| - |
- |
|
|
-
|
View
|
| GATAD2B |
- |
|
|
Has transcriptional repressor activity. Targets MBD3 to discrete loci in the nucleus.
|
View
|
| MMP10 |
- |
|
|
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such …
|
View
|
| - |
- |
|
|
-
|
View
|
| ARID4B |
- |
|
|
This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The gene product is recognized by IgG antibody isolated …
|
View
|
| TARBP1 |
- |
|
|
HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during …
|
View
|
| DIRAS1 |
- |
|
|
DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by …
|
View
|
| INPP5F |
- |
|
|
The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of …
|
View
|
| PAPOLB |
- |
|
|
-
|
View
|
| STARD13 |
- |
|
|
May function as a GTPase-activating protein.
|
View
|
| SLC25A26 |
- |
|
|
-
|
View
|
| GYPB |
- |
|
|
Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for …
|
View
|
| ZNF532 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MUM1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| FMR1NB |
- |
|
|
-
|
View
|
| PITPNM1 |
- |
|
|
PITPNM1 belongs to a family of proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein.[supplied by OMIM]
|
View
|
| KRTHB3 |
- |
|
|
The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, …
|
View
|
| SMAD2 |
- |
|
|
The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of …
|
View
|
| - |
- |
|
|
-
|
View
|
| CCL14 |
- |
|
|
This gene, CCL14, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized …
|
View
|
| - |
- |
|
|
-
|
View
|
| PYCR1 |
- |
|
|
This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a …
|
View
|
| - |
- |
|
|
-
|
View
|
| SNX1 |
- |
|
|
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which …
|
View
|
| TGM5 |
- |
|
|
Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell …
|
View
|
| RAD1 |
- |
|
|
The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad1, a cell cycle …
|
View
|
| - |
- |
|
|
-
|
View
|
| LGALS2 |
- |
|
|
The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer …
|
View
|
| UXT |
- |
|
|
This gene encodes a novel protein which is highly conserved in mouse. It interacts with the N-terminus of the androgen …
|
View
|
| FEZ1 |
- |
|
|
This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation …
|
View
|
| WDHD1 |
- |
|
|
The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 …
|
View
|
| C5R1 |
- |
|
|
Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production.
|
View
|
| DATF1 |
- |
|
|
Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance …
|
View
|
| ABR |
- |
|
|
This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on …
|
View
|
| - |
- |
|
|
-
|
View
|
| IL5 |
- |
|
|
The protein encoded by this gene is a cytokine that acts as a growth and differentiation factor for both B …
|
View
|
| SPTBN2 |
- |
|
|
Probably plays an important role in neuronal membrane skeleton.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NPAT |
- |
|
|
-
|
View
|
| MYH10 |
- |
|
|
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.
|
View
|
| VPS33B |
- |
|
|
Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast …
|
View
|
| RQCD1 |
- |
|
|
-
|
View
|
| FSHB |
- |
|
|
The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist …
|
View
|
| HLA-B |
- |
|
|
HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C7orf31 |
- |
|
|
-
|
View
|
| MYADM |
- |
|
|
-
|
View
|
| LSM2 |
- |
|
|
Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; …
|
View
|
| KIAA0513 |
- |
|
|
-
|
View
|
| SCAMP5 |
- |
|
|
Probably involved in membrane protein trafficking (By similarity).
|
View
|
| KIF21A |
- |
|
|
KIF21A belongs to a family of plus end-directed kinesin (see MIM 600025) motor proteins. Neurons use kinesin and dynein (see …
|
View
|
| GEM |
- |
|
|
The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner …
|
View
|
| C1orf63 |
- |
|
|
-
|
View
|
| NUDT5 |
- |
|
|
Nudix hydrolases, such as NUDT5, eliminate toxic nucleotide derivatives from the cell and regulate the levels of important signaling nucleotides …
|
View
|
| TNFRSF11A |
- |
|
|
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF …
|
View
|
| TEAD1 |
- |
|
|
-
|
View
|
| PSCD3 |
- |
|
|
This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical …
|
View
|
| - |
- |
|
|
-
|
View
|
| NLGN1 |
- |
|
|
This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as …
|
View
|
| ZFPM2 |
- |
|
|
The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. …
|
View
|
| IFNAR1 |
- |
|
|
The protein encoded by this gene is a type I membrane protein that forms one of the two chains of …
|
View
|
| SYMPK |
- |
|
|
Specific component of the tight junction (TJ) plaque, but might not be an exclusively junctional component. May have a house-keeping …
|
View
|
| - |
- |
|
|
-
|
View
|
| SNRPA |
- |
|
|
In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and polyadenylation process.
|
View
|
| RNF138P1 |
- |
|
|
-
|
View
|
| CDH11 |
- |
|
|
This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NKX6-1 |
- |
|
|
-
|
View
|
| ARL3 |
- |
|
|
ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| KIAA0319 |
- |
|
|
-
|
View
|
| SAMHD1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| HES5 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SLC25A11 |
- |
|
|
Catalyzes the transport of 2-oxoglutarate across the inner mitochondrial membrane in an electroneutral exchange for malate or other dicarboxylic acids, …
|
View
|
| BHLHB4 |
- |
|
|
-
|
View
|
| ADAM22 |
- |
|
|
This gene encodes disintegrin and metalloprotease (ADAM) domain 22, which is a member of the ADAM protein family. Members of …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNFN1A1 |
- |
|
|
Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Functions in the specification and the maturation of the …
|
View
|
| CPN1 |
- |
|
|
Carboxypeptidase N (CPN)is a plasma metallo-protease that cleaves basic amino acid residues from the C terminal of peptides and proteins. …
|
View
|
| - |
- |
|
|
-
|
View
|
| CBX4 |
- |
|
|
Involved in maintaining the transcriptionally repressive state of genes. Modifies chromatin, rendering it heritably changed in its expressibility.
|
View
|
| ACP5 |
- |
|
|
Acid phosphatase 5 is an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. ACP5 …
|
View
|
| HTN3 |
- |
|
|
The primary protein encoded by HTN3 is histatin 3. Histatins are a family of small, histidine-rich, salivary proteins, encoded by …
|
View
|
| NBR2 |
- |
|
|
This gene was identified by its close proximity on chromosome 17 to tumor suppressor gene BRCA1. Experimental evidence indicates that …
|
View
|
| DGKZ |
- |
|
|
The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity …
|
View
|
| PLCXD1 |
- |
|
|
-
|
View
|
| C14orf138 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TM4SF5 |
- |
|
|
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. …
|
View
|
| BHLHB9 |
- |
|
|
-
|
View
|
| BXDC5 |
- |
|
|
May be required for ribosome biogenesis.
|
View
|
| MMRN2 |
- |
|
|
-
|
View
|
| SLIT3 |
- |
|
|
May act as molecular guidance cue in cellular migration, and function may be mediated by interaction with roundabaout homolog receptors.
|
View
|
| - |
- |
|
|
-
|
View
|
| GSCL |
- |
|
|
Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental …
|
View
|
| - |
- |
|
|
-
|
View
|
| FAM32A |
- |
|
|
-
|
View
|
| FARSLA |
- |
|
|
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. FARSL encodes a product which …
|
View
|
| PLEKHB2 |
- |
|
|
-
|
View
|
| SCAMP4 |
- |
|
|
Probably involved in membrane protein trafficking (By similarity).
|
View
|
| CLCN4 |
- |
|
|
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional …
|
View
|
| GLUD2 |
- |
|
|
Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission.
|
View
|
| C6orf150 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF10 |
- |
|
|
The protein encoded by this gene contains a C2H2 zinc finger, and has been shown to function as a transcriptional …
|
View
|
| GOLPH3 |
- |
|
|
The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The …
|
View
|
| RFT1 |
- |
|
|
-
|
View
|
| ZNF317 |
- |
|
|
May function as a transcription factor. May play an important role in erythroid maturation and lymphoid proliferation.
|
View
|
| HYAL3 |
- |
|
|
This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major …
|
View
|
| IL1F7 |
- |
|
|
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, …
|
View
|
| NELF |
- |
|
|
Influences outgrowth of olfactory axons and migration of LHRH neurons (By similarity).
|
View
|
| SDCCAG8 |
- |
|
|
-
|
View
|
| RG9MTD3 |
- |
|
|
-
|
View
|
| NUP62 |
- |
|
|
The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the …
|
View
|
| ZNF223 |
- |
|
|
-
|
View
|
| BANF1 |
- |
|
|
The protein encoded by this gene was identified by its ability to protect retroviruses from intramolecular integration and therefore promote …
|
View
|
| C20orf14 |
- |
|
|
The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between …
|
View
|
| NRIP1 |
- |
|
|
Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of …
|
View
|
| ITGB1BP3 |
- |
|
|
Reduces laminin matrix deposition and cell adhesion to laminin, but not to fibronectin. Involved in the regulation of PXN at …
|
View
|
| PLA2G12B |
- |
|
|
Not known; does not seem to have catalytic activity.
|
View
|
| - |
- |
|
|
-
|
View
|
| RANBP10 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| GDF8 |
- |
|
|
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. …
|
View
|
| OXR1 |
- |
|
|
-
|
View
|
| SPFH2 |
- |
|
|
-
|
View
|
| KCTD18 |
- |
|
|
-
|
View
|
| RAD52 |
- |
|
|
The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair …
|
View
|
| - |
- |
|
|
DISCONTINUED: LocusID 29001 was defined by NM_014082.2 and AF113010.1, which do not appear to represent a protein-coding gene.
|
View
|
| PRDM1 |
- |
|
|
This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the …
|
View
|
| IFNA16 |
- |
|
|
Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate …
|
View
|
| CNO |
- |
|
|
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, …
|
View
|
| SAMD9 |
- |
|
|
-
|
View
|
| CD7 |
- |
|
|
This gene encodes a transmembrane protein which is a member of the immunoglobulin superfamily. This protein is found on thymocytes …
|
View
|
| - |
- |
|
|
-
|
View
|
| CLDN11 |
- |
|
|
The protein encoded by this gene belongs to the claudin family of tight junction associated proteins and is a major …
|
View
|
| C14orf92 |
- |
|
|
-
|
View
|
| AIM1L |
- |
|
|
-
|
View
|
| FOXE3 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| LRRN5 |
- |
|
|
The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and …
|
View
|
| - |
- |
|
|
-
|
View
|
| ACSL6 |
- |
|
|
Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in …
|
View
|
| CATSPER2 |
- |
|
|
Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative …
|
View
|
| C9orf23 |
- |
|
|
This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share …
|
View
|
| - |
- |
|
|
-
|
View
|
| SYCN |
- |
|
|
-
|
View
|
| EXOSC3 |
- |
|
|
Component of the exosome 3'->5' exoribonuclease complex. Required for the 3'processing of the 7S pre-RNA to the mature 5.8S rRNA …
|
View
|
| WDR40B |
- |
|
|
-
|
View
|
| PAX2 |
- |
|
|
PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature …
|
View
|
| ATP6V1E2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MEF2A |
- |
|
|
The process of differentiation from mesodermal precursor cells to myoblasts has led to the discovery of a variety of tissue-specific …
|
View
|
| TIMM50 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SPG3A |
- |
|
|
-
|
View
|
| TDP1 |
- |
|
|
The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the …
|
View
|
| RFP2 |
- |
|
|
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three …
|
View
|
| SOD1 |
- |
|
|
The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying …
|
View
|
| DPM1 |
- |
|
|
Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack …
|
View
|
| GPR110 |
- |
|
|
Orphan receptor.
|
View
|
| MUC2 |
- |
|
|
Coats the epithelia of the intestines, airways, and other mucus membrane-containing organs. Thought to provide a protective, lubricating barrier against …
|
View
|
| C9orf157 |
- |
|
|
-
|
View
|
| NANOG |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TYRO3P |
- |
|
|
ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases …
|
View
|
| NEIL1 |
- |
|
|
NEIL1 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step …
|
View
|
| C9orf84 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NDUFS2 |
- |
|
|
Mitochondrial complex I (NADH-ubiquinone reductase; EC 1.6.5.3) is the first multimeric complex of the respiratory chain that catalyzes the NADH …
|
View
|
| PRSS15 |
- |
|
|
This gene encodes a mitochondrial matrix protein in the Lon family of ATP-dependent proteases. A similar E. coli protein regulates …
|
View
|
| - |
- |
|
|
-
|
View
|
| NDUFA6 |
- |
|
|
Transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be …
|
View
|
| LASS5 |
- |
|
|
May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved …
|
View
|
| RCHY1 |
- |
|
|
The protein encoded by this gene has ubiquitin-protein ligase activity. This protein binds with p53 and promotes the ubiquitin-mediated proteosomal …
|
View
|
| UBQLN2 |
- |
|
|
This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and …
|
View
|
| KIAA0934 |
- |
|
|
-
|
View
|
| SNRPD3 |
- |
|
|
The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA …
|
View
|
| WNT2B |
- |
|
|
This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT …
|
View
|
| MAP3K2 |
- |
|
|
The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates the kinases …
|
View
|
| ANAPC10 |
- |
|
|
Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis and the G1 …
|
View
|
| - |
- |
|
|
-
|
View
|
| AKR1B1 |
- |
|
|
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. …
|
View
|
| AVP |
- |
|
|
This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin II and a glycopeptide, copeptin. …
|
View
|
| CYBASC3 |
- |
|
|
-
|
View
|
| LUZP5 |
- |
|
|
-
|
View
|
| ARSB |
- |
|
|
Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, …
|
View
|
| SLC22A4 |
- |
|
|
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small …
|
View
|
| - |
- |
|
|
-
|
View
|
| CCL25 |
- |
|
|
This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in …
|
View
|