| - |
- |
|
|
-
|
View
|
| THAP4 |
- |
|
|
-
|
View
|
| PAQR5 |
- |
|
|
Steroid membrane receptor. Binds progesterone. May be involved in oocyte maturation.
|
View
|
| - |
- |
|
|
When transfected into cell lines in which it is not expressed, suppresses cell growth. May play a role in tumor …
|
View
|
| - |
- |
|
|
-
|
View
|
| MAD1L1 |
- |
|
|
MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly …
|
View
|
| - |
- |
|
|
-
|
View
|
| KAZALD1 |
- |
|
|
Involved in the proliferation of osteoblasts during bone formation and bone regeneration (By similarity).
|
View
|
| - |
- |
|
|
TIP39 is related to parathyroid hormone (PTH; MIM 168450) and PTH-related protein (PTHRP; MIM 168470) and is a ligand for …
|
View
|
| CDCP1 |
- |
|
|
The protein encoded by this gene is a transmembrane protein containing three extracellular CUB domains. This protein is found to …
|
View
|
| PARD6A |
- |
|
|
Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. …
|
View
|
| ACTG1 |
- |
|
|
Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In …
|
View
|
| KIAA1600 |
- |
|
|
-
|
View
|
| MRPL10 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| MCOLN3 |
- |
|
|
Mucolipins constitute a family of cation channel proteins with homologs in mouse, Drosophila, and C. elegans. Mutations in the human …
|
View
|
| - |
- |
|
|
-
|
View
|
| CCNL2 |
- |
|
|
-
|
View
|
| ABHD6 |
- |
|
|
-
|
View
|
| SLC35E4 |
- |
|
|
-
|
View
|
| FBXO22 |
- |
|
|
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| OSBPL8 |
- |
|
|
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, …
|
View
|
| MRPS5 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| HAO2 |
- |
|
|
This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid …
|
View
|
| UHMK1 |
- |
|
|
Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved …
|
View
|
| YWHAB |
- |
|
|
This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding …
|
View
|
| ZBTB10 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| DMRT1 |
- |
|
|
This gene is found in a cluster with two other members of the gene family, having in common a zinc …
|
View
|
| - |
- |
|
|
-
|
View
|
| UBE2L3 |
- |
|
|
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination …
|
View
|
| - |
- |
|
|
-
|
View
|
| FAM58A |
- |
|
|
-
|
View
|
| CNDP1 |
- |
|
|
This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is …
|
View
|
| LIPI |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| LZIC |
- |
|
|
-
|
View
|
| GPR37 |
- |
|
|
Orphan receptor.
|
View
|
| - |
- |
|
|
-
|
View
|
| ARX |
- |
|
|
This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless …
|
View
|
| FAIM2 |
- |
|
|
Protects cells uniquely from Fas-induced apoptosis.
|
View
|
| SULT1C1 |
- |
|
|
Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in …
|
View
|
| RNF20 |
- |
|
|
The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. Yeast BRE1 is a ubiquitin ligase required …
|
View
|
| - |
- |
|
|
-
|
View
|
| C1orf56 |
- |
|
|
-
|
View
|
| REL |
- |
|
|
Proto-oncogene that may play a role in differentiation and lymphopoiesis. May function as a transcriptional transactivator.
|
View
|
| - |
- |
|
|
-
|
View
|
| PRG1 |
- |
|
|
This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of …
|
View
|
| ZNF212 |
- |
|
|
This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and …
|
View
|
| PARP16 |
- |
|
|
-
|
View
|
| HAS3 |
- |
|
|
The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which …
|
View
|
| - |
- |
|
|
-
|
View
|
| EHD3 |
- |
|
|
-
|
View
|
| TRIM3 |
- |
|
|
The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the 'RING-B-box-coiled-coil' (RBCC) …
|
View
|
| - |
- |
|
|
-
|
View
|
| LIFR |
- |
|
|
The leukemia inhibitory factor is a polyfunctional cytokine that affects the differentiation, survival, and proliferation of a wide variety of …
|
View
|
| MIF |
- |
|
|
This gene encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It plays a role in the regulation of …
|
View
|
| HIST1H2BD |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist …
|
View
|
| - |
- |
|
|
-
|
View
|
| PARP2 |
- |
|
|
This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This …
|
View
|
| LIX1L |
- |
|
|
-
|
View
|
| SNAPC2 |
- |
|
|
Complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence …
|
View
|
| NME3 |
- |
|
|
Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP …
|
View
|
| ADRM1 |
- |
|
|
The protein encoded by this gene is an integral plasma membrane protein which promotes cell adhesion. The encoded protein is …
|
View
|
| - |
- |
|
|
-
|
View
|
| C20orf165 |
- |
|
|
-
|
View
|
| ADAM2 |
- |
|
|
This gene encodes a disintegrin and metalloprotease (ADAM) domain 2, which is a member of the ADAM protein family. Members …
|
View
|
| OVOL1 |
- |
|
|
This gene encodes a protein highly similar to Drosophila and mouse proteins. In Drosophila the ovo protein plays a critical …
|
View
|
| ACRV1 |
- |
|
|
This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and …
|
View
|
| RCL1 |
- |
|
|
Does not have cyclase activity. Plays a role in 40S- ribosomal-subunit biogenesis in the early pre-rRNA processing steps at sites …
|
View
|
| CSTA |
- |
|
|
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NPHP4 |
- |
|
|
This gene encodes a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and …
|
View
|
| CCT5 |
- |
|
|
This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the …
|
View
|
| WFDC2 |
- |
|
|
This gene generates 5 alternatively spliced transcript variants, which encode 5 different protein isoforms. These isoforms contain one or two …
|
View
|
| - |
- |
|
|
-
|
View
|
| SETDB2 |
- |
|
|
Proteins that contain a SET domain, such as SETDB2, modulate gene expression epigenetically through histone H3 (see MIM 601128) methylation. …
|
View
|
| TWIST1 |
- |
|
|
Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene …
|
View
|
| CLIC1 |
- |
|
|
Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial …
|
View
|
| - |
- |
|
|
-
|
View
|
| PSME2 |
- |
|
|
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core …
|
View
|
| - |
- |
|
|
-
|
View
|
| CHRNA4 |
- |
|
|
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at …
|
View
|
| PAPD5 |
- |
|
|
DNA polymerase, probably involved in DNA repair. May play a role in sister chromatid cohesion (By similarity).
|
View
|
| SSX3 |
- |
|
|
The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins …
|
View
|
| - |
- |
|
|
-
|
View
|
| CCL11 |
- |
|
|
This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a …
|
View
|
| - |
- |
|
|
-
|
View
|
| IBSP |
- |
|
|
The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of …
|
View
|
| EML5 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| IMMT |
- |
|
|
-
|
View
|
| RBM11 |
- |
|
|
-
|
View
|
| IGHM |
- |
|
|
-
|
View
|
| LRDD |
- |
|
|
The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to …
|
View
|
| UBE1 |
- |
|
|
The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This …
|
View
|
| - |
- |
|
|
-
|
View
|
| BPGM |
- |
|
|
Plays a major role in regulating hemoglobin oxygen affinity as a consequence of controlling 2,3-BPG concentration. Can also catalyze the …
|
View
|
| DO |
- |
|
|
This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family …
|
View
|
| SPATA5L1 |
- |
|
|
-
|
View
|
| RAB39 |
- |
|
|
May be involved in vesicular trafficking.
|
View
|
| WDR24 |
- |
|
|
-
|
View
|
| TUSC2 |
- |
|
|
This gene is a highly conserved lung cancer candidate gene. No other information about this gene is currently available.
|
View
|
| COX7AP2 |
- |
|
|
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c …
|
View
|
| - |
- |
|
|
Ataxin-2 binding protein 1 has an RNP motif that is highly conserved among RNA-binding proteins. This protein binds to the …
|
View
|
| RALGDS |
- |
|
|
Stimulates the dissociation of GDP from the Ras-related RalA and RalB GTPases which allows GTP binding and activation of the …
|
View
|
| THRAP2 |
- |
|
|
The evolutionarily conserved THRAP genes encode a family of proteins that regulate embryonic development. THRAP2 is involved in early development …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| LIG3 |
- |
|
|
Eukaryotes, in contrast to prokaryotes, contain more than one DNA ligase, and these enzymes have distinct roles in DNA metabolism. …
|
View
|
| GPR126 |
- |
|
|
Orphan receptor.
|
View
|
| C14orf109 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C20orf65 |
- |
|
|
-
|
View
|
| CLDN16 |
- |
|
|
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and …
|
View
|
| - |
- |
|
|
-
|
View
|
| PROL1 |
- |
|
|
-
|
View
|
| BRCTD1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF225 |
- |
|
|
May function as a transcription factor.
|
View
|
| SLC12A7 |
- |
|
|
Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May mediate K(+) uptake into Deiters' cells in the cochlea and …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TAF1C |
- |
|
|
Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and …
|
View
|
| SLC39A10 |
- |
|
|
Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, …
|
View
|
| FGFR1OP2 |
- |
|
|
-
|
View
|
| AQP8 |
- |
|
|
Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZSCAN2 |
- |
|
|
The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory …
|
View
|
| - |
- |
|
|
-
|
View
|
| SLCO3A1 |
- |
|
|
Mediates the Na(+)-independent transport of organic anions such as estrone-3-sulfate.
|
View
|
| ZNF12 |
- |
|
|
May function as a transcription factor.
|
View
|
| HDGF |
- |
|
|
Heparin-binding protein, with mitogenic activity for fibroblasts.
|
View
|
| MRPS36 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome …
|
View
|
| STK17B |
- |
|
|
Acts as a positive regulator of apoptosis.
|
View
|
| ZNF281 |
- |
|
|
Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin and ornithine decarboxylase. Binds to the …
|
View
|
| GEMIN5 |
- |
|
|
GEMIN5 is part of a large macromolecular complex localized to both the cytoplasm and the nucleus that plays a role …
|
View
|
| PDZRN3 |
- |
|
|
-
|
View
|
| NCAM2 |
- |
|
|
The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may …
|
View
|
| ZNF306 |
- |
|
|
May function as a transcription factor.
|
View
|
| - |
- |
|
|
-
|
View
|
| TRPM6 |
- |
|
|
Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in …
|
View
|
| IGJ |
- |
|
|
-
|
View
|
| SIRT2 |
- |
|
|
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the …
|
View
|
| RGN |
- |
|
|
The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and …
|
View
|
| RAP1A |
- |
|
|
The product of this gene belongs to the family of RAS-related proteins. These proteins share approximately 50% amino acid identity …
|
View
|
| - |
- |
|
|
-
|
View
|
| VTN |
- |
|
|
The protein encoded by this gene is a member of the pexin family. It is found in serum and tissues …
|
View
|
| PEX3 |
- |
|
|
Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for …
|
View
|
| PPP1R12C |
- |
|
|
-
|
View
|
| SLC2A12 |
- |
|
|
-
|
View
|
| CASP3 |
- |
|
|
This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases …
|
View
|
| FLT3LG |
- |
|
|
Stimulates the proliferation of early hematopoietic cells. Synergizes well with a number of other colony stimulating factors and interleukins.
|
View
|
| - |
- |
|
|
-
|
View
|
| RPL27A |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| - |
- |
|
|
Required for 60S ribosomal subunit biogenesis (By similarity).
|
View
|
| LY6G6C |
- |
|
|
-
|
View
|
| HBQ1 |
- |
|
|
Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 …
|
View
|
| KIAA0423 |
- |
|
|
-
|
View
|
| TTLL4 |
- |
|
|
-
|
View
|
| HAVCR2 |
- |
|
|
CD4 (MIM 186940)-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of …
|
View
|
| AMMECR1 |
- |
|
|
-
|
View
|
| RNF138 |
- |
|
|
The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins …
|
View
|
| RNF31 |
- |
|
|
The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins …
|
View
|
| - |
- |
|
|
-
|
View
|
| UNG |
- |
|
|
This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating …
|
View
|
| PLEKHA9 |
- |
|
|
-
|
View
|
| ARFGEF2 |
- |
|
|
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in …
|
View
|
| ATP1A3 |
- |
|
|
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of …
|
View
|
| BLZF1 |
- |
|
|
Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the …
|
View
|
| PTEN |
- |
|
|
This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. …
|
View
|
| PPP1R10 |
- |
|
|
This gene encodes a protein with similarity to a rat protein that has an inhibitory effect on protein phosphatase-1 (PP1). …
|
View
|
| - |
- |
|
|
-
|
View
|
| TMEM29 |
- |
|
|
-
|
View
|
| RDX |
- |
|
|
Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar …
|
View
|
| TAGLN2 |
- |
|
|
The protein encoded by this gene is a homolog of the protein transgelin, which is one of the earliest markers …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZDHHC4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MBTPS2 |
- |
|
|
Intramembrane proteolysis of sterol-regulatory element- binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a …
|
View
|
| DTNA |
- |
|
|
The protein encoded by this gene belongs to the dystrobrevin subfamily and the dystrophin family. This protein is a component …
|
View
|
| ZP2 |
- |
|
|
The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three …
|
View
|
| ADAR |
- |
|
|
This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double stranded RNA …
|
View
|
| PNPLA4 |
- |
|
|
-
|
View
|
| PAK4 |
- |
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PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that …
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| SIX4 |
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| RGS17 |
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This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid …
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| PRDM2 |
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This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that …
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| SLC7A8 |
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Sodium-independent, high-affinity transport of large neutral amino acids. Has higher affinity for L-phenylalanine that lat1. L-alanine is transported at physiological …
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| THOC3 |
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TEX1 is part of the TREX (transcription/export) complex, which includes THO2 (MIM 300395), HPR1 (MIM 606930), ALY (MIM 604171), and …
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| PDE3A |
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Hydrolyzes both cyclic AMP (cAMP) and cyclic GMP (cGMP) (By similarity).
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