1 duplication syndrome

MKKS Gene

McKusick-Kaufman syndrome

This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

DEL22Q11.2 Gene

Chromosome 22q11.2 deletion syndrome, distal

USH2A Gene

Usher syndrome 2A (autosomal recessive, mild)

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

MDS2 Gene

myelodysplastic syndrome 2 translocation associated

DEL13Q14 Gene

Chromosome 13q14 deletion syndrome

DUP16P13.3 Gene

Chromosome 16p13.3 duplication syndrome

DEL6PTER Gene

Chromosome 6pter deletion syndrome

WRN Gene

Werner syndrome, RecQ helicase-like

This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008]

DUPXQ28 Gene

Chromosome Xq28 duplication syndrome

DEL2P12P11.2 Gene

Chromosome 2p12-p11.2 deletion syndrome

ARCODS Gene

Ariculocondylar syndrome

MKS1 Gene

Meckel syndrome, type 1

The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

DGCR Gene

DiGeorge syndrome chromosome region

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; MIM 192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see MIM 601362). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.[supplied by OMIM, Aug 2009]

LOC100421446 Gene

Wolf-Hirschhorn syndrome candidate 1-like 1 pseudogene

ANCR Gene

Angelman syndrome chromosome region

Angelman syndrome is characterized by mental retardation, movement or balance disorder, characteristic abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; MIM 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (MIM 608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) [PubMed 1619637] provided a review of Angelman syndrome. Cassidy and Schwartz (1998) [PubMed 9556704] reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) [PubMed 18627066] provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.[supplied by OMIM, Oct 2008]

DEL2Q31 Gene

Chromosome 2q31.2 deletion syndrome

RJBS Gene

Rajab syndrome

DEL16P12.1P11.2 Gene

Chromosome 16p12.2-p11.2 deletion syndrome

MDNS Gene

Mammary-digital-nail syndrome

DEL2P16.1-P15 Gene

Chromosome 2p16.1-p15 deletion syndrome

WBSCR17 Gene

Williams-Beuren syndrome chromosome region 17

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

DEL6Q11Q14 Gene

Chromosome 6q11-q14 deletion syndrome

WAS Gene

Wiskott-Aldrich syndrome

The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]

MEHMO Gene

mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome

MRXSA Gene

Armfield X-linked mental retardation syndrome

MRXSL Gene

Lubs X-linked mental retardation syndrome

RFMN Gene

Roifman syndrome

DUP22Q11.2 Gene

Chromosome 22q11.2 microduplication syndrome

DSCAM Gene

Down syndrome cell adhesion molecule

This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

CATMANS Gene

Catel-Manzke syndrome

ICR4 Gene

ichthyosis congenita IV, ichthyosis-prematurity syndrome

LRSL Gene

Larsen-like syndrome

DUP7Q11.23 Gene

Chromosome 7q11.23 duplication syndrome

MRXSBWB Gene

Brooks-Wisniewski-Brown syndrome

MBS1 Gene

Moebius syndrome 1

MBS2 Gene

Moebius syndrome 2

MBS3 Gene

Moebius syndrome 3

THAS Gene

thoracoabdominal syndrome

DEL16P13.3 Gene

Chromosome 16p13.3 deletion syndrome

DSCR9 Gene

Down syndrome critical region 9 (non-protein coding)

DSCR4 Gene

Down syndrome critical region 4

The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus. [provided by RefSeq, Jan 2015]

DEL17Q23.1Q23.2 Gene

Chromosome 17q23.1-q23.2 deletion syndrome

AIC Gene

Aicardi syndrome

DEL1P32P31 Gene

Chromosome 1p32-p31 deletion syndrome

DUPXQ27.3Q28 Gene

Chromosome Xq27.3-q28 duplication syndrome

DEL14Q11Q22 Gene

Chromosome 14q11-q22 deletion syndrome

MCS Gene

Miles-Carpenter X-linked mental retardation syndrome

SPPM Gene

scapuloperoneal syndrome, myopathic type

DUP17P13.3 Gene

Chromosome 17p13.3 duplication syndrome

SMCR8 Gene

Smith-Magenis syndrome chromosome region, candidate 8

SMCR2 Gene

Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding)

SMCR5 Gene

Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding)

SMCR6 Gene

Smith-Magenis syndrome chromosome region, candidate 6 (non-protein coding)

CECR7 Gene

cat eye syndrome chromosome region, candidate 7 (non-protein coding)

CYLD Gene

cylindromatosis (turban tumor syndrome)

This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

DEL2P21 Gene

Hypotonia-cystinuria syndrome

WAGRO Gene

WAGRO syndrome

OFD1 Gene

oral-facial-digital syndrome 1

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq, Jul 2008]

EDSS2 Gene

Ectodermal dysplasia-syndactyly syndrome 2

DELXP11.3 Gene

Chromosome Xp11.3 deletion syndrome

MRXSMP Gene

Martin-Probst deafness-mental retardation syndrome

MSD Gene

microcephaly with spastic diplegia (Paine syndrome)

PRS Gene

Prieto X-linked mental retardation syndrome

DUP17Q12 Gene

Chromosome 17q12 duplication syndrome

USH1K Gene

Usher syndrome 1K (autosomal recessive)

SPG38 Gene

spastic paraplegia 38 (autosomal dominant, Silver syndrome)

ALMS1P Gene

Alstrom syndrome 1 pseudogene

SBDSP1 Gene

Shwachman-Bodian-Diamond syndrome pseudogene 1

ACRPV Gene

Acropectorovertebral dysplasia (F syndrome)

ACRPS Gene

Acropectoral syndrome

PRBNS Gene

Pierre Robin syndrome

ZLS Gene

Zimmerman-Laband Syndrome

CCCSX Gene

Cerebral-cerebellar-coloboma syndrome, X-linked

WBSCR22 Gene

Williams Beuren syndrome chromosome region 22

This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]

WFS1 Gene

Wolfram syndrome 1 (wolframin)

This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

DUP3Q29 Gene

chromosome 3q29 microduplication syndrome

DUPXP11.23P11.22 Gene

Chromosome Xp11.23-p11.22 duplication syndrome

ASPG1 Gene

Asperger syndrome, susceptibility to, 1

DEL18P Gene

Chromosome 18p deletion syndrome

DEL18Q Gene

Chromosome 18q deletion syndrome

FRTS1 Gene

Fanconi renotubular syndrome

PTLS Gene

Potocki-Lupski syndrome

CECR Gene

cat eye syndrome chromosome region

Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]

FGS5 Gene

FG syndrome 5

IPW Gene

imprinted in Prader-Willi syndrome (non-protein coding)

This gene is non-protein coding, is expressed exclusively from the paternal allele, and may play a role in the imprinting process. Mutations in this gene are associated with Prader-Willi syndrome. [provided by RefSeq, May 2010]

DER22T11-22 Gene

Emanuel syndrome

DGCR11 Gene

DiGeorge syndrome critical region gene 11 (non-protein coding)

DGCR10 Gene

DiGeorge syndrome critical region gene 10 (non-protein coding)

DGCR12 Gene

DiGeorge syndrome critical region gene 12 (non-protein coding)

DGCR14 Gene

DiGeorge syndrome critical region gene 14

This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. [provided by RefSeq, Jul 2008]

DSCR10 Gene

Down syndrome critical region 10 (non-protein coding)

GTS Gene

Gilles de la Tourette syndrome

DEL15Q24 Gene

Chromosome 15q24 deletion syndrome

RCHTS Gene

Roifman-Chitayat syndrome

C16DELQ22 Gene

Chromosome 16q22 deletion syndrome

TRPS1 Gene

trichorhinophalangeal syndrome I

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

DEL15Q13.3 Gene

Chromosome 15q13.3 microdeletion syndrome

DWS Gene

dandy-walker syndrome

DUP1Q21 Gene

Chromosome 1q21.1 duplication syndrome

WBS2 Gene

Williams-Beuren syndrome type 2

WBSCR2 Gene

Williams-Beuren syndrome chromosome region 2

LFS3 Gene

Li-Fraumeni syndrome 3

ATD Gene

asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)

USH1H Gene

Usher syndrome 1H (autosomal recessive)

USH1C Gene

Usher syndrome 1C (autosomal recessive, severe)

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

USH1G Gene

Usher syndrome 1G (autosomal recessive)

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

USH1E Gene

Usher syndrome 1E (autosomal recessive, severe)

RSS Gene

Russell Silver syndrome

SCKL3 Gene

Seckel syndrome 3

WSN Gene

Waisman syndrome

RSCIS Gene

Radiation sensitivity/chromosome instability syndrome, autosomal dominant

DER22T8-22 Gene

Supernumerary der(22)t(8-22) syndrome

GUST Gene

Gustavson mental retardation syndrome (with microcephaly, optic

RLS3 Gene

Restless legs syndrome 3

RLS2 Gene

Restless legs syndrome 2

RLS1 Gene

Restless legs syndrome, susceptibility to

RLS7 Gene

Restless legs syndrome 7

RLS6 Gene

Restless legs syndrome, susceptibility to, 6

RLS5 Gene

Restless legs syndrome, susceptibility to, 5

RLS8 Gene

Restless legs syndrome, susceptibility to, 8

WASL Gene

Wiskott-Aldrich syndrome-like

This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]

BBS9 Gene

Bardet-Biedl syndrome 9

This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

BBS1 Gene

Bardet-Biedl syndrome 1

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

BBS2 Gene

Bardet-Biedl syndrome 2

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]

BBS5 Gene

Bardet-Biedl syndrome 5

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]

BBS4 Gene

Bardet-Biedl syndrome 4

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Oct 2014]

BBS7 Gene

Bardet-Biedl syndrome 7

This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]

NIPA2 Gene

non imprinted in Prader-Willi/Angelman syndrome 2

This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]

NIPA1 Gene

non imprinted in Prader-Willi/Angelman syndrome 1

This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]

LOC100500719 Gene

Hermansky-Pudlak syndrome 1 pseudogene

ATPLS Gene

antiphospholipid syndrome, familial

DEL1P36 Gene

Chromosome 1p36 deletion syndrome

DURS1 Gene

Duane retraction syndrome 1

VWSM Gene

Van der Woude syndrome modifier

DSCAML1 Gene

Down syndrome cell adhesion molecule like 1

LOC653588 Gene

Sjogren syndrome antigen B (autoantigen La) pseudogene

GTSCR1 Gene

Gilles de la Tourette syndrome chromosome region, candidate 1 (non-protein coding)

DEL17Q21.31 Gene

Microdeletion 17q21.31 syndrome

NS2 Gene

Noonan syndrome 2

RLS4 Gene

Restless legs syndrome 4

DEL7Q11.23 Gene

Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb

AOS Gene

Adams-Oliver syndrome

BBS10 Gene

Bardet-Biedl syndrome 10

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]

BBS12 Gene

Bardet-Biedl syndrome 12

The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

CFSS Gene

craniofacioskeletal syndrome

SSNA1 Gene

Sjogren syndrome nuclear autoantigen 1

DUP17Q21.31 Gene

Chromosome 17q21.31 duplication syndrome

BOS2 Gene

Branchiootic syndrome 2

DEL19Q13.11 Gene

Chromosome 19q13.11 deletion syndrome

LOC100533757 Gene

Sjogren syndrome antigen B (autoantigen La) pseudogene

DEL10Q26 Gene

Chromosome 10q deletion syndrome

WBSCR16 Gene

Williams-Beuren syndrome chromosome region 16

This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

OTDD Gene

Otodental dysplasia chromosome deletion syndrome

DEL17Q11.2 Gene

chromosome 17q11.2 deletion syndrome

DUP8Q22.1 Gene

Leri pleonosteosis chromosome duplication syndrome

EEC2 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

EEC1 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1

DEL4Q21 Gene

Chromosome 4q21 deletion syndrome

DUP22Q13 Gene

Chromosome 22q13 duplication syndrome

DGCR6L Gene

DiGeorge syndrome critical region gene 6-like

This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]

BLM Gene

Bloom syndrome, RecQ helicase-like

The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]

WTRS Gene

Wittwer syndrome

DEL17P13.1 Gene

Chromosome 17p13.1 deletion syndrome

KTWS Gene

Klippel-Trenaunay-Weber syndrome

DEL11P15P14 Gene

Chromosome 11p15-p14 deletion syndrome

DEL1Q21 Gene

Chromosome 1q21.1 deletion syndrome

DEL8Q12Q21 Gene

Bor-Duane hydrocephalus contiguous gene syndrome

SLSN3 Gene

Senior-Loken syndrome 3

BZX Gene

Bazex syndrome

ARVCF Gene

armadillo repeat gene deleted in velocardiofacial syndrome

Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]

HPS5 Gene

Hermansky-Pudlak syndrome 5

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

HPS4 Gene

Hermansky-Pudlak syndrome 4

This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

HPS6 Gene

Hermansky-Pudlak syndrome 6

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]

HPS1 Gene

Hermansky-Pudlak syndrome 1

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 a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008]

HPS3 Gene

Hermansky-Pudlak syndrome 3

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]

LCS1 Gene

lymphedema-cholestasis syndrome 1

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

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

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]

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]

GCRG224 Gene

gastric cancer-related gene GCRG224

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]

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)

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]

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

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]

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]

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]

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

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]

LOC101060399 Gene

cerebellar degeneration-related protein 2

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]

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]

MRGPRE Gene

MAS-related GPR, member E

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]

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]

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]

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]

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

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]

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

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

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

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

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]

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

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

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

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

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]

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

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

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]

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]