| ACVRL1 |
- |
|
|
Activin A receptor, type II-like 1 (also called activin receptor-like kinase 1) is a type I cell-surface receptor for the …
|
View
|
| NR1D2 |
- |
|
|
Binds to the sequences 5'-AATGTAGGTCA-3' and 5'- ATAACTAGGTCA-3'. Acts as a potent competitive repressor of ROR alpha function (By similarity).
|
View
|
| AKT3 |
- |
|
|
The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT …
|
View
|
| AGMAT |
- |
|
|
-
|
View
|
| GDNF |
- |
|
|
This gene encodes a highly conserved neurotrophic factor. The recombinant form of this protein was shown to promote the survival …
|
View
|
| SHOX2 |
- |
|
|
SHOX2 is a member of the homeo box family of genes that encode proteins containing a 60-amino acid residue motif …
|
View
|
| - |
- |
|
|
-
|
View
|
| BTRC |
- |
|
|
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, …
|
View
|
| SNAI1 |
- |
|
|
The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the …
|
View
|
| ELOVL3 |
- |
|
|
May be involved in a membrane event related to cellular proliferation in brown adipose tissue. Could be implicated in synthesis …
|
View
|
| EIF5A2 |
- |
|
|
-
|
View
|
| DBR1 |
- |
|
|
The RNA lariat debranching enzyme, or DBR1, specifically hydrolyzes 2-prime-to-5-prime branched phosphodiester bonds at the branch point of excised lariat …
|
View
|
| - |
- |
|
|
-
|
View
|
| SIX3 |
- |
|
|
May be involved in visual system development.
|
View
|
| KIAA1305 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| WRB |
- |
|
|
This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF92 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| LPXN |
- |
|
|
The product encoded by this gene is preferentially expressed in hematopoietic cells and is most homologous to the focal adhesion …
|
View
|
| ABCA8 |
- |
|
|
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins …
|
View
|
| CDRT1 |
- |
|
|
-
|
View
|
| LGALS13 |
- |
|
|
Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has …
|
View
|
| - |
- |
|
|
-
|
View
|
| MCF2L |
- |
|
|
Guanine nucleotide exchange factor that potentially links pathways that signal through RAC1, RHOA and CDC42. Catalyzes guanine nucleotide exchange on …
|
View
|
| CXorf45 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TPCN1 |
- |
|
|
-
|
View
|
| LYPLA2 |
- |
|
|
Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. There are alternatively spliced transcript variants described …
|
View
|
| MAP3K1 |
- |
|
|
MAP3K, or MEK kinase, is a serine/threonine kinase that occupies a pivotal role in a network of phosphorylating enzymes integrating …
|
View
|
| LDHB |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| POLK |
- |
|
|
-
|
View
|
| TAOK2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| EDA2R |
- |
|
|
EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in …
|
View
|
| - |
- |
|
|
-
|
View
|
| ATP6V1C2 |
- |
|
|
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase …
|
View
|
| TAS2R5 |
- |
|
|
This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor …
|
View
|
| EIF4G3 |
- |
|
|
Probable component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of …
|
View
|
| TP53I5 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ICOS |
- |
|
|
The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays …
|
View
|
| DDX17 |
- |
|
|
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number …
|
View
|
| - |
- |
|
|
-
|
View
|
| PEMT |
- |
|
|
This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. The protein localizes to …
|
View
|
| C1orf27 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C10orf65 |
- |
|
|
-
|
View
|
| TECTB |
- |
|
|
The genes for alpha-tectorin (MIM 602574) and beta-tectorin encode the major noncollagenous proteins of the tectorial membrane of the cochlea.[supplied …
|
View
|
| - |
- |
|
|
-
|
View
|
| TNRC6C |
- |
|
|
-
|
View
|
| NKX3-1 |
- |
|
|
The homeodomain-containing transcription factor NKX3A is a putative prostate tumor suppressor that is expressed in a largely prostate-specific and androgen-regulated …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| WDR50 |
- |
|
|
-
|
View
|
| ZCCHC2 |
- |
|
|
-
|
View
|
| C10orf39 |
- |
|
|
-
|
View
|
| DOCK8 |
- |
|
|
Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP (By …
|
View
|
| SCN3A |
- |
|
|
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference …
|
View
|
| FSCN2 |
- |
|
|
FSCN2, or retinal fascin, is a photoreceptor-specific paralog of the actin-bundling protein fascin (FSCN1; MIM 602689). Fascins crosslink F-actin into …
|
View
|
| GSK3A |
- |
|
|
Implicated in the hormonal control of several regulatory proteins including glycogen synthase, MYB and the transcription factor JUN (By similarity).
|
View
|
| WDR65 |
- |
|
|
-
|
View
|
| RUNX1T1 |
- |
|
|
The protein encoded by this gene is a putative zinc finger transcription factor and oncoprotein. In acute myeloid leukemia, especially …
|
View
|
| - |
- |
|
|
-
|
View
|
| EIF2C2 |
- |
|
|
This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded …
|
View
|
| - |
- |
|
|
-
|
View
|
| RPS27 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| FKBP3 |
- |
|
|
The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation …
|
View
|
| NRXN1 |
- |
|
|
Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. They …
|
View
|
| - |
- |
|
|
-
|
View
|
| IL13RA1 |
- |
|
|
The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex …
|
View
|
| C2orf33 |
- |
|
|
-
|
View
|
| CDH17 |
- |
|
|
This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting …
|
View
|
| CD97 |
- |
|
|
This gene is a founding member of the EGF-TM7 family of class II seven-span transmembrane (7-TM) molecules, likely encoded by …
|
View
|
| VWF |
- |
|
|
The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the …
|
View
|
| B3GNT6 |
- |
|
|
This gene encodes an enzyme that is a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane …
|
View
|
| - |
- |
|
|
-
|
View
|
| WDR33 |
- |
|
|
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TBX5 |
- |
|
|
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. …
|
View
|
| NUDT10 |
- |
|
|
NUDT10 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002).[supplied by OMIM]
|
View
|
| RGS20 |
- |
|
|
Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are …
|
View
|
| ZNF585A |
- |
|
|
-
|
View
|
| CHAF1B |
- |
|
|
Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of …
|
View
|
| MYBL2 |
- |
|
|
The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein …
|
View
|
| - |
- |
|
|
-
|
View
|
| FAM22F |
- |
|
|
-
|
View
|
| NCDN |
- |
|
|
This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TCEA2 |
- |
|
|
The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation …
|
View
|
| SFRS16 |
- |
|
|
Probably functions as an alternative splicing regulator. May regulate the mRNA splicing of genes such as CLK1. May act by …
|
View
|
| SH3GL2 |
- |
|
|
Plays a role in synaptic vesicle recycling, in particular in clathrin-mediated vesicle endocytosis. Exhibits lysophosphatidic acid acyltransferase activity (LPAAT).
|
View
|
| ATP5C1 |
- |
|
|
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of …
|
View
|
| ITPR1 |
- |
|
|
Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5- trisphosphate.
|
View
|
| TUBD1 |
- |
|
|
In the elongating spermatid it is associated with the manchette, a specialised microtubule system present during reshaping of the sperm …
|
View
|
| E2F6 |
- |
|
|
This gene encodes a member of the E2F transcription factor protein family. E2F family members play a crucial role in …
|
View
|
| PCBD2 |
- |
|
|
Regulates the dimerization of homeodomain protein HNF-1- alpha and enhances its transcriptional activity.
|
View
|
| GRIA1 |
- |
|
|
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal …
|
View
|
| - |
- |
|
|
-
|
View
|
| ADORA2A |
- |
|
|
This gene encodes a protein which is one of several receptor subtypes for adenosine. The activity of the encoded protein, …
|
View
|
| - |
- |
|
|
-
|
View
|
| FAM9A |
- |
|
|
-
|
View
|
| C10orf117 |
- |
|
|
-
|
View
|
| OR2S2 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| SKB1 |
- |
|
|
Methylates specific arginine residues in the small nuclear ribonucleoproteins Sm D1 and Sm D3 to monomethylarginine and to symmetrical dimethylarginines …
|
View
|
| GFRA1 |
- |
|
|
Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles …
|
View
|
| C9orf72 |
- |
|
|
-
|
View
|
| FMNL2 |
- |
|
|
This gene encodes a protein with homology to several formin-like proteins. It has no known function but may have a …
|
View
|
| CHRM3 |
- |
|
|
The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is …
|
View
|
| - |
- |
|
|
-
|
View
|
| VIP |
- |
|
|
The protein encoded by this gene belongs to the glucagon family. It stimulates myocardial contractility, causes vasodilation, increases glycogenolysis, lowers …
|
View
|
| ZBTB1 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| CTRL |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TNP1 |
- |
|
|
In the elongating spermatids of mammals, the conversion of nucleosomal chromatin to the compact, nonnucleosomal form found in the sperm …
|
View
|
| - |
- |
|
|
-
|
View
|
| GBP6 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| DKK4 |
- |
|
|
This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich …
|
View
|
| SLC4A2 |
- |
|
|
Plasma membrane anion exchange protein of wide distribution.
|
View
|
| NTSR2 |
- |
|
|
The protein encoded by this gene belongs to the G protein-coupled receptor family that activate a phosphatidylinositol-calcium second messenger system. …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| GRPEL2 |
- |
|
|
Cooperates with mitochondrial HSP70 in the import of proteins from the cytoplasm. Stimulates ATPase activity of mt- HSP70. May also …
|
View
|
| MTAP |
- |
|
|
This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of …
|
View
|
| F12 |
- |
|
|
This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to …
|
View
|
| RBM28 |
- |
|
|
-
|
View
|
| SLC16A8 |
- |
|
|
Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo …
|
View
|
| ASB4 |
- |
|
|
The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. …
|
View
|
| BRMS1 |
- |
|
|
BRMS1 is a human breast carcinoma metastasis suppressor gene that maps to 11q13, a hotspot in breast cancer progression.[supplied by …
|
View
|
| CYP2S1 |
- |
|
|
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CASR |
- |
|
|
The calcium-sensing receptor (CASR) functions as a sensor for parathyroid and kidney to determine the extracellular calcium concentration and thus …
|
View
|
| IGFBP1 |
- |
|
|
This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an …
|
View
|
| C21orf121 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| RNF11 |
- |
|
|
The protein encoded by this gene contains a RING-H2 finger motif, which is known to be important for protein-protein interactions. …
|
View
|
| MAPKAPK5 |
- |
|
|
The protein encoded by this gene is a member of the serine/threonine kinase family. In response to cellular stress and …
|
View
|
| CYP2A13 |
- |
|
|
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze …
|
View
|
| LATS1 |
- |
|
|
The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with …
|
View
|
| - |
- |
|
|
-
|
View
|
| HYI |
- |
|
|
-
|
View
|
| GSDML |
- |
|
|
-
|
View
|
| SYN2 |
- |
|
|
This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface …
|
View
|
| BCL2A1 |
- |
|
|
This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and …
|
View
|
| - |
- |
|
|
-
|
View
|
| UACA |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CHRDL2 |
- |
|
|
May inhibits BMPs activity by blocking their interaction with their receptors. Has a negative regulator effect on the cartilage formation/regeneration …
|
View
|
| ALOX12B |
- |
|
|
Converts arachidonic acid to 12R- hydroperoxyeicosatetraenoic acid (12R-HPETE).
|
View
|
| ACACB |
- |
|
|
Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA …
|
View
|
| ASPA |
- |
|
|
The ASPA gene product, aspartoacylase, catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in …
|
View
|
| DNAJC3 |
- |
|
|
The protein encoded by this gene contains multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| LYNX1 |
- |
|
|
This gene encodes a member of the Ly-6/neurotoxin gene family, a group of lymphocyte antigens that attach to the cell …
|
View
|
| ERAF |
- |
|
|
Act as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development. Specifically protects free alpha-hemoglobin …
|
View
|
| HEY2 |
- |
|
|
The HEY2 gene encodes the homolog of the zebrafish 'gridlock' gene, which is expressed in lateral plate mesoderm before vessel …
|
View
|
| OR51M1 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| CREB3L4 |
- |
|
|
-
|
View
|
| FAM49B |
- |
|
|
-
|
View
|
| CDK8 |
- |
|
|
The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are …
|
View
|
| GPR43 |
- |
|
|
-
|
View
|
| SV2A |
- |
|
|
-
|
View
|
| NALP8 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C22orf23 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TLR6 |
- |
|
|
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role …
|
View
|
| CXorf12 |
- |
|
|
This gene encodes a ubiquitously expressed protein of unknown function.
|
View
|
| AADAC |
- |
|
|
Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for …
|
View
|
| - |
- |
|
|
-
|
View
|
| TFEB |
- |
|
|
Probable transcription factor binds to the USF/MLTF site and probably recognizes E-box sequences in the heavy-chain immunoglobulin enhancer.
|
View
|
| KIAA0427 |
- |
|
|
-
|
View
|
| ARHGAP24 |
- |
|
|
-
|
View
|
| HLXB9 |
- |
|
|
-
|
View
|
| STC2 |
- |
|
|
This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine …
|
View
|
| ANP32A |
- |
|
|
Inhibitor protein of protein phosphatase 2A.
|
View
|
| C10orf62 |
- |
|
|
-
|
View
|
| FMR1 |
- |
|
|
X-linked mental retardation associated with marXq28, or fragile X syndrome, is characterized by moderate to severe mental retardation, macroorchidism, large …
|
View
|
| - |
- |
|
|
-
|
View
|
| RNASE7 |
- |
|
|
Exhibits a potent RNase activity. Has broad-spectrum antimicrobial activity against many pathogenic microorganisms and remarkably potent activity (lethal dose of …
|
View
|
| PHF20L1 |
- |
|
|
-
|
View
|
| KLHL20 |
- |
|
|
The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a …
|
View
|
| BCKDK |
- |
|
|
Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and …
|
View
|
| TMEM4 |
- |
|
|
Positive regulator of neurite outgrowth by stabilizing myosin regulatory light chain (MRLC). It prevents MIR-mediated MRLC ubiquitination and its subsequent …
|
View
|
| RAE1 |
- |
|
|
Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing …
|
View
|
| GAMT |
- |
|
|
The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. …
|
View
|
| DCTN2 |
- |
|
|
This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 …
|
View
|
| PSG2 |
- |
|
|
-
|
View
|
| MXD4 |
- |
|
|
This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that …
|
View
|
| CXCL2 |
- |
|
|
Produced by activated monocytes and neutrophils and expressed at sites of inflammation. Hematoregulatory chemokine, which, in vitro, suppresses hematopoietic progenitor …
|
View
|
| MFHAS1 |
- |
|
|
Identified in a human 8p amplicon, MASL1 is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas …
|
View
|