Name

GO Biological Process Annotations Dataset

From Gene Ontology

curated annotations of genes with biological processes

AOMS1 Gene

Abdominal obesity-metabolic syndrome QTL1

AOMS2 Gene

abdominal obesity-metabolic syndrome QTL2

LOC102724602 Gene

COMM domain-containing protein 6-like

NLRP14 Gene

NLR family, pyrin domain containing 14

The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]

KDELC1P1 Gene

KDEL (Lys-Asp-Glu-Leu) containing 1 pseudogene 1

LRRC37A10P Gene

leucine rich repeat containing 37, member A10, pseudogene

LOC105378955 Gene

tripartite motif-containing protein LOC642612

LOC102724971 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

LRRC27 Gene

leucine rich repeat containing 27

LRRC26 Gene

leucine rich repeat containing 26

LRRC24 Gene

leucine rich repeat containing 24

LRRC23 Gene

leucine rich repeat containing 23

LRRC20 Gene

leucine rich repeat containing 20

LRRC29 Gene

leucine rich repeat containing 29

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq, Jul 2008]

LRRC28 Gene

leucine rich repeat containing 28

CCDC178 Gene

coiled-coil domain containing 178

CCDC170 Gene

coiled-coil domain containing 170

The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]

CCDC172 Gene

coiled-coil domain containing 172

CCDC173 Gene

coiled-coil domain containing 173

CCDC174 Gene

coiled-coil domain containing 174

CCDC175 Gene

coiled-coil domain containing 175

CCDC176 Gene

coiled-coil domain containing 176

CCDC177 Gene

coiled-coil domain containing 177

LOC100420545 Gene

abhydrolase domain containing 15 pseudogene

LOC100420541 Gene

abhydrolase domain containing 15 pseudogene

RIIAD1 Gene

regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1

GGA1 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 1

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GGA3 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 3

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]

GGA2 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 2

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]

FHOD1 Gene

formin homology 2 domain containing 1

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

FHOD3 Gene

formin homology 2 domain containing 3

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

NACC2 Gene

NACC family member 2, BEN and BTB (POZ) domain containing

NACC1 Gene

nucleus accumbens associated 1, BEN and BTB (POZ) domain containing

This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]

LOC100288028 Gene

coiled-coil domain containing 59 pseudogene

MACROD2 Gene

MACRO domain containing 2

MACROD1 Gene

MACRO domain containing 1

SBSPON Gene

somatomedin B and thrombospondin, type 1 domain containing

LOC100419750 Gene

DTW domain containing 1 pseudogene

GPATCH2 Gene

G patch domain containing 2

TRIM75P Gene

tripartite motif containing 75, pseudogene

ANKFY1 Gene

ankyrin repeat and FYVE domain containing 1

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]

SRRD Gene

SRR1 domain containing

SORBS1 Gene

sorbin and SH3 domain containing 1

This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

SORBS3 Gene

sorbin and SH3 domain containing 3

This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

SORBS2 Gene

sorbin and SH3 domain containing 2

Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

ZSCAN5CP Gene

zinc finger and SCAN domain containing 5C, pseudogene

ZSWIM5P3 Gene

zinc finger, SWIM-type containing 5 pseudogene 3

ZSWIM5P2 Gene

zinc finger, SWIM-type containing 5 pseudogene 2

ZSWIM5P1 Gene

zinc finger, SWIM-type containing 5 pseudogene 1

CCDC70 Gene

coiled-coil domain containing 70

CCDC71 Gene

coiled-coil domain containing 71

CCDC78 Gene

coiled-coil domain containing 78

The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]

CCDC79 Gene

coiled-coil domain containing 79

TATDN2P1 Gene

TatD DNase domain containing 2 pseudogene 1

LOC100420353 Gene

tripartite motif containing 60 pseudogene

ZBTB7A Gene

zinc finger and BTB domain containing 7A

ZBTB7C Gene

zinc finger and BTB domain containing 7C

ZBTB7B Gene

zinc finger and BTB domain containing 7B

This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

PCNP Gene

PEST proteolytic signal containing nuclear protein

UTY Gene

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2012]

DENND2C Gene

DENN/MADD domain containing 2C

DENND2D Gene

DENN/MADD domain containing 2D

ZCCHC23 Gene

zinc finger, CCHC domain containing 23

ZCCHC24 Gene

zinc finger, CCHC domain containing 24

ANKS1B Gene

ankyrin repeat and sterile alpha motif domain containing 1B

This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]

ANKS1A Gene

ankyrin repeat and sterile alpha motif domain containing 1A

LOC100421259 Gene

zinc finger and BTB domain containing 14 pseudogene

ARMC10P1 Gene

armadillo repeat containing 10 pseudogene 1

SDAD1P1 Gene

SDA1 domain containing 1 pseudogene 1

SDAD1P2 Gene

SDA1 domain containing 1 pseudogene 2

SDAD1P3 Gene

SDA1 domain containing 1 pseudogene 3

CCDC162P Gene

coiled-coil domain containing 162, pseudogene

SAMD4A Gene

sterile alpha motif domain containing 4A

Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]

SAMD4B Gene

sterile alpha motif domain containing 4B

CDADC1 Gene

cytidine and dCMP deaminase domain containing 1

AOC2 Gene

amine oxidase, copper containing 2 (retina-specific)

Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

LOC100131429 Gene

armadillo repeat containing 1 pseudogene

ZDHHC3 Gene

zinc finger, DHHC-type containing 3

GLT8D2 Gene

glycosyltransferase 8 domain containing 2

GLT8D1 Gene

glycosyltransferase 8 domain containing 1

This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]

EXD3 Gene

exonuclease 3'-5' domain containing 3

EXD2 Gene

exonuclease 3'-5' domain containing 2

EXD1 Gene

exonuclease 3'-5' domain containing 1

SPRYD3 Gene

SPRY domain containing 3

SPRYD4 Gene

SPRY domain containing 4

SPRYD7 Gene

SPRY domain containing 7

KLHDC4 Gene

kelch domain containing 4

KLHDC2 Gene

kelch domain containing 2

KLHDC3 Gene

kelch domain containing 3

The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]

KLHDC1 Gene

kelch domain containing 1

TRIM51 Gene

tripartite motif-containing 51

HDDC2 Gene

HD domain containing 2

HDDC3 Gene

HD domain containing 3

TRIM53AP Gene

tripartite motif containing 53A, pseudogene

WWOX Gene

WW domain containing oxidoreductase

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

LOC340268 Gene

C3 and PZP-like, alpha-2-macroglobulin domain containing 8 pseudogene

OCIAD2P1 Gene

OCIA domain containing 2 pseudogene 1

LOC100996316 Gene

ankyrin repeat domain-containing protein 20A2-like

TMUB1 Gene

transmembrane and ubiquitin-like domain containing 1

TMUB2 Gene

transmembrane and ubiquitin-like domain containing 2

KCTD9P6 Gene

potassium channel tetramerization domain containing 9 pseudogene 6

RDM1 Gene

RAD52 motif containing 1

This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008]

LOC100130639 Gene

leucine rich repeat containing 3C pseudogene

PTCHD3P2 Gene

patched domain containing 3 pseudogene 2

PTCHD3P3 Gene

patched domain containing 3 pseudogene 3

PTCHD3P1 Gene

patched domain containing 3 pseudogene 1

LOC100422530 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

TCTEX1D2 Gene

Tctex1 domain containing 2

TCTEX1D1 Gene

Tctex1 domain containing 1

LDLRAD1 Gene

low density lipoprotein receptor class A domain containing 1

LDLRAD2 Gene

low density lipoprotein receptor class A domain containing 2

LDLRAD3 Gene

low density lipoprotein receptor class A domain containing 3

CCT4P2 Gene

chaperonin containing TCP1, subunit 4 (delta) pseudogene 2

KCTD13 Gene

potassium channel tetramerization domain containing 13

KCTD12 Gene

potassium channel tetramerization domain containing 12

KCTD10 Gene

potassium channel tetramerization domain containing 10

KCTD17 Gene

potassium channel tetramerization domain containing 17

KCTD16 Gene

potassium channel tetramerization domain containing 16

KCTD15 Gene

potassium channel tetramerization domain containing 15

KCTD14 Gene

potassium channel tetramerization domain containing 14

KCTD19 Gene

potassium channel tetramerization domain containing 19

KCTD18 Gene

potassium channel tetramerization domain containing 18

PCID2 Gene

PCI domain containing 2

PCID2 is expressed in immature and early-stage B lymphocytes and regulates expression of the mitotic checkpoint protein MAD2 (MAD2L1; MIM 601467) (Nakaya et al., 2010 [PubMed 20870947]).[supplied by OMIM, Jan 2011]

EFCC1 Gene

EF-hand and coiled-coil domain containing 1

LOC100420467 Gene

glyoxalase domain containing 4 pseudogene

LOC100420464 Gene

salvador family WW domain containing protein 1 pseudogene

PBLD Gene

phenazine biosynthesis-like protein domain containing

ANKDD1A Gene

ankyrin repeat and death domain containing 1A

ANKDD1B Gene

ankyrin repeat and death domain containing 1B

RTFDC1 Gene

replication termination factor 2 domain containing 1

PQLC3 Gene

PQ loop repeat containing 3

LRRC25 Gene

leucine rich repeat containing 25

ZMYND19P1 Gene

zinc finger, MYND-type containing 19 pseudogene 1

RFFL Gene

ring finger and FYVE-like domain containing E3 ubiquitin protein ligase

TRIM9 Gene

tripartite motif containing 9

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

TRIM8 Gene

tripartite motif containing 8

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to nuclear bodies. Its structure is similar to some tumor suppressor proteins and its gene maps to a locus thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008]

TRIM3 Gene

tripartite motif containing 3

The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic filaments. It is similar to a rat protein which is a specific partner for the tail domain of myosin V, a class of myosins which are involved in the targeted transport of organelles. The rat protein can also interact with alpha-actinin-4. Thus it is suggested that this human protein may play a role in myosin V-mediated cargo transport. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

TRIM2 Gene

tripartite motif containing 2

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

TRIM5 Gene

tripartite motif containing 5

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein forms homo-oligomers via the coilel-coil region and localizes to cytoplasmic bodies. It appears to function as a E3 ubiquitin-ligase and ubiqutinates itself to regulate its subcellular localization. It may play a role in retroviral restriction. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2009]

TRIM4 Gene

tripartite motif containing 4

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternatively spliced transcript variants that encode different isoforms have been described.[provided by RefSeq, Jul 2010]

TRIM7 Gene

tripartite motif containing 7

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

TRIM6 Gene

tripartite motif containing 6

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010]

LOC153893 Gene

DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) pseudogene

CCDC171 Gene

coiled-coil domain containing 171

SH2D1B Gene

SH2 domain containing 1B

By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]

SH2D1A Gene

SH2 domain containing 1A

This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LRRC37A2 Gene

leucine rich repeat containing 37, member A2

LRRC37A3 Gene

leucine rich repeat containing 37, member A3

CSDC2 Gene

cold shock domain containing C2, RNA binding

LOC100420547 Gene

GTF2I repeat domain containing 1 pseudogene

LYPD4 Gene

LY6/PLAUR domain containing 4

LYPD5 Gene

LY6/PLAUR domain containing 5

LYPD2 Gene

LY6/PLAUR domain containing 2

LYPD3 Gene

LY6/PLAUR domain containing 3

LYPD1 Gene

LY6/PLAUR domain containing 1

LYPD8 Gene

LY6/PLAUR domain containing 8

FSD1L Gene

fibronectin type III and SPRY domain containing 1-like

LOC101928879 Gene

COMM domain-containing protein 5-like

LOC730076 Gene

zinc finger domain containing pseudogene

CISH Gene

cytokine inducible SH2-containing protein

The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

GTF2IRD1P1 Gene

GTF2I repeat domain containing 1 pseudogene 1

RGAG4 Gene

retrotransposon gag domain containing 4

RGAG1 Gene

retrotransposon gag domain containing 1

EEPD1 Gene

endonuclease/exonuclease/phosphatase family domain containing 1

SOSTDC1 Gene

sclerostin domain containing 1

This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008]

LOC100132154 Gene

putative ankyrin repeat domain-containing protein 30B-like

KRIT1 Gene

KRIT1, ankyrin repeat containing

This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

TRABD2A Gene

TraB domain containing 2A

TRABD2B Gene

TraB domain containing 2B

CDPF1 Gene

cysteine-rich, DPF motif domain containing 1

LOC100507606 Gene

ankyrin repeat domain-containing protein 33B-like

WWP2 Gene

WW domain containing E3 ubiquitin protein ligase 2

This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. 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 10. [provided by RefSeq, Jul 2012]

WWP1 Gene

WW domain containing E3 ubiquitin protein ligase 1

WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]

ACRC Gene

acidic repeat containing

GATAD1 Gene

GATA zinc finger domain containing 1

The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

LOC105371804 Gene

leucine-rich repeat-containing protein 37A3 pseudogene

LOC105379252 Gene

coiled-coil domain-containing protein 29-like

KLHDC8A Gene

kelch domain containing 8A

This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

RLTPR Gene

RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing

UBAC2 Gene

UBA domain containing 2

UBAC1 Gene

UBA domain containing 1

LOC100533670 Gene

tripartite motif containing 60 pseudogene

LOC100533677 Gene

coiled-coil domain containing 176 pseudogene

RHBDD2 Gene

rhomboid domain containing 2

RHBDD3 Gene

rhomboid domain containing 3

RHBDD1 Gene

rhomboid domain containing 1

CHCHD2 Gene

coiled-coil-helix-coiled-coil-helix domain containing 2

CHCHD3 Gene

coiled-coil-helix-coiled-coil-helix domain containing 3

CHCHD6 Gene

coiled-coil-helix-coiled-coil-helix domain containing 6

CHCHD7 Gene

coiled-coil-helix-coiled-coil-helix domain containing 7

CHCHD4 Gene

coiled-coil-helix-coiled-coil-helix domain containing 4

CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]

CHCHD5 Gene

coiled-coil-helix-coiled-coil-helix domain containing 5

TMTC2 Gene

transmembrane and tetratricopeptide repeat containing 2

LOC387770 Gene

tripartite motif containing 49D1 pseudogene

XIRP1 Gene

xin actin binding repeat containing 1

XIRP2 Gene

xin actin binding repeat containing 2

SPHKAP Gene

SPHK1 interactor, AKAP domain containing

CRADD Gene

CASP2 and RIPK1 domain containing adaptor with death domain

The protein encoded by this gene is a death domain (CARD/DD)-containing protein and has been shown to induce cell apoptosis. Through its CARD domain, this protein interacts with, and thus recruits, caspase 2/ICH1 to the cell death signal transduction complex that includes tumor necrosis factor receptor 1 (TNFR1A), RIPK1/RIP kinase, and numbers of other CARD domain-containing proteins. [provided by RefSeq, Jul 2008]

IQCA1 Gene

IQ motif containing with AAA domain 1

The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

LYRM5 Gene

LYR motif containing 5

GDPD2 Gene

glycerophosphodiester phosphodiesterase domain containing 2

This gene encodes a member of the glycerophosphodiester phosphodiesterase enzyme family. The encoded protein hydrolyzes glycerophosphoinositol to produce inositol 1-phosphate and glycerol. This protein may have a role in osteoblast differentiation and growth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

GDPD3 Gene

glycerophosphodiester phosphodiesterase domain containing 3

GDPD4 Gene

glycerophosphodiester phosphodiesterase domain containing 4

GDPD5 Gene

glycerophosphodiester phosphodiesterase domain containing 5

Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010]

ROCK1 Gene

Rho-associated, coiled-coil containing protein kinase 1

This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. [provided by RefSeq, Jul 2008]

ROCK2 Gene

Rho-associated, coiled-coil containing protein kinase 2

The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]

LRRC9 Gene

leucine rich repeat containing 9

LRRC4 Gene

leucine rich repeat containing 4

This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]

LRRC6 Gene

leucine rich repeat containing 6

The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Dec 2012]

LRRC7 Gene

leucine rich repeat containing 7

LRRC1 Gene

leucine rich repeat containing 1

LRRC3 Gene

leucine rich repeat containing 3

MORN5 Gene

MORN repeat containing 5

MORN4 Gene

MORN repeat containing 4

MORN1 Gene

MORN repeat containing 1

LOC100130574 Gene

thiosulfate sulfurtransferase (rhodanese)-like domain containing 1 pseudogene

LOC100130571 Gene

coiled-coil domain containing 107 pseudogene

HACE1 Gene

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

PCED1CP Gene

PC-esterase domain containing 1C, pseudogene

NT5DC4 Gene

5'-nucleotidase domain containing 4

NT5DC2 Gene

5'-nucleotidase domain containing 2

NT5DC1 Gene

5'-nucleotidase domain containing 1

While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]

RUSC2 Gene

RUN and SH3 domain containing 2

This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]

RUSC1 Gene

RUN and SH3 domain containing 1

LZIC Gene

leucine zipper and CTNNBIP1 domain containing

TRIM60P7Y Gene

tripartite motif containing 60 pseudogene 7, Y-linked

BEND3P3 Gene

BEN domain containing 3 pseudogene 3

BEND3P2 Gene

BEN domain containing 3 pseudogene 2

KBTBD7 Gene

kelch repeat and BTB (POZ) domain containing 7

KBTBD4 Gene

kelch repeat and BTB (POZ) domain containing 4

KBTBD3 Gene

kelch repeat and BTB (POZ) domain containing 3

KBTBD2 Gene

kelch repeat and BTB (POZ) domain containing 2

KBTBD8 Gene

kelch repeat and BTB (POZ) domain containing 8

FMO9P Gene

flavin containing monooxygenase 9 pseudogene

ZC3H12A Gene

zinc finger CCCH-type containing 12A

ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 2008]

ZC3H12B Gene

zinc finger CCCH-type containing 12B

The protein encoded by this gene belongs to a family of CCCH-type zinc finger proteins that are involved in the proinflammatory activation of macrophages. The exact function of this family member is unknown, but it is thought to function as a ribonuclease. [provided by RefSeq, May 2010]

ZC3H12C Gene

zinc finger CCCH-type containing 12C

ZC3H12D Gene

zinc finger CCCH-type containing 12D

LOC102725078 Gene

ankyrin repeat domain-containing protein 20A2-like

LOC102725070 Gene

coiled-coil domain-containing protein 29-like

ZFYVE21 Gene

zinc finger, FYVE domain containing 21

LOC100507561 Gene

ankyrin repeat domain-containing protein 33B-like

RWDD2A Gene

RWD domain containing 2A

RWDD2B Gene

RWD domain containing 2B

UBALD1 Gene

UBA-like domain containing 1

UBALD2 Gene

UBA-like domain containing 2

BTRCP1 Gene

beta-transducin repeat containing E3 ubiquitin protein ligase pseudogene 1

BROX Gene

BRO1 domain and CAAX motif containing

NRDE2 Gene

NRDE-2, necessary for RNA interference, domain containing

ZAK Gene

sterile alpha motif and leucine zipper containing kinase AZK

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

LOC645626 Gene

coiled-coil domain containing 29-like

SPTY2D1 Gene

SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)

CASD1 Gene

CAS1 domain containing 1

VSTM5 Gene

V-set and transmembrane domain containing 5

VSTM4 Gene

V-set and transmembrane domain containing 4

VSTM1 Gene

V-set and transmembrane domain containing 1

TRIM43CP Gene

tripartite motif containing 43C, pseudogene

LOC100288211 Gene

PPPDE peptidase domain containing 1 pseudogene

ZBTB45P2 Gene

zinc finger and BTB domain containing 45 pseudogene 2

ZBTB45P1 Gene

zinc finger and BTB domain containing 45 pseudogene 1

HERC1 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]

HERC3 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 3

This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

HERC2 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 2

This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]

HERC5 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 5

This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Jul 2008]

HERC4 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 4

HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

HERC6 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase family member 6

HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

TBCCD1 Gene

TBCC domain containing 1

PLEKHF1 Gene

pleckstrin homology domain containing, family F (with FYVE domain) member 1

PLEKHF2 Gene

pleckstrin homology domain containing, family F (with FYVE domain) member 2

ANKMY1 Gene

ankyrin repeat and MYND domain containing 1

ANKMY2 Gene

ankyrin repeat and MYND domain containing 2

LOC101060632 Gene

putative ankyrin repeat domain-containing protein 20A12 pseudogene

SAMD5 Gene

sterile alpha motif domain containing 5

SAMD7 Gene

sterile alpha motif domain containing 7

SAMD1 Gene

sterile alpha motif domain containing 1

SAMD3 Gene

sterile alpha motif domain containing 3

SAMD8 Gene

sterile alpha motif domain containing 8

SAMD9 Gene

sterile alpha motif domain containing 9

This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]

LRRC18 Gene

leucine rich repeat containing 18

LRRC19 Gene

leucine rich repeat containing 19

LRRC17 Gene

leucine rich repeat containing 17

LRRC14 Gene

leucine rich repeat containing 14

This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

LRRC15 Gene

leucine rich repeat containing 15

LRRC10 Gene

leucine rich repeat containing 10

CCDC101 Gene

coiled-coil domain containing 101

CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]

FAHD2B Gene

fumarylacetoacetate hydrolase domain containing 2B

FAHD2A Gene

fumarylacetoacetate hydrolase domain containing 2A

CCDC105 Gene

coiled-coil domain containing 105

CCDC107 Gene

coiled-coil domain containing 107

This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

CCDC106 Gene

coiled-coil domain containing 106

CCDC108 Gene

coiled-coil domain containing 108

PEF1 Gene

penta-EF-hand domain containing 1

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]

AARD Gene

alanine and arginine rich domain containing protein

LOC100422352 Gene

transmembrane and tetratricopeptide repeat containing 1 pseudogene

FAHD1 Gene

fumarylacetoacetate hydrolase domain containing 1

ILDR2 Gene

immunoglobulin-like domain containing receptor 2

ILDR1 Gene

immunoglobulin-like domain containing receptor 1

This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

PDDC1 Gene

Parkinson disease 7 domain containing 1

TRIM60P16 Gene

tripartite motif containing 60 pseudogene 16

TRIM60P17 Gene

tripartite motif containing 60 pseudogene 17

TRIM60P18 Gene

tripartite motif containing 60 pseudogene 18

TRIM60P19 Gene

tripartite motif containing 60 pseudogene 19

LOC100130049 Gene

ribosomal L1 domain-containing protein 1-like

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]

CRISPLD2 Gene

cysteine-rich secretory protein LCCL domain containing 2

CRISPLD1 Gene

cysteine-rich secretory protein LCCL domain containing 1

MDGA1 Gene

MAM domain containing glycosylphosphatidylinositol anchor 1

MDGA2 Gene

MAM domain containing glycosylphosphatidylinositol anchor 2

DDRGK1 Gene

DDRGK domain containing 1

MFSD10 Gene

major facilitator superfamily domain containing 10

This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

PRDM5 Gene

PR domain containing 5

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]

KHDC1 Gene

KH homology domain containing 1

DALRD3 Gene

DALR anticodon binding domain containing 3

The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013]

INF2 Gene

inverted formin, FH2 and WH2 domain containing

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

CHCHD10 Gene

coiled-coil-helix-coiled-coil-helix domain containing 10

This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]

CNTD1 Gene

cyclin N-terminal domain containing 1

CNTD2 Gene

cyclin N-terminal domain containing 2

DCDC2B Gene

doublecortin domain containing 2B

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. [provided by RefSeq, Sep 2010]

DCDC2C Gene

doublecortin domain containing 2C

PRDM9 Gene

PR domain containing 9

The PR domain is a protein-protein interaction module of about 100 amino acids. PR domain-containing proteins, such as PRDM9, are often involved in transcriptional regulation (Jiang and Huang, 2000 [PubMed 10668202]).[supplied by OMIM, Mar 2008]

LOC100128795 Gene

coiled-coil domain-containing protein 144A-like

BTBD7P1 Gene

BTB (POZ) domain containing 7 pseudogene 1

PDZRN4 Gene

PDZ domain containing ring finger 4

PDZRN3 Gene

PDZ domain containing ring finger 3

This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

LOC388955 Gene

PRELI domain-containing protein 1, mitochondrial pseudogene

DENND1C Gene

DENN/MADD domain containing 1C

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1C, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

DENND1B Gene

DENN/MADD domain containing 1B

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

DENND1A Gene

DENN/MADD domain containing 1A

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

ZCCHC12 Gene

zinc finger, CCHC domain containing 12

ZCCHC11 Gene

zinc finger, CCHC domain containing 11

ZCCHC11 is an RNA uridyltransferase (EC 2.7.7.52) that uses UTP to add uridines to the 3-prime end of substrate RNA molecules (Jones et al., 2009 [PubMed 19701194]).[supplied by OMIM, Jan 2011]

ZCCHC10 Gene

zinc finger, CCHC domain containing 10

ZCCHC17 Gene

zinc finger, CCHC domain containing 17

ZCCHC16 Gene

zinc finger, CCHC domain containing 16

ZCCHC14 Gene

zinc finger, CCHC domain containing 14

ZCCHC18 Gene

zinc finger, CCHC domain containing 18

ANKS4B Gene

ankyrin repeat and sterile alpha motif domain containing 4B

IMPAD1 Gene

inositol monophosphatase domain containing 1

This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]

LOC100129224 Gene

ankyrin repeat domain-containing protein SOWAHC-like

CENPBD1 Gene

CENPB DNA-binding domains containing 1

TRIM51EP Gene

tripartite motif-containing 51E, pseudogene

CHCHD2P10 Gene

coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 10

CCDC77 Gene

coiled-coil domain containing 77

CCDC73 Gene

coiled-coil domain containing 73

LOC440180 Gene

zinc finger, CCHC domain containing 7 pseudogene

IGSF6-DREV1 Gene

region containing immunoglobulin superfamily, member 6 and DREV1

THAP1 Gene

THAP domain containing, apoptosis associated protein 1

The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

SNW1 Gene

SNW domain containing 1

This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. [provided by RefSeq, Jul 2008]

OCIAD2 Gene

OCIA domain containing 2

OCIAD1 Gene

OCIA domain containing 1

TRIM78P Gene

tripartite motif containing 78, pseudogene

LOC283028 Gene

putative SCAN domain-containing protein SCAND2P

ABHD12B Gene

abhydrolase domain containing 12B

ZDHHC20 Gene

zinc finger, DHHC-type containing 20

ZDHHC21 Gene

zinc finger, DHHC-type containing 21

ZDHHC22 Gene

zinc finger, DHHC-type containing 22

ZDHHC23 Gene

zinc finger, DHHC-type containing 23

ZDHHC24 Gene

zinc finger, DHHC-type containing 24

VWA8 Gene

von Willebrand factor A domain containing 8

VWA7 Gene

von Willebrand factor A domain containing 7

VWA2 Gene

von Willebrand factor A domain containing 2

This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]

VWA1 Gene

von Willebrand factor A domain containing 1

VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]

ISLR Gene

immunoglobulin superfamily containing leucine-rich repeat

TYSND1 Gene

trypsin domain containing 1

This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]

TCEANC2 Gene

transcription elongation factor A (SII) N-terminal and central domain containing 2

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]

VWA3B Gene

von Willebrand factor A domain containing 3B

VWA3A Gene

von Willebrand factor A domain containing 3A

PLEKHN1 Gene

pleckstrin homology domain containing, family N member 1

ZC3HC1 Gene

zinc finger, C3HC-type containing 1

This gene encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division. The G2/M transition in the cell cycle requires the interaction of the proteins cyclin B1 and cyclin-dependent kinase 1. The activated ubiquitin ligase complex targets the protein cyclin B1 for degradation, preventing this transition to mitosis. [provided by RefSeq, Aug 2013]

FOXRED2 Gene

FAD-dependent oxidoreductase domain containing 2

FOXRED1 Gene

FAD-dependent oxidoreductase domain containing 1

This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

LOC100129589 Gene

TM2 domain containing 3 pseudogene

MBTD1 Gene

mbt domain containing 1

CCDC179 Gene

coiled-coil domain containing 179

CCDC181 Gene

coiled-coil domain containing 181

CCDC180 Gene

coiled-coil domain containing 180

CCDC183 Gene

coiled-coil domain containing 183

CCDC182 Gene

coiled-coil domain containing 182

CCDC185 Gene

coiled-coil domain containing 185

CCDC184 Gene

coiled-coil domain containing 184

CCDC186 Gene

coiled-coil domain containing 186

DDHD2 Gene

DDHD domain containing 2

This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

LOC100420514 Gene

coiled-coil domain containing 86 pseudogene

LOC100421197 Gene

zinc finger and BTB domain containing 10 pseudogene

LOC101929135 Gene

RWD domain-containing protein 2B pseudogene

ANKFN1 Gene

ankyrin-repeat and fibronectin type III domain containing 1

TECPR1 Gene

tectonin beta-propeller repeat containing 1

This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]

TECPR2 Gene

tectonin beta-propeller repeat containing 2

CLDND1 Gene

claudin domain containing 1

CLDND2 Gene

claudin domain containing 2

BAHCC1 Gene

BAH domain and coiled-coil containing 1

DENND2A Gene

DENN/MADD domain containing 2A

WWC2 Gene

WW and C2 domain containing 2

C2CD4A Gene

C2 calcium-dependent domain containing 4A

C2CD4B Gene

C2 calcium-dependent domain containing 4B

C2CD4C Gene

C2 calcium-dependent domain containing 4C

C2CD4D Gene

C2 calcium-dependent domain containing 4D

LOC100422094 Gene

potassium channel tetramerization domain containing 5 pseudogene

ZC3H6 Gene

zinc finger CCCH-type containing 6

TMBIM6 Gene

transmembrane BAX inhibitor motif containing 6

TMBIM4 Gene

transmembrane BAX inhibitor motif containing 4

TMBIM1 Gene

transmembrane BAX inhibitor motif containing 1

MSANTD2P1 Gene

Myb/SANT-like DNA-binding domain containing 2 pseudogene 1

LOC100862682 Gene

nucleus accumbens associated 1, BEN and BTB (POZ) domain containing pseudogene

PLEKHA3P1 Gene

pleckstrin homology domain containing, family A member 3 pseudogene 1

CCDC23 Gene

coiled-coil domain containing 23

CCDC22 Gene

coiled-coil domain containing 22

This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]

CCDC25 Gene

coiled-coil domain containing 25

CCDC24 Gene

coiled-coil domain containing 24

CCDC27 Gene

coiled-coil domain containing 27

KCTD20 Gene

potassium channel tetramerization domain containing 20

KCTD21 Gene

potassium channel tetramerization domain containing 21

LOC102725104 Gene

coiled-coil domain-containing protein 29-like

LOC100131689 Gene

pumilio domain-containing protein KIAA0020-like

TRIM59 Gene

tripartite motif containing 59

TRIM58 Gene

tripartite motif containing 58

TRIM55 Gene

tripartite motif containing 55

The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

TRIM54 Gene

tripartite motif containing 54

The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

TRIM56 Gene

tripartite motif containing 56

TRIM50 Gene

tripartite motif containing 50

TRIM52 Gene

tripartite motif containing 52

LOC100131849 Gene

coiled-coil domain containing 53 pseudogene

MAMLD1 Gene

mastermind-like domain containing 1

This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

LOC105371788 Gene

leucine-rich repeat-containing protein 37B-like

SARM1 Gene

sterile alpha and TIR motif containing 1

KLHDC10 Gene

kelch domain containing 10

CHURC1 Gene

churchill domain containing 1

COMMD10 Gene

COMM domain containing 10

ZDHHC20P3 Gene

zinc finger, DHHC-type containing 20 pseudogene 3

SH2D4A Gene

SH2 domain containing 4A

SH2D4B Gene

SH2 domain containing 4B

TMED7 Gene

transmembrane emp24 protein transport domain containing 7

TMED6 Gene

transmembrane emp24 protein transport domain containing 6

TMED5 Gene

transmembrane emp24 protein transport domain containing 5

TMED4 Gene

transmembrane emp24 protein transport domain containing 4

TMED3 Gene

transmembrane emp24 protein transport domain containing 3

TMED1 Gene

transmembrane emp24 protein transport domain containing 1

This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

TMED9 Gene

transmembrane emp24 protein transport domain containing 9

TMED8 Gene

transmembrane emp24 protein transport domain containing 8

EGFEM1P Gene

EGF-like and EMI domain containing 1, pseudogene

LOC100419574 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 2 pseudogene

HKDC1 Gene

hexokinase domain containing 1

MFSD11 Gene

major facilitator superfamily domain containing 11

MFSD12 Gene

major facilitator superfamily domain containing 12

LOC100379236 Gene

patatin-like phospholipase domain containing 4 pseudogene 1

ATAD5 Gene

ATPase family, AAA domain containing 5

ATAD1 Gene

ATPase family, AAA domain containing 1

ATAD2 Gene

ATPase family, AAA domain containing 2

A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]

ELMSAN1 Gene

ELM2 and Myb/SANT-like domain containing 1

AKNAD1 Gene

AKNA domain containing 1

This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

CARKD Gene

carbohydrate kinase domain containing

NIPAL1 Gene

NIPA-like domain containing 1

NIPAL2 Gene

NIPA-like domain containing 2

NIPAL3 Gene

NIPA-like domain containing 3

NIPAL4 Gene

NIPA-like domain containing 4

This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]

YRDC Gene

yrdC N(6)-threonylcarbamoyltransferase domain containing

CHID1 Gene

chitinase domain containing 1

AHCTF1 Gene

AT hook containing transcription factor 1

KXD1 Gene

KxDL motif containing 1

ABTB1 Gene

ankyrin repeat and BTB (POZ) domain containing 1

This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]

ABTB2 Gene

ankyrin repeat and BTB (POZ) domain containing 2

PNPLA4P1 Gene

patatin-like phospholipase domain containing 4 pseudogene 1

SAPCD2P4 Gene

suppressor APC domain containing 2 pseudogene 4

SAPCD2P1 Gene

suppressor APC domain containing 2 pseudogene 1

SAPCD2P3 Gene

suppressor APC domain containing 2 pseudogene 3

SAPCD2P2 Gene

suppressor APC domain containing 2 pseudogene 2

LOC105379197 Gene

pleckstrin homology domain-containing family A member 7-like

GLT1D1 Gene

glycosyltransferase 1 domain containing 1

TDRD12 Gene

tudor domain containing 12

TDRD10 Gene

tudor domain containing 10

TDRD15 Gene

tudor domain containing 15

BRD7P1 Gene

bromodomain containing 7 pseudogene 1

BRD7P3 Gene

bromodomain containing 7 pseudogene 3

BRD7P2 Gene

bromodomain containing 7 pseudogene 2

BRD7P5 Gene

bromodomain containing 7 pseudogene 5

BRD7P4 Gene

bromodomain containing 7 pseudogene 4

BRD7P6 Gene

bromodomain containing 7 pseudogene 6

RBCK1 Gene

RanBP-type and C3HC4-type zinc finger containing 1

The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]

LOC101930027 Gene

FERM and PDZ domain-containing protein 2-like

MPND Gene

MPN domain containing

PDZK1P1 Gene

PDZ domain containing 1 pseudogene 1

BRWD3 Gene

bromodomain and WD repeat domain containing 3

The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene cause mental retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, May 2010]

BRWD1 Gene

bromodomain and WD repeat domain containing 1

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]

PDXDC1 Gene

pyridoxal-dependent decarboxylase domain containing 1

BPIFB3 Gene

BPI fold containing family B, member 3

BPIFB2 Gene

BPI fold containing family B, member 2

This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008]

BPIFB1 Gene

BPI fold containing family B, member 1

The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008]

BPIFB6 Gene

BPI fold containing family B, member 6

BPIFB4 Gene

BPI fold containing family B, member 4

ZSCAN18 Gene

zinc finger and SCAN domain containing 18

ZSCAN10 Gene

zinc finger and SCAN domain containing 10

ZSCAN12 Gene

zinc finger and SCAN domain containing 12

ZSCAN16 Gene

zinc finger and SCAN domain containing 16

LOC100130075 Gene

SUZ RNA binding domain containing 1 pseudogene

NMRAL1 Gene

NmrA-like family domain containing 1

This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

LRRC37A4P Gene

leucine rich repeat containing 37, member A4, pseudogene

CCT8P1 Gene

chaperonin containing TCP1, subunit 8 (theta) pseudogene 1

LRRIQ3 Gene

leucine-rich repeats and IQ motif containing 3

LOC100420418 Gene

tripartite motif containing 60 pseudogene

IQCA1L Gene

IQ motif containing with AAA domain 1 like

ZBTB8A Gene

zinc finger and BTB domain containing 8A

ZBTB8B Gene

zinc finger and BTB domain containing 8B

LOC643067 Gene

HORMA domain containing 1 pseudogene

DDHD1 Gene

DDHD domain containing 1

FHDC1 Gene

FH2 domain containing 1

LOC101059997 Gene

alpha/beta hydrolase domain-containing protein 17A-like

ZMIZ2 Gene

zinc finger, MIZ-type containing 2

ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM, May 2010]

ZMIZ1 Gene

zinc finger, MIZ-type containing 1

This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]

CCDC58P1 Gene

coiled-coil domain containing 58 pseudogene 1

RCBTB2P1 Gene

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 pseudogene 1

SDAD1P4 Gene

SDA1 domain containing 1 pseudogene 4

GLOD5 Gene

glyoxalase domain containing 5

This gene encodes a protein with a glyoxalase domain. [provided by RefSeq, Sep 2011]

GLOD4 Gene

glyoxalase domain containing 4

ZBED4 Gene

zinc finger, BED-type containing 4

SCFD1 Gene

sec1 family domain containing 1

SCFD2 Gene

sec1 family domain containing 2

BHMG1 Gene

basic helix-loop-helix and HMG box domain containing 1

LOC100128983 Gene

mbt domain containing 1 pseudogene

LOC729722 Gene

ankyrin repeat domain-containing protein ENSP00000383090-like

TRIM43B Gene

tripartite motif containing 43B

This gene encodes a member of a family of proteins containing RING-finger, SPRY, and BBC domains. There is no definitive support for transcription of this locus, and the transcript structure is inferred from other family members. [provided by RefSeq, Oct 2009]

CCDC74B Gene

coiled-coil domain containing 74B

LOC644249 Gene

coiled-coil domain-containing protein 29-like

ASB9P1 Gene

ankyrin repeat and SOCS box containing 9 pseudogene 1

AARSD1 Gene

alanyl-tRNA synthetase domain containing 1

WDYHV1 Gene

WDYHV motif containing 1

AAMDC Gene

adipogenesis associated, Mth938 domain containing

BRCC3P1 Gene

BRCA1/BRCA2-containing complex, subunit 3 pseudogene 1

GATAD2A Gene

GATA zinc finger domain containing 2A

THAP5P2 Gene

THAP domain containing 5 pseudogene 2

THAP5P1 Gene

THAP domain containing 5 pseudogene 1

PIH1D2 Gene

PIH1 domain containing 2

PIH1D3 Gene

PIH1 domain containing 3

PIH1D1 Gene

PIH1 domain containing 1

LOC102724207 Gene

ankyrin repeat domain-containing protein 36C-like

ZDHHC11B Gene

zinc finger, DHHC-type containing 11B

MAMDC4 Gene

MAM domain containing 4

MAMDC2 Gene

MAM domain containing 2

BPIFB9P Gene

BPI fold containing family B, member 9, pseudogene

SYNE1 Gene

spectrin repeat containing, nuclear envelope 1

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

SYNE2 Gene

spectrin repeat containing, nuclear envelope 2

The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

SYNE3 Gene

spectrin repeat containing, nuclear envelope family member 3

SYNE4 Gene

spectrin repeat containing, nuclear envelope family member 4

LOC100132025 Gene

transmembrane domain-containing protein ENSP00000320207-like

LOC101060391 Gene

zinc finger CCCH domain-containing protein 18-like

HEATR5A Gene

HEAT repeat containing 5A

HEATR5B Gene

HEAT repeat containing 5B

LETM2 Gene

leucine zipper-EF-hand containing transmembrane protein 2

LOC100421674 Gene

kelch repeat and BTB (POZ) domain containing 2 pseudogene

PLBD2 Gene

phospholipase B domain containing 2

PLBD1 Gene

phospholipase B domain containing 1

PTAR1 Gene

protein prenyltransferase alpha subunit repeat containing 1

YEATS2 Gene

YEATS domain containing 2

YEATS2 is a scaffolding subunit of the ADA2A (TADA2A; MIM 602276)-containing (ATAC) histone acetyltransferase complex (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]

TRIM60P2Y Gene

tripartite motif containing 60 pseudogene 2, Y-linked

TCEANC Gene

transcription elongation factor A (SII) N-terminal and central domain containing

CNPPD1 Gene

cyclin Pas1/PHO80 domain containing 1

CMC1 Gene

C-x(9)-C motif containing 1

CMC2 Gene

C-x(9)-C motif containing 2

CMC4 Gene

C-x(9)-C motif containing 4

This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the downstream 8 kDa protein that localizes to mitochondria.[provided by RefSeq, Mar 2009]

LOC100421537 Gene

inositol monophosphatase domain containing 1 pseudogene

PRDM4 Gene

PR domain containing 4

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008]

SLURP1 Gene

secreted LY6/PLAUR domain containing 1

The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]

RSL1D1 Gene

ribosomal L1 domain containing 1

LOC727896 Gene

cysteine and histidine-rich domain (CHORD) containing 1 pseudogene

NLRC4 Gene

NLR family, CARD domain containing 4

This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

NLRC5 Gene

NLR family, CARD domain containing 5

This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]

NLRC3 Gene

NLR family, CARD domain containing 3

This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

DYDC2 Gene

DPY30 domain containing 2

This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

DYDC1 Gene

DPY30 domain containing 1

This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

AHDC1 Gene

AT hook, DNA binding motif, containing 1

This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]

RSPRY1 Gene

ring finger and SPRY domain containing 1

This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

ANKAR Gene

ankyrin and armadillo repeat containing

LOC389768 Gene

potassium channel tetramerization domain containing 1 pseudogene

LOC100422426 Gene

CASP2 and RIPK1 domain containing adaptor with death domain pseudogene

ZC3H10 Gene

zinc finger CCCH-type containing 10

ZC3H13 Gene

zinc finger CCCH-type containing 13

ZC3H14 Gene

zinc finger CCCH-type containing 14

ZC3H14 belongs to a family of poly(A)-binding proteins that influence gene expression by regulating mRNA stability, nuclear export, and translation (Kelly et al., 2007 [PubMed 17630287]).[supplied by OMIM, Mar 2010]

ZC3H18 Gene

zinc finger CCCH-type containing 18

DENND4A Gene

DENN/MADD domain containing 4A

DENND4B Gene

DENN/MADD domain containing 4B

PAMR1 Gene

peptidase domain containing associated with muscle regeneration 1

GHDC Gene

GH3 domain containing

FYCO1 Gene

FYVE and coiled-coil domain containing 1

This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011]

CUEDC1 Gene

CUE domain containing 1

CUEDC2 Gene

CUE domain containing 2

TRIM51FP Gene

tripartite motif-containing 51F, pseudogene

BRD8 Gene

bromodomain containing 8

The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]

BRD9 Gene

bromodomain containing 9

BRD4 Gene

bromodomain containing 4

The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

BRD7 Gene

bromodomain containing 7

This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

BRD1 Gene

bromodomain containing 1

This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schozophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

BRD2 Gene

bromodomain containing 2

This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010]

BRD3 Gene

bromodomain containing 3

This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]

ZSCAN9 Gene

zinc finger and SCAN domain containing 9

ZSCAN4 Gene

zinc finger and SCAN domain containing 4

The ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining normal karyotype for many cell divisions in culture (Zalzman et al., 2010 [PubMed 20336070]).[supplied by OMIM, May 2010]

ZSCAN1 Gene

zinc finger and SCAN domain containing 1

ZSCAN2 Gene

zinc finger and SCAN domain containing 2

The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

EFTUD1P1 Gene

elongation factor Tu GTP binding domain containing 1 pseudogene 1

EFTUD1P2 Gene

elongation factor Tu GTP binding domain containing 1 pseudogene 2

PSD Gene

pleckstrin and Sec7 domain containing

This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

LOC646388 Gene

zinc finger, CCHC domain containing 9 pseudogene

ANKLE1 Gene

ankyrin repeat and LEM domain containing 1

ANKLE2 Gene

ankyrin repeat and LEM domain containing 2

This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]

TM2D1 Gene

TM2 domain containing 1

The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. [provided by RefSeq, Dec 2008]

TM2D2 Gene

TM2 domain containing 2

The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008]

TM2D3 Gene

TM2 domain containing 3

The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]

LOC100420765 Gene

leucine-rich pentatricopeptide repeat containing pseudogene

RSAD2 Gene

radical S-adenosyl methionine domain containing 2

RSAD1 Gene

radical S-adenosyl methionine domain containing 1

BTBD6P1 Gene

BTB (POZ) domain containing 6 pseudogene 1

EFHC2 Gene

EF-hand domain (C-terminal) containing 2

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]

EFHC1 Gene

EF-hand domain (C-terminal) containing 1

This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

KLHDC9 Gene

kelch domain containing 9

FYTTD1P1 Gene

forty-two-three domain containing 1 pseudogene 1

UBFD1 Gene

ubiquitin family domain containing 1

LRRC41 Gene

leucine rich repeat containing 41

LRRC40 Gene

leucine rich repeat containing 40

LRRC43 Gene

leucine rich repeat containing 43

LRRC42 Gene

leucine rich repeat containing 42

LRRC45 Gene

leucine rich repeat containing 45

LRRC47 Gene

leucine rich repeat containing 47

LRRC46 Gene

leucine rich repeat containing 46

LRRC49 Gene

leucine rich repeat containing 49

LRRC48 Gene

leucine rich repeat containing 48

FNDC8 Gene

fibronectin type III domain containing 8

FNDC9 Gene

fibronectin type III domain containing 9

FNDC4 Gene

fibronectin type III domain containing 4

FNDC5 Gene

fibronectin type III domain containing 5

This gene encodes a secreted protein that is released from muscle cells during exercise. The encoded protein may participate in the development of brown fat. Translation of the precursor protein initiates at a non-AUG start codon at a position that is conserved as an AUG start codon in other organisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

FNDC1 Gene

fibronectin type III domain containing 1

PWWP2B Gene

PWWP domain containing 2B

PWWP2A Gene

PWWP domain containing 2A

CCDC152 Gene

coiled-coil domain containing 152

CCDC153 Gene

coiled-coil domain containing 153

CCDC150 Gene

coiled-coil domain containing 150

CCDC151 Gene

coiled-coil domain containing 151

This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

CCDC157 Gene

coiled-coil domain containing 157

CCDC154 Gene

coiled-coil domain containing 154

CCDC155 Gene

coiled-coil domain containing 155

CCDC158 Gene

coiled-coil domain containing 158

CCDC159 Gene

coiled-coil domain containing 159

LRRC4C Gene

leucine rich repeat containing 4C

NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008]

LRRC4B Gene

leucine rich repeat containing 4B

PCED1A Gene

PC-esterase domain containing 1A

The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]

PCED1B Gene

PC-esterase domain containing 1B

This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

LOC100420569 Gene

ribosomal L24 domain containing 1 pseudogene

MANSC1 Gene

MANSC domain containing 1

GULP1 Gene

GULP, engulfment adaptor PTB domain containing 1

The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011]

CCDC11P1 Gene

coiled-coil domain containing 11 pseudogene 1

NACAD Gene

NAC alpha domain containing

LRRC37BP1 Gene

leucine rich repeat containing 37B pseudogene 1

LOC100131347 Gene

RAD52 motif containing 1 pseudogene

LOC100131340 Gene

5'-nucleotidase domain containing 1 pseudogene

LOC100422593 Gene

DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) pseudogene

PYCARD Gene

PYD and CARD domain containing

This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PRPF38AP2 Gene

PRP38 domain containing A pseudogene 2

CCDC50 Gene

coiled-coil domain containing 50

This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

CCDC51 Gene

coiled-coil domain containing 51

CCDC53 Gene

coiled-coil domain containing 53

CCDC54 Gene

coiled-coil domain containing 54

CCDC57 Gene

coiled-coil domain containing 57

CCDC58 Gene

coiled-coil domain containing 58

CCDC59 Gene

coiled-coil domain containing 59

MBOAT2 Gene

membrane bound O-acyltransferase domain containing 2

MBOAT1 Gene

membrane bound O-acyltransferase domain containing 1

This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

MBOAT7 Gene

membrane bound O-acyltransferase domain containing 7

This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

MBOAT4 Gene

membrane bound O-acyltransferase domain containing 4

FICD Gene

FIC domain containing

GPATCH2L Gene

G patch domain containing 2-like

CBWD6 Gene

COBW domain containing 6

CBWD5 Gene

COBW domain containing 5

CBWD3 Gene

COBW domain containing 3

CBWD2 Gene

COBW domain containing 2

CBWD1 Gene

COBW domain containing 1

ZNFX1 Gene

zinc finger, NFX1-type containing 1

ACBD3 Gene

acyl-CoA binding domain containing 3

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]

ACBD7 Gene

acyl-CoA binding domain containing 7

ACBD6 Gene

acyl-CoA binding domain containing 6

ACBD5 Gene

acyl-CoA binding domain containing 5

This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ACBD4 Gene

acyl-CoA binding domain containing 4

This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

CCDC3 Gene

coiled-coil domain containing 3

CCDC6 Gene

coiled-coil domain containing 6

This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]

CCDC7 Gene

coiled-coil domain containing 7

CCDC8 Gene

coiled-coil domain containing 8

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]

CCDC9 Gene

coiled-coil domain containing 9

LETMD1 Gene

LETM1 domain containing 1

This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011]

WFIKKN2 Gene

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2

The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]

WFIKKN1 Gene

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1

This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]

SARNP Gene

SAP domain containing ribonucleoprotein

This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

LRRC32 Gene

leucine rich repeat containing 32

This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]

LRRC36 Gene

leucine rich repeat containing 36

LOC388734 Gene

PRELI domain containing 1 pseudogene

CCDC88B Gene

coiled-coil domain containing 88B

This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]

PRORSD1P Gene

prolyl-tRNA synthetase associated domain containing 1, pseudogene

JMJD6 Gene

jumonji domain containing 6

This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

JMJD7 Gene

jumonji domain containing 7

This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]

JMJD4 Gene

jumonji domain containing 4

JMJD8 Gene

jumonji domain containing 8

APPL1 Gene

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1

The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]

APPL2 Gene

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2

The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]

ZNHIT3 Gene

zinc finger, HIT-type containing 3

ZNHIT2 Gene

zinc finger, HIT-type containing 2

ZNHIT1 Gene

zinc finger, HIT-type containing 1

ZNHIT6 Gene

zinc finger, HIT-type containing 6

LETM1P2 Gene

leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 2

LETM1P3 Gene

leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 3

BLID Gene

BH3-like motif containing, cell death inducer

This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011]

LOC345571 Gene

RUN and FYVE domain containing 3 pseudogene

FMO7P Gene

flavin containing monooxygenase 7 pseudogene

DTWD2 Gene

DTW domain containing 2

DTWD1 Gene

DTW domain containing 1

LOC100421870 Gene

WW domain containing E3 ubiquitin protein ligase 2 pseudogene

ABHD17A Gene

abhydrolase domain containing 17A

ABHD17B Gene

abhydrolase domain containing 17B

ABHD17C Gene

abhydrolase domain containing 17C

THSD1P1 Gene

thrombospondin, type I, domain containing 1 pseudogene 1

LOC105369176 Gene

putative tripartite motif-containing protein 64B

MFSD6L Gene

major facilitator superfamily domain containing 6-like

LOC101928508 Gene

zinc finger Ran-binding domain-containing protein 2 pseudogene

CMTM8 Gene

CKLF-like MARVEL transmembrane domain containing 8

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]

CMTM2 Gene

CKLF-like MARVEL transmembrane domain containing 2

This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008]

CMTM3 Gene

CKLF-like MARVEL transmembrane domain containing 3

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5' UTRs, but encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

CMTM1 Gene

CKLF-like MARVEL transmembrane domain containing 1

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CKLF (chemokine-like factor).[provided by RefSeq, Feb 2011]

CMTM6 Gene

CKLF-like MARVEL transmembrane domain containing 6

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]

CMTM4 Gene

CKLF-like MARVEL transmembrane domain containing 4

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

CMTM5 Gene

CKLF-like MARVEL transmembrane domain containing 5

This gene encodes a member of the chemokine-like factor superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. The encoded protein may exhibit tumor suppressor activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

PLEKHS1 Gene

pleckstrin homology domain containing, family S member 1

SMYD4 Gene

SET and MYND domain containing 4

SMYD1 Gene

SET and MYND domain containing 1

SMYD2 Gene

SET and MYND domain containing 2

SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]

SMYD3 Gene

SET and MYND domain containing 3

This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

LYSMD3 Gene

LysM, putative peptidoglycan-binding, domain containing 3

LYSMD4 Gene

LysM, putative peptidoglycan-binding, domain containing 4

CNBD2 Gene

cyclic nucleotide binding domain containing 2

CNBD1 Gene

cyclic nucleotide binding domain containing 1

TRIM53CP Gene

tripartite motif containing 53C, pseudogene

LOC650181 Gene

AhpC/TSA antioxidant enzyme domain containing 1 pseudogene

FCN3 Gene

ficolin (collagen/fibrinogen domain containing) 3

Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]

FCN2 Gene

ficolin (collagen/fibrinogen domain containing lectin) 2

The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

FCN1 Gene

ficolin (collagen/fibrinogen domain containing) 1

The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008]

ZMYND15 Gene

zinc finger, MYND-type containing 15

This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]

ZMYND12 Gene

zinc finger, MYND-type containing 12

ZMYND10 Gene

zinc finger, MYND-type containing 10

ZMYND11 Gene

zinc finger, MYND-type containing 11

The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ZMYND19 Gene

zinc finger, MYND-type containing 19

ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008]

PLEKHA8P1 Gene

pleckstrin homology domain containing, family A member 8 pseudogene 1

GVQW1 Gene

GVQW motif containing 1

LOC100422519 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

LOC100422513 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

SHC1P2 Gene

SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 2

SHC1P1 Gene

SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 1

TOPAZ1 Gene

testis and ovary specific PAZ domain containing 1

LOC101929816 Gene

ankyrin repeat domain-containing protein 30A-like

BPIFA3 Gene

BPI fold containing family A, member 3

BPIFA1 Gene

BPI fold containing family A, member 1

This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014]

SCP2D1 Gene

SCP2 sterol-binding domain containing 1

CCT5P1 Gene

chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 1

AHCTF1P1 Gene

AT hook containing transcription factor 1 pseudogene 1

SMNDC1 Gene

survival motor neuron domain containing 1

This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]

LRRC37A9P Gene

leucine rich repeat containing 37, member A9, pseudogene

LOC100420449 Gene

tripartite motif containing 48 pseudogene

LOC644158 Gene

leucine rich repeat containing 2 pseudogene

LOC100420442 Gene

tripartite motif-containing 75 pseudogene

RUFY1 Gene

RUN and FYVE domain containing 1

This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

RUFY3 Gene

RUN and FYVE domain containing 3

RUFY2 Gene

RUN and FYVE domain containing 2

RUFY4 Gene

RUN and FYVE domain containing 4

TRIM28 Gene

tripartite motif containing 28

The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]

TRIM29 Gene

tripartite motif containing 29

The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a leucine zipper motif. It has been proposed to form homo- or heterodimers which are involved in nucleic acid binding. Thus, it may act as a transcriptional regulatory factor involved in carcinogenesis and/or differentiation. It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype. [provided by RefSeq, Jul 2008]

TRIM24 Gene

tripartite motif containing 24

The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

TRIM25 Gene

tripartite motif containing 25

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. [provided by RefSeq, Jul 2008]

TRIM26 Gene

tripartite motif containing 26

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2011]

TRIM27 Gene

tripartite motif containing 27

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Fusion of the N-terminus of this protein with the truncated C-terminus of the RET gene product has been shown to result in production of the ret transforming protein. [provided by RefSeq, Jul 2008]

TRIM21 Gene

tripartite motif containing 21

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]

TRIM22 Gene

tripartite motif containing 22

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the cytoplasm and its expression is induced by interferon. The protein down-regulates transcription from the HIV-1 LTR promoter region, suggesting that function of this protein may be to mediate interferon's antiviral effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

TRIM23 Gene

tripartite motif containing 23

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008]

BEND3P1 Gene

BEN domain containing 3 pseudogene 1

LOC100130063 Gene

C-x(9)-C motif containing 2 pseudogene

ABHD8 Gene

abhydrolase domain containing 8

This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]

ABHD2 Gene

abhydrolase domain containing 2

This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

ABHD3 Gene

abhydrolase domain containing 3

This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]

ABHD1 Gene

abhydrolase domain containing 1

This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]

ABHD6 Gene

abhydrolase domain containing 6

ABHD4 Gene

abhydrolase domain containing 4

ABHD5 Gene

abhydrolase domain containing 5

The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]

CCDC90AP1 Gene

coiled-coil domain containing 90A pseudogene 1

LOC391710 Gene

tripartite motif-containing 75 pseudogene

LOC391711 Gene

tripartite motif-containing protein 60-like

TMIGD3 Gene

transmembrane and immunoglobulin domain containing 3

This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]

TMIGD2 Gene

transmembrane and immunoglobulin domain containing 2

TCTEX1D4 Gene

Tctex1 domain containing 4

FUNDC2 Gene

FUN14 domain containing 2

FUNDC1 Gene

FUN14 domain containing 1

This gene encodes a protein with a FUN14 superfamily domain. The function of the encoded protein is not known. [provided by RefSeq, Sep 2011]

WDFY3 Gene

WD repeat and FYVE domain containing 3

This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]

WDFY2 Gene

WD repeat and FYVE domain containing 2

This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008]

WDFY1 Gene

WD repeat and FYVE domain containing 1

The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]

GDPD1 Gene

glycerophosphodiester phosphodiesterase domain containing 1

This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

TBCK Gene

TBC1 domain containing kinase

This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

SH2D3A Gene

SH2 domain containing 3A

SH2D3C Gene

SH2 domain containing 3C

This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

PLEKHM1P Gene

pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene

ENDOD1 Gene

endonuclease domain containing 1

CRYBG3 Gene

beta-gamma crystallin domain containing 3

LOC729800 Gene

ZP domain-containing protein LOC729800-like

TRIM60P6Y Gene

tripartite motif containing 60 pseudogene 6, Y-linked

CHORDC2P Gene

cysteine and histidine-rich domain (CHORD) containing 2 pseudogene

STMND1 Gene

stathmin domain containing 1

SUN2 Gene

Sad1 and UNC84 domain containing 2

SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]

SUN3 Gene

Sad1 and UNC84 domain containing 3

SUN1 Gene

Sad1 and UNC84 domain containing 1

This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010]

SUN5 Gene

Sad1 and UNC84 domain containing 5

TNRC6A Gene

trinucleotide repeat containing 6A

This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]

LOC101929091 Gene

enoyl-CoA hydratase domain-containing protein 2, mitochondrial pseudogene

CACFD1 Gene

calcium channel flower domain containing 1

AOC3 Gene

amine oxidase, copper containing 3

This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

PHYHD1 Gene

phytanoyl-CoA dioxygenase domain containing 1

LOC102723407 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

MTHFSD Gene

methenyltetrahydrofolate synthetase domain containing

LOC729941 Gene

PDZ domain containing 11 pseudogene

LOC100420680 Gene

coiled-coil domain containing 90B pseudogene

ARMCX6 Gene

armadillo repeat containing, X-linked 6

ARMCX5 Gene

armadillo repeat containing, X-linked 5

ARMCX4 Gene

armadillo repeat containing, X-linked 4

The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

ARMCX3 Gene

armadillo repeat containing, X-linked 3

This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

ARMCX2 Gene

armadillo repeat containing, X-linked 2

This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]

ARMCX1 Gene

armadillo repeat containing, X-linked 1

This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008]

VTCN1 Gene

V-set domain containing T cell activation inhibitor 1

This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

LOC100132830 Gene

zinc finger CCCH-type containing 14 pseudogene

NLRP2P Gene

NLR family, pyrin domain containing 2 pseudogene

VPS9D1 Gene

VPS9 domain containing 1

R3HCC1L Gene

R3H domain and coiled-coil containing 1-like

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]

LOC100421646 Gene

von Willebrand factor A domain containing 5B2 pseudogene

STARD9 Gene

StAR-related lipid transfer (START) domain containing 9

GLTPD2 Gene

glycolipid transfer protein domain containing 2

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]

LOC391813 Gene

zinc finger, DHHC-type containing 3 pseudogene

LOC100129457 Gene

coiled-coil domain containing 86 pseudogene

LDLRAD4 Gene

low density lipoprotein receptor class A domain containing 4

TNRC17 Gene

trinucleotide repeat containing 17

TNRC18 Gene

trinucleotide repeat containing 18

CCDC28B Gene

coiled-coil domain containing 28B

The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

CCDC28A Gene

coiled-coil domain containing 28A

This gene is located in a region close to the locus of the pseudogene of chemokine (C-C motif) receptor-like 1 on chromosome 6. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]

KCTD11 Gene

potassium channel tetramerization domain containing 11

ANKUB1 Gene

ankyrin repeat and ubiquitin domain containing 1

ZBTB3 Gene

zinc finger and BTB domain containing 3

ZBTB1 Gene

zinc finger and BTB domain containing 1

LOC643014 Gene

coiled-coil domain containing 90B pseudogene

LOC100128091 Gene

coiled-coil domain containing 25 pseudogene

HECW1 Gene

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1

HECW2 Gene

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

GLT6D1 Gene

glycosyltransferase 6 domain containing 1

The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]

OXNAD1 Gene

oxidoreductase NAD-binding domain containing 1

LOC101929203 Gene

RING finger and transmembrane domain-containing protein 1-like

TLCD2 Gene

TLC domain containing 2

TLCD1 Gene

TLC domain containing 1

LOC100133225 Gene

zinc finger, DHHC-type containing 7 pseudogene

LRRC74A Gene

leucine rich repeat containing 74A

LRRC74B Gene

leucine rich repeat containing 74B

ZC3H8 Gene

zinc finger CCCH-type containing 8

ZC3H3 Gene

zinc finger CCCH-type containing 3

ZC3H4 Gene

zinc finger CCCH-type containing 4

This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]

UBIAD1 Gene

UbiA prenyltransferase domain containing 1

This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]

LCP2 Gene

lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)

SLP-76 was originally identified as a substrate of the ZAP-70 protein tyrosine kinase following T cell receptor (TCR) ligation in the leukemic T cell line Jurkat. The SLP-76 locus has been localized to human chromosome 5q33 and the gene structure has been partially characterized in mice. The human and murine cDNAs both encode 533 amino acid proteins that are 72% identical and comprised of three modular domains. The NH2-terminus contains an acidic region that includes a PEST domain and several tyrosine residues which are phosphorylated following TCR ligation. SLP-76 also contains a central proline-rich domain and a COOH-terminal SH2 domain. A number of additional proteins have been identified that associate with SLP-76 both constitutively and inducibly following receptor ligation, supporting the notion that SLP-76 functions as an adaptor or scaffold protein. Studies using SLP-76 deficient T cell lines or mice have provided strong evidence that SLP-76 plays a positive role in promoting T cell development and activation as well as mast cell and platelet function. [provided by RefSeq, Jul 2008]

ZFYVE9P2 Gene

zinc finger, FYVE domain containing 9 pseudogene 2

ZFYVE9P1 Gene

zinc finger, FYVE domain containing 9 pseudogene 1

VSIG10L Gene

V-set and immunoglobulin domain containing 10 like

ZDHHC20P4 Gene

zinc finger, DHHC-type containing 20 pseudogene 4

ZDHHC20P2 Gene

zinc finger, DHHC-type containing 20 pseudogene 2

ZDHHC20P1 Gene

zinc finger, DHHC-type containing 20 pseudogene 1

VWC2 Gene

von Willebrand factor C domain containing 2

This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009]

COMTD1 Gene

catechol-O-methyltransferase domain containing 1

RPRD1A Gene

regulation of nuclear pre-mRNA domain containing 1A

This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]

RPRD1B Gene

regulation of nuclear pre-mRNA domain containing 1B

PCNPP3 Gene

PEST containing nuclear protein pseudogene 3

PCNPP1 Gene

PEST containing nuclear protein pseudogene 1

KHDC1P1 Gene

KH homology domain containing 1 pseudogene 1

PCNPP5 Gene

PEST containing nuclear protein pseudogene 5

PCNPP4 Gene

PEST containing nuclear protein pseudogene 4

LOC102725051 Gene

ankyrin repeat domain-containing protein 20A2-like

NONO Gene

non-POU domain containing, octamer-binding

This gene encodes an RNA-binding protein which plays various roles in the nucleus, including transcriptional regulation and RNA splicing. A rearrangement between this gene and the transcription factor E3 gene has been observed in papillary renal cell carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes exist on Chromosomes 2 and 16. [provided by RefSeq, Feb 2009]

LOC105379417 Gene

ankyrin repeat domain-containing protein 20A2-like

ZBED1 Gene

zinc finger, BED-type containing 1

This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It was earlier identified as a gene with similarity to Ac transposable elements, however, was found not to have transposase activity. Later studies show that this gene product is localized in the nucleus and functions as a transcription factor. It binds to DNA elements found in the promoter regions of several genes related to cell proliferation, such as histone H1, hence may have a role in regulating genes related to cell proliferation. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene. [provided by RefSeq, Jan 2010]

ZBED2 Gene

zinc finger, BED-type containing 2

ZBED3 Gene

zinc finger, BED-type containing 3

ZBED5 Gene

zinc finger, BED-type containing 5

This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]

ZBED6 Gene

zinc finger, BED-type containing 6

ZBED8 Gene

zinc finger, BED-type containing 8

ZBED9 Gene

zinc finger, BED-type containing 9

PRELID1P2 Gene

PRELI domain containing 1 pseudogene 2

PRELID1P3 Gene

PRELI domain containing 1 pseudogene 3

PRELID1P1 Gene

PRELI domain containing 1 pseudogene 1

PRELID1P4 Gene

PRELI domain containing 1 pseudogene 4

CCDC74A Gene

coiled-coil domain containing 74A

UBOX5 Gene

U-box domain containing 5

This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

LOC105369258 Gene

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4

LOC105369251 Gene

ankyrin repeat domain-containing protein 33B-like

GATAD2B Gene

GATA zinc finger domain containing 2B

DCAKD Gene

dephospho-CoA kinase domain containing

PLEKHH3 Gene

pleckstrin homology domain containing, family H (with MyTH4 domain) member 3

PLEKHH2 Gene

pleckstrin homology domain containing, family H (with MyTH4 domain) member 2

PLEKHH1 Gene

pleckstrin homology domain containing, family H (with MyTH4 domain) member 1

LOC100419812 Gene

COBW domain containing 7 pseudogene

LOC101059949 Gene

putative ankyrin repeat domain-containing protein 20A12 pseudogene

LRRC37A11P Gene

leucine rich repeat containing 37, member A11, pseudogene

LRRC3B Gene

leucine rich repeat containing 3B

GPATCH11 Gene

G patch domain containing 11

LOC729496 Gene

coiled-coil domain containing 59 pseudogene

LRRC38 Gene

leucine rich repeat containing 38

LRRC39 Gene

leucine rich repeat containing 39

LRRC30 Gene

leucine rich repeat containing 30

LRRC31 Gene

leucine rich repeat containing 31

LRRC34 Gene

leucine rich repeat containing 34

CCDC169 Gene

coiled-coil domain containing 169

CCDC168 Gene

coiled-coil domain containing 168

CCDC160 Gene

coiled-coil domain containing 160

CCDC167 Gene

coiled-coil domain containing 167

CCDC166 Gene

coiled-coil domain containing 166

RASEF Gene

RAS and EF-hand domain containing

This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012]

GUCD1 Gene

guanylyl cyclase domain containing 1

ENKD1 Gene

enkurin domain containing 1

LOC442292 Gene

coiled-coil domain containing 86 pseudogene

PM20D1 Gene

peptidase M20 domain containing 1

CLHC1 Gene

clathrin heavy chain linker domain containing 1

RGPD5 Gene

RANBP2-like and GRIP domain containing 5

RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene shares a high degree of sequence identity with RANBP2, a large RAN-binding protein localized at the cytoplasmic side of the nuclear pore complex. It is believed that this RANBP2 gene family member arose from a duplication event 3 Mb distal to RANBP2. Alternative splicing has been observed for this locus and two variants are described. Additional splicing is suggested but complete sequence for further transcripts has not been determined. [provided by RefSeq, Jul 2008]

PQLC2 Gene

PQ loop repeat containing 2

GRWD1 Gene

glutamate-rich WD repeat containing 1

This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012]

PQLC1 Gene

PQ loop repeat containing 1

FRMPD4 Gene

FERM and PDZ domain containing 4

This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]

FRMPD1 Gene

FERM and PDZ domain containing 1

FRMPD3 Gene

FERM and PDZ domain containing 3

FRMPD2 Gene

FERM and PDZ domain containing 2

This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]

LOC101060256 Gene

tripartite motif-containing protein 51-like

BPIFC Gene

BPI fold containing family C

KRBA1 Gene

KRAB-A domain containing 1

KRBA2 Gene

KRAB-A domain containing 2

BEND7P1 Gene

BEN domain containing 7 pseudogene 1

UBTD2 Gene

ubiquitin domain containing 2

UBTD1 Gene

ubiquitin domain containing 1

The degradation of many proteins is carried out by the ubiquitin pathway in which proteins are targeted for degradation by covalent conjugation of the polypeptide ubiquitin. This gene encodes a protein that belongs to the ubiquitin family of proteins. The encoded protein is thought to regulate E2 ubiquitin conjugating enzymes belonging to the UBE2D family. [provided by RefSeq, Mar 2014]

CHCHD2P9 Gene

coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 9

CHCHD2P6 Gene

coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 6

AMDHD1 Gene

amidohydrolase domain containing 1

AMDHD2 Gene

amidohydrolase domain containing 2

ZPLD1 Gene

zona pellucida-like domain containing 1

AOC4P Gene

amine oxidase, copper containing 4, pseudogene

MSANTD4 Gene

Myb/SANT-like DNA-binding domain containing 4 with coiled-coils

MSANTD1 Gene

Myb/SANT-like DNA-binding domain containing 1

MSANTD2 Gene

Myb/SANT-like DNA-binding domain containing 2

MSANTD3 Gene

Myb/SANT-like DNA-binding domain containing 3

TRIM51CP Gene

tripartite motif-containing 51C, pseudogene

LOC100629121 Gene

endonuclease domain containing 1 pseudogene

LOC391230 Gene

KN motif and ankyrin repeat domain-containing protein 1-like

KCTD3 Gene

potassium channel tetramerization domain containing 3

KCTD2 Gene

potassium channel tetramerization domain containing 2

KCTD1 Gene

potassium channel tetramerization domain containing 1

KCTD7 Gene

potassium channel tetramerization domain containing 7

This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

KCTD6 Gene

potassium channel tetramerization domain containing 6

KCTD5 Gene

potassium channel tetramerization domain containing 5

KCTD4 Gene

potassium channel tetramerization domain containing 4

KCTD9 Gene

potassium channel tetramerization domain containing 9

KCTD8 Gene

potassium channel tetramerization domain containing 8

ZFYVE19 Gene

zinc finger, FYVE domain containing 19

ZFYVE16 Gene

zinc finger, FYVE domain containing 16

This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

NATD1 Gene

N-acetyltransferase domain containing 1

ZC2HC1A Gene

zinc finger, C2HC-type containing 1A

NKPD1 Gene

NTPase, KAP family P-loop domain containing 1

HMBOX1 Gene

homeobox containing 1

LOC100130760 Gene

jumonji domain containing 4 pseudogene

TRIM60P5Y Gene

tripartite motif containing 60 pseudogene 5, Y-linked

SAYSD1 Gene

SAYSVFN motif domain containing 1

LOC101928088 Gene

LYR motif-containing protein 5-like

CDCP1 Gene

CUB domain containing protein 1

This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent regulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

CDCP2 Gene

CUB domain containing protein 2

JMJD1C Gene

jumonji domain containing 1C

SH3YL1 Gene

SH3 and SYLF domain containing 1

PRELID1 Gene

PRELI domain containing 1

This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]

LOC100420531 Gene

abhydrolase domain containing 10 pseudogene

SETD1A Gene

SET domain containing 1A

The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Jan 2015]

SETD1B Gene

SET domain containing 1B

SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]

LETM1 Gene

leucine zipper-EF-hand containing transmembrane protein 1

This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]

CCDC34P1 Gene

coiled-coil domain containing 34 pseudogene 1

EFEMP1 Gene

EGF containing fibulin-like extracellular matrix protein 1

This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]

EFEMP2 Gene

EGF containing fibulin-like extracellular matrix protein 2

A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]

LOC646071 Gene

disintegrin and metalloproteinase domain-containing protein 21-like

LOC388242 Gene

coiled-coil domain containing 101 pseudogene

LOC101930080 Gene

GPS, PLAT and transmembrane domain-containing protein FLJ00285-like

RPRD2 Gene

regulation of nuclear pre-mRNA domain containing 2

AOC1 Gene

amine oxidase, copper containing 1

This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

LOC100422528 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

LOC100422529 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

ZBTB8OSP2 Gene

zinc finger and BTB domain containing 8 opposite strand pseudogene 2

POPDC2 Gene

popeye domain containing 2

This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008]

POPDC3 Gene

popeye domain containing 3

This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]

LPP Gene

LIM domain containing preferred translocation partner in lipoma

This gene encodes a member of a subfamily of LIM domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

PCMTD1P1 Gene

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 1

PCMTD1P2 Gene

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 2

VWC2L Gene

von Willebrand factor C domain containing protein 2-like

DMWD Gene

dystrophia myotonica, WD repeat containing

NLRP5 Gene

NLR family, pyrin domain containing 5

The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]

NLRP4 Gene

NLR family, pyrin domain containing 4

NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP4, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008]

NLRP7 Gene

NLR family, pyrin domain containing 7

This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

NLRP6 Gene

NLR family, pyrin domain containing 6

The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

NLRP1 Gene

NLR family, pyrin domain containing 1

This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

NLRP3 Gene

NLR family, pyrin domain containing 3

This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008]

NLRP2 Gene

NLR family, pyrin domain containing 2

NALP proteins, such as NALP2, are characterized by an N-terminal pyrin (MIM 608107) domain (PYD) and are involved in the activation of caspase-1 (CASP1; MIM 147678) by Toll-like receptors (see TLR4; MIM 603030). They may also be involved in protein complexes that activate proinflammatory caspases (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008]

NLRP9 Gene

NLR family, pyrin domain containing 9

The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]

NLRP8 Gene

NLR family, pyrin domain containing 8

NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP8, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008]

LOC391239 Gene

V-set domain containing T cell activation inhibitor 1 pseudogene

NLRP11 Gene

NLR family, pyrin domain containing 11

NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP11, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008]

NLRP13 Gene

NLR family, pyrin domain containing 13

NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP13, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008]

NLRP12 Gene

NLR family, pyrin domain containing 12

This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

KDELC1 Gene

KDEL (Lys-Asp-Glu-Leu) containing 1

This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. [provided by RefSeq, Jul 2008]

KDELC2 Gene

KDEL (Lys-Asp-Glu-Leu) containing 2

ZBBX Gene

zinc finger, B-box domain containing

TRIM64C Gene

tripartite motif containing 64C

TRIM64B Gene

tripartite motif containing 64B

RPUSD4 Gene

RNA pseudouridylate synthase domain containing 4

GRAMD4P1 Gene

GRAM domain containing 4 pseudogene 1

GRAMD4P3 Gene

GRAM domain containing 4 pseudogene 3

GRAMD4P2 Gene

GRAM domain containing 4 pseudogene 2

GRAMD4P5 Gene

GRAM domain containing 4 pseudogene 5

GRAMD4P7 Gene

GRAM domain containing 4 pseudogene 7

GRAMD4P8 Gene

GRAM domain containing 4 pseudogene 8

R3HCC1 Gene

R3H domain and coiled-coil containing 1

TRIM71 Gene

tripartite motif containing 71, E3 ubiquitin protein ligase

PASD1 Gene

PAS domain containing 1

This gene encodes a protein that is thought to function as a transcription factor. The protein is a cancer-associated antigen that can stimulate autologous T-cell responses, and it is therefore considered to be a potential immunotherapeutic target for the treatment of various hematopoietic malignancies, including diffuse large B-cell lymphoma. [provided by RefSeq, May 2010]

PXK Gene

PX domain containing serine/threonine kinase

This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

ZC3H11B Gene

zinc finger CCCH-type containing 11B pseudogene

ZFC3H1 Gene

zinc finger, C3H1-type containing

YEATS4 Gene

YEATS domain containing 4

The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

OBFC1 Gene

oligonucleotide/oligosaccharide-binding fold containing 1

OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]

BTBD10P2 Gene

BTB (POZ) domain containing 10 pseudogene 2

BTBD10P1 Gene

BTB (POZ) domain containing 10 pseudogene 1

CCT4P1 Gene

chaperonin containing TCP1, subunit 4 (delta) pseudogene 1

TNRC18P2 Gene

trinucleotide repeat containing 18 pseudogene 2

TNRC18P3 Gene

trinucleotide repeat containing 18 pseudogene 3

CHCHD3P3 Gene

coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 3

CHCHD3P2 Gene

coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 2

CHCHD3P1 Gene

coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 1

DCST2 Gene

DC-STAMP domain containing 2

DCST1 Gene

DC-STAMP domain containing 1

This gene encodes a protein with a domain similar to one found in dendritic cells (PMID:11169400) which play a key role in antigen processing and display for immune responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

DBNDD2 Gene

dysbindin (dystrobrevin binding protein 1) domain containing 2

DBNDD1 Gene

dysbindin (dystrobrevin binding protein 1) domain containing 1

LKAAEAR1 Gene

LKAAEAR motif containing 1

LYPD6 Gene

LY6/PLAUR domain containing 6

Members of the LY6 protein family (see SLURP1; MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al., 2010 [PubMed 19653121]).[supplied by OMIM, Apr 2010]

QTRTD1 Gene

queuine tRNA-ribosyltransferase domain containing 1

This gene encodes a subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine, and tyrosine. The encoded protein may play a role in the queuosine 5'-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

CCDC90B Gene

coiled-coil domain containing 90B

LOC102723660 Gene

ankyrin repeat domain-containing protein SOWAHC-like

LOC100419960 Gene

kelch domain containing 4 pseudogene

ISLR2 Gene

immunoglobulin superfamily containing leucine-rich repeat 2

LOC100420848 Gene

Myb/SANT-like DNA-binding domain containing 3 pseudogene

LOC105372412 Gene

phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein-like

R3HDML Gene

R3H domain containing-like

PSD2 Gene

pleckstrin and Sec7 domain containing 2

PSD4 Gene

pleckstrin and Sec7 domain containing 4

R3HDM4 Gene

R3H domain containing 4

R3HDM1 Gene

R3H domain containing 1

R3HDM2 Gene

R3H domain containing 2

SUCO Gene

SUN domain containing ossification factor

LOC100421400 Gene

alanyl-tRNA synthetase domain containing 1 pseudogene

ZC2HC1B Gene

zinc finger, C2HC-type containing 1B

ZC2HC1C Gene

zinc finger, C2HC-type containing 1C

FXYD6 Gene

FXYD domain containing ion transport regulator 6

This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.[provided by RefSeq, Feb 2011]

FXYD7 Gene

FXYD domain containing ion transport regulator 7

This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000]

FXYD4 Gene

FXYD domain containing ion transport regulator 4

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]

FXYD5 Gene

FXYD domain containing ion transport regulator 5

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009]

FXYD2 Gene

FXYD domain containing ion transport regulator 2

This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011]

FXYD3 Gene

FXYD domain containing ion transport regulator 3

This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]

FXYD1 Gene

FXYD domain containing ion transport regulator 1

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008]

IGFN1 Gene

immunoglobulin-like and fibronectin type III domain containing 1

OGFOD1 Gene

2-oxoglutarate and iron-dependent oxygenase domain containing 1

OGFOD3 Gene

2-oxoglutarate and iron-dependent oxygenase domain containing 3

OGFOD2 Gene

2-oxoglutarate and iron-dependent oxygenase domain containing 2

LOC100131280 Gene

integrin alpha FG-GAP repeat containing 2 pseudogene

LOC100421368 Gene

zinc finger and SCAN domain containing 5A pseudogene

LOC100288803 Gene

F-box and WD repeat domain containing 2 pseudogene

TACC1P1 Gene

transforming, acidic coiled-coil containing protein 1 pseudogene 1</