Gene List

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Gene List
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Symbol Type Of Gene Taxonomy ID Gene ID Description View
CACNG4 - L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, … View
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BAPX1 - This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in … View
NUSAP1 - - View
ZNF626 - - View
DGCR14 - This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group … View
SCAND2 - The SCAN domain is a highly conserved, leucine-rich motif of approximately 60 aa originally found within a subfamily of zinc … View
OFD1 - Human chromosomal region Xp22.3-p21.3 comprises the area between the pseudoautosomal boundary and the Duchenne muscular dystrophy gene (MIM 300377). This … View
CYP2R1 - This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze … View
IFI27 - - View
HEXA - Hexosaminidase A is the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes … View
SERPINB1 - Regulates the activity of the neutrophil proteases elastase, cathepsin G and proteinase-3. View
SNX14 - This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which … View
CSRP2 - CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be … View
FABP3P2 - - View
COG5 - Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes … View
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MGAT3 - There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. N-acetylglucosaminyltransferase III … View
ARHGAP11A - - View
MTM1 - This gene is a member of a gene family that encodes tyrosine phosphatases. Myotubularin is required for muscle cell differentiation … View
- - Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the … View
ACTR3 - The specific function of this gene has not yet been determined; however, the protein it encodes is known to be … View
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TEF - Thyrotroph embryonic factor (TEF), a transcription factor, is a member of the PAR (proline and acidic amino acid-rich) subfamily of … View
CAMTA1 - - View
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KRT24 - - View
SPTLC2 - This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is … View
CPEB1 - CPEB1 binds the cytoplasmic polyadenylation element (CPE), a uridine-rich sequence element within the mRNA 3-prime untranslated region (UTR) involved in … View
CAPSL - - View
SCARB2 - The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes … View
NFKBIE - NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB (MIM 604758) … View
TM4SF18 - - View
ZNRF3 - - View
MERTK - This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III … View
ITIH1 - Contains a potential peptide which could stimulate a broad spectrum of phagocytotic cells. View
ELF3 - - View
C11orf24 - - View
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- - DISCONTINUED: LocusID:80103 was defined by AK025116.1 which contains repeat sequence and does not appear to represent a protein coding gene. View
PHF14 - - View
C5orf5 - - View
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SH3BGRL - - View
- - Splicing factor that seems to antagonize SR proteins in pre-mRNA splicing regulation. View
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PPP1R14C - Inhibitor of PPP1CA. Has over 600-fold higher inhibitory activity when phosphorylated, creating a molecular switch for regulating the phosphorylation status … View
DHRS8 - - View
HIST1H4F - Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules … View
SUPT4H1 - Important for transcription initiation. May modulate chromatin formation and activity. View
KIAA0101 - - View
ZNF211 - May function as a transcription factor. View
MAP3K11 - The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain … View
CHRNE - Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two … View
OTOF - Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein … View
CRYL1 - - View
SSRP1 - The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation … View
SMARCA2 - The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to … View
MEIS2 - This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE … View
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C10orf118 - - View
DES - This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting … View
PYGM - Glycogen phosphorylase (EC 2.4.1.1) catalyzes and regulates the breakdown of glycogen to glucose-1-phosphate.[supplied by OMIM] View
C10orf95 - - View
GAL3ST2 - Sulfated glycoconjugates are found in glycoproteins, proteoglycans, glycolipids, and polysaccharides. GP3ST transfers a sulfate group to the hydroxyl at C3 … View
RAB2 - Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved … View
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RHCG - - View
PABPC4 - Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP … View
DNAH6 - - View
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SFRS4 - A probable role in alternative splice site selection during pre-mRNA splicing. View
- - The function of this gene is not known, however, its existence is supported by mRNAs and EST data. Transcript variants … View
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ACOX2 - The product of this gene belongs to the acyl-CoA oxidases family. It encodes the branched-chain acyl-CoA oxidase which is involved … View
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WDR52 - CDON (MIM 608707) and BOC are cell surface receptors of the immunoglobulin (Ig)/fibronectin type III (FNIII; see MIM 135600) repeat … View
STC1 - This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine … View
ZDHHC22 - - View
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C6orf192 - This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is … View
MAT1A - MAT1A encodes methionine adenosyltransferase I (alpha isoform). MATIA catalyzes the formation of S-adenosylmethionine from methionine and ATP. Both the beta … View
NALP1 - This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) … View
- - This gene encodes a member of the IGF-II mRNA-binding protein (IMP) family. The protein encoded by this gene contains several … View
ZNF339 - DNA-binding protein that binds to the 5'-G[GCT]GGGGG-3' core sequence. Probably acts as a transcription regulator (By similarity). View
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CARD8 - Caspase recruitment domain (CARD)-containing proteins, such as CARD8, are involved in pathways leading to activation of caspases or nuclear factor … View
TAS2R10 - This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These … View
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SLC35A1 - Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function. View
C6orf105 - - View
HEMK1 - - View
WNT10B - The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in … View
TBL1XR1 - The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group … View
PSPC1 - - View
RPGRIP1 - Essential for RPGR function and is also required for normal disk morphogenesis (By similarity). View
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RUNX3 - CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, … View
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VPS45A - Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast … View
TNFSF13B - The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This … View
COL4A5 - This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations … View
ATF7IP - - View
WDR26 - This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 … View
CXCL14 - This gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein … View
MUC12 - - View
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NCOA6IP - Catalyzes the methyl transfer from S-adenosyl-methionine to the C-24 of zymosterol to form fecosterol (By similarity). View
BRD9 - - View
GFRA2 - Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles … View
COG8 - Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes … View
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SSX1 - The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins … View
ETHE1 - This gene encodes a protein that is expressed in the thyroid. View
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RCV1 - The protein encoded by this gene contains four calcium-binding EF-hand domains and belongs to the recoverin family of neuronal calcium … View
PLA2G7 - The PLA2G7 gene encodes platelet-activating factor (PAF) acetylhydrolase (EC 3.1.1.47), a secreted enzyme that catalyzes the degradation of PAF to … View
ARMCX5 - - View
C1orf66 - - View
POU2F1 - Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') and activates the promoters of the genes for some small nuclear … View
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- - This gene encodes one of the selenoproteins containing selenocysteine at the active site. The selenocysteine is encoded by the nonsense … View
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STAT6 - The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines … View
HPS5 - This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and … View
EVI2A - Mutations linked to neurofibromatosis type 1 led to the identification of NF1. NF1 encodes the protein neurofibromin, which appears to … View
GMIP - Stimulates, in vitro and in vivo, the GTPase activity of RhoA. View
C17orf39 - The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. … View
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TRIMP1 - The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three … View
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NVL - - View
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GRIN2B - N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA receptor channel has been shown to be involved in … View
THUMPD3 - - View
STMN2 - Superior cervical ganglion-10 is a neuronal growth-associated protein that shares significant amino acid sequence similarity with the phosphoprotein stathmin (MIM … View
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KIAA0963 - - View
PLAGL1 - This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activity. This gene has been shown to exhibit … View
PRCC - In a subset of papillary renal cell carcinomas, a t(X;1)(p11;q21) chromosome translocation has been repeatedly reported and is thought to … View
C6orf108 - This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that … View
DONSON - This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene … View
SCN4A - This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the … View
JAK3 - JAK3 encodes Janus kinase 3, a tyrosine kinase that belongs to the Janus family. JAK3 functions in signal transduction and … View
CHMP2A - - View
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C10orf31 - - View
FRAP1 - The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to … View
KIF25 - The protein encoded by this gene is a member of the kinesin-like protein family. Protein family members are microtubule-dependent molecular … View
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GPRASP1 - - View
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- - The protein encoded by this gene is similar to thymocyte protein Thy28, a highly conserved protein identified in vertebrates and … View
MKKS - This gene encodes a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in … View
CORIN - This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this … View
SLC25A2 - Located between the protocadherin beta and gamma gene clusters on chromosome 5, this intronless gene encodes a protein that is … View
RHPN1 - Binds specifically to GTP-Rho. May serve as a target for Rho. It has no enzymatic activity. It may interact with … View
EVC2 - Plays a critical role in bone formation and skeletal development. View
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XPNPEP2 - Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive … View
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PHKG1 - Phosphorylase kinase (EC 2.7.1.38) is a crucial glycogenolytic regulatory enzyme. The holoenzymes are composed of 16 subunit proteins containing equimolar … View
WNT1 - The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in … View
- - DISCONTINUED: LocusID 83402 was defined by AF130047.1 which does not appear to represent a protein-coding gene. View
PDZK11 - - View
EPS15 - This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and … View
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PPP1R12A - Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits … View
GORASP1 - The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The … View
- - Dendritic cells (DCs) are potent antigen-presenting cells which are involved in initiation of antigen-specific immune responses. The protein encoded by … View
PYY - This gut peptide inhibits exocrine pancreatic secretion, has a vasoconstrictory action and inhibitis jejunal and colonic mobility. View
PHOX2A - The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. … View
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TIMM10 - TIMM10 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. … View
AGTR2 - Angiotensin II is a potent pressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling … View
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SPP1 - Acts as a cytokine involved in enhancing production of interferon-gamma and interleukin-12 and reducing production of interleukin-10 and is essential … View
IQCG - - View
ZNF354A - - View
GUCY2D - Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in … View
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SRP54 - Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating … View
RAB15 - May act in concert with RAB3A in regulating aspects of synaptic vesicle membrane flow within the nerve terminal (By similarity). View
TNNT1 - Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin … View
ERN2 - Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress. Pro-apoptotic. Appears to play no role in … View
C1QG - C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The … View
MAST3 - - View