Gene List

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Gene List
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Symbol Type Of Gene Taxonomy ID Gene ID Description View
SLC5A12 - - View
USP46 - - View
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SRP9 - Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP9 together with SRP14 … View
MMRN1 - Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of … View
- - Probable scaffold protein that may be involved in mRNA transport (Potential). View
DEFB129 - Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this … View
ACAS2L - An acetyl-CoA synthetase found in the mitochondrial matrix has been characterized in both cow and mouse. It is primarily a … View
GVIN1 - - View
CRIP1 - Seems to have a role in zinc absorption and may function as an intracellular zinc transport protein. View
DMPK - May play a role in intracellular communication. View
RHOG - ARHG is a member of the RAS superfamily of genes, which encode GTP-binding proteins that act in the pathway of … View
MAPK7 - The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration … View
KIAA1115 - - View
ANGPT2 - Naturally occurring antagonist for both ANGPT1 and TIE2; expressed only at the sites of vascular remodeling; similar to angiopoietin-1 View
SMAD1 - The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of … View
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FCRL2 - May have an regulatory role in normal and neoplastic B cell development. View
SEC61G - The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of … View
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CHRD - This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins … View
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C6orf94 - - View
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BIRC1 - This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four … View
SLC5A4 - Sodium-dependent glucose transporter (By similarity). View
DEFB126 - Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this … View
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TDRD1 - This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been … View
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FBF1 - - View
LPA - Apo(a) is the main constituent of lipoprotein(a) (Lp(a)). It has serine proteinase activity and is able of autoproteolysis. Inhibits tissue-type … View
- - Some high-mobility group (HMG) box proteins (e.g., LEF1; MIM 153245) contain a single HMG box motif and bind DNA in … View
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ARRDC2 - - View
CST9L - The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while … View
LILRA6 - - View
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CPE - Carboxypeptidase E cleaves C-terminal amino acid residues and is involved in neuropeptide processing. It is a peripheral membrane protein. CPE … View
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AKR1C4 - This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. … View
NEK4 - Seems to act exclusively upon threonine residues (By similarity). View
ERCC1 - - View
PHOX2B - The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the … View
SEC15L2 - In yeast and rat, Sec15 is part of a multiprotein complex that is required for targeted exocytosis.[supplied by OMIM] View
MCM2 - The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in … View
- - This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase … View
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ZNF157 - This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as … View
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LRRC40 - - View
KIAA0802 - - View
ACTA1 - Actin alpha 1 which is expressed in skeletal muscle is one of six different actin isoforms which have been identified. … View
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TCEAL7 - - View
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AP1GBP1 - This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located … View
WDR6 - This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 … View
PHYHIP - Its interaction with PHYH suggests a role in the development of the central system. View
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ZNFN1A5 - Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are … View
ATP5G2 - This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of … View
RAD23B - The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in … View
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FAM47A - - View
ABCC10 - The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport … View
LMOD1 - The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed … View
- - E3 Ubiquitin ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an … View
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SLC6A8 - Required for the uptake of creatine in muscles and brain. View
BCAN - May play a role in the terminally differentiating and the adult nervous system during postnatal development. Could stabilize interactions between … View
SLC2A9 - This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role … View
SYT14L - - View
RNF13 - The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. … View
TXNL6 - - View
PPP1R3E - - View
ADAMTS17 - This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members … View
TEX11 - This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms … View
PLAA - Plays an important role in the regulation of specific inflammatory disease processes (By similarity). View
GCET2 - This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell … View
SLC7A5 - Sodium-independent, high-affinity transport of large neutral amino acids. Involved in cellular amino acid uptake. View
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DHFR - Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, … View
FPGT - L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the … View
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- - Stress-activated component of a protein kinase signal transduction cascade. Regulates the JNK and p38 pathways. Pro- apoptotic. Role in regulation … View
NGB - This gene encodes an oxygen-binding protein that is distantly related to members of the globin gene family. It is highly … View
C13orf18 - - View
AQP10 - This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable … View
GDF10 - The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. … View
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ZNF19 - The protein encoded by this gene contains a zinc finger, a nucleic acid-binding domain present in many transcription factors. This … View
KIF3B - The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement … View
RND2 - - View
TH1L - The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The … View
SEMA4C - - View
LRP4 - Potential cell surface endocytic receptor, which binds and internalizes extracellular ligands for degradation by lysosomes. View
GNL2 - GTPase that associates with pre-60S ribosomal subunits in the nucleolus and is required for their nuclear export and maturation (By … View
ACAA1 - Acetyl-Coenzyme A acyltransferase (ACAA1) is an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads … View
RAB40C - - View
SAC3D1 - - View
C6orf154 - - View
F2RL2 - Coagulation factor II (thrombin) receptor-like 2 (F2RL2) is a member of the large family of 7-transmembrane-region receptors that couple to … View
GPR109B - Orphan receptor. View
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HAVCR1 - - View
YIF1B - - View
SHMT2 - Interconversion of serine and glycine. View
C3orf4 - - View
C19orf12 - - View
RRAS2 - It is a plasma membrane-associated GTP-binding protein with GTPase activity. Might transduce growth inhibitory signals across the cell membrane, exerting … View
SIT1 - - View
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PAQR6 - - View
C6orf173 - - View
SYPL1 - - View
VAMP4 - Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking … View
- - - View
SNCG - Synuclein-gamma is a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of … View
PTGER2 - Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. The … View
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- - May be a cytoskeletal regulator. View
PTK9L - The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The … View
ZNF131 - May be involved in transcriptional regulation. View
SARA1 - Calmodulin mediates the control of a large number of enzymes by Ca(2+). Among the enzymes to be stimulated by the … View
GTF2H4 - - View
DEPDC5 - - View
ZXDB - - View
- - - View
PDIA6 - - View
KIAA1468 - - View
GTF3C1 - Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for … View
SRPR - Ensures, in conjunction with SRP, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system. View
CREB3L1 - - View
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NCL - Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in … View
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SYNJ2BP - - View
DUSP4 - The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their … View
KCTD2 - - View
MAP3K6 - This gene encodes a member of the serine/threonine protein kinase family. The encoded kinase was identified by its interaction with … View
ADM - Adrenomedullin, a hypotensive peptide found in human pheochromocytoma, consists of 52 amino acids, has 1 intramolecular disulfide bond, and shows … View
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C9orf39 - - View
FBXW5 - This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino … View
C14orf21 - - View
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GAS2L1 - The protein encoded by this gene, a member of the GAS2 family, is similar in sequence to the mouse protein … View
ZNF426 - May function as a transcription factor. View
ASH1L - Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Prime candidate for an early developmental control gene. View
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BCAR3 - Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. … View
FKBPL - The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and … View
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UTP14C - Essential for spermatogenesis. May be required specifically for ribosome biogenesis and hence protein synthesis during male meiosis (By similarity). View
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HAAO - 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is … View
FGD4 - Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. … View
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NAT5 - Seems to be involved in N-acetylation (By similarity). View
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INE1 - X chromosome inactivation provides dosage compensation for the expression level of X-linked genes from the single X in males and … View
ASB14 - The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. … View
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IL17RD - Fibroblast growth factors (FGFs; see MIM 603726) are secreted proteins involved in cellular proliferation, migration, differentiation, and survival. FGF activity … View
IGF2R - CD222 is a 250kDa transmembrane protein with a short cytoplasmic tail containing an internalization signal. CD222 was originally identified as … View
RAX - Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds … View
ARHGEF18 - Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, … View
ZIC4 - This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important … View
NMNAT1 - The coenzyme NAD and its derivatives are involved in hundreds of metabolic redox reactions and are utilized in protein ADP-ribosylation, … View
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PSMA1 - The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed … View
FXYD5 - This reference sequence was derived from AF161462.1 and ESTs; validated by multiple replicate ESTs and human genomic sequence. This gene … View
AADACL1 - - View
CFHL4 - Might be involved in complement regulation. View
GRN - Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of … View
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- - Gamma-tubulin complex is necessary for microtublule nucleation at the centrosome. View
TM9SF4 - - View
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NPTX1 - NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene … View
YPEL2 - - View
TIMP4 - This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the … View
TIA1 - The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic … View
TNFRSF13B - The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts … View
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FBXL17 - Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, … View
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CTPS2 - The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to … View
- - Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process. View
CMYA3 - - View
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SUFU - SUFU encodes a component of the sonic hedgehog (SHH; MIM 600725)/patched (PTCH; MIM 601309) signaling pathway. Mutations in genes encoding … View
ZBTB39 - May be involved in transcriptional regulation. View
ZNF397 - Isoform 3 acts as a DNA-dependent transcriptional repressor. View
COPS6 - The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex … View
- - Required for centrosome duplication. Overexpression results in excess foci-bearing centriolar markers. View
ZNRF4 - - View