psui3905/ncbi_genes_summary huggingface dataset:
AMHR2, Official Symbol AMHR2provided by HGNC Official Full Name anti-Mullerian hormone receptor type 2provided by HGNC Primary source HGNC:HGNC:465 See related Ensembl:ENSG00000135409 MIM:600956; AllianceGenome:HGNC:465 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AMHR; MRII; MISR2; MISRII Summary This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009] Expression Biased expression in ovary (RPKM 12.2), adrenal (RPKM 9.0) and 3 other tissues See more Orthologs mouse all
AMIGO1, Official Symbol AMIGO1provided by HGNC Official Full Name adhesion molecule with Ig like domain 1provided by HGNC Primary source HGNC:HGNC:20824 See related Ensembl:ENSG00000181754 MIM:615689; AllianceGenome:HGNC:20824 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALI2; AMIGO; AMIGO-1 Summary Predicted to enable potassium channel regulator activity. Predicted to be involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; homophilic cell adhesion via plasma membrane adhesion molecules; and nervous system development. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in dendrite and neuronal cell body membrane. Predicted to be integral component of membrane. Predicted to colocalize with voltage-gated potassium channel complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 9.3), adrenal (RPKM 6.7) and 24 other tissues See more Orthologs mouse all
AMIGO2, Official Symbol AMIGO2provided by HGNC Official Full Name adhesion molecule with Ig like domain 2provided by HGNC Primary source HGNC:HGNC:24073 See related Ensembl:ENSG00000139211 MIM:615690; AllianceGenome:HGNC:24073 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALI1; DEGA; AMIGO-2 Summary Predicted to be involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; homophilic cell adhesion via plasma membrane adhesion molecules; and negative regulation of programmed cell death. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in nucleus and plasma membrane. Predicted to be integral component of membrane. Biomarker of gastric adenocarcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 9.4), urinary bladder (RPKM 8.8) and 23 other tissues See more Orthologs mouse all
AMIGO3, Official Symbol AMIGO3provided by HGNC Official Full Name adhesion molecule with Ig like domain 3provided by HGNC Primary source HGNC:HGNC:24075 See related Ensembl:ENSG00000176020 MIM:615691; AllianceGenome:HGNC:24075 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALI3; AMIGO-3 Summary Predicted to be involved in brain development and heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
AMMECR1, Official Symbol AMMECR1provided by HGNC Official Full Name AMMECR nuclear protein 1provided by HGNC Primary source HGNC:HGNC:467 See related Ensembl:ENSG00000101935 MIM:300195; AllianceGenome:HGNC:467 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MFHIEN; AMMERC1 Summary The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] Expression Ubiquitous expression in bone marrow (RPKM 5.1), esophagus (RPKM 4.2) and 24 other tissues See more Orthologs mouse all
AMMECR1L, Official Symbol AMMECR1Lprovided by HGNC Official Full Name AMMECR1 likeprovided by HGNC Primary source HGNC:HGNC:28658 See related Ensembl:ENSG00000144233 AllianceGenome:HGNC:28658 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 10.0), gall bladder (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
AMMECR1LP1, Official Symbol AMMECR1LP1provided by HGNC Official Full Name AMMECR1 like pseudogene 1provided by HGNC Primary source HGNC:HGNC:39809 See related Ensembl:ENSG00000233273 AllianceGenome:HGNC:39809 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AMN, Official Symbol AMNprovided by HGNC Official Full Name amnion associated transmembrane proteinprovided by HGNC Primary source HGNC:HGNC:14604 See related Ensembl:ENSG00000166126 MIM:605799; AllianceGenome:HGNC:14604 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IGS2; PRO1028; amnionless Summary The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 39.0), small intestine (RPKM 30.0) and 4 other tissues See more Orthologs mouse all
AMN1, Official Symbol AMN1provided by HGNC Official Full Name antagonist of mitotic exit network 1 homologprovided by HGNC Primary source HGNC:HGNC:27281 See related Ensembl:ENSG00000151743 AllianceGenome:HGNC:27281 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process. Predicted to be part of SCF ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 7.2), brain (RPKM 4.4) and 23 other tissues See more Orthologs mouse all
AMOT, Official Symbol AMOTprovided by HGNC Official Full Name angiomotinprovided by HGNC Primary source HGNC:HGNC:17810 See related Ensembl:ENSG00000126016 MIM:300410; AllianceGenome:HGNC:17810 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 13.4), brain (RPKM 9.3) and 21 other tissues See more Orthologs mouse all
AMOTL1, Official Symbol AMOTL1provided by HGNC Official Full Name angiomotin like 1provided by HGNC Primary source HGNC:HGNC:17811 See related Ensembl:ENSG00000166025 MIM:614657; AllianceGenome:HGNC:17811 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JEAP Summary The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in prostate (RPKM 15.5), esophagus (RPKM 14.1) and 24 other tissues See more Orthologs mouse all
AMOTL2, Official Symbol AMOTL2provided by HGNC Official Full Name angiomotin like 2provided by HGNC Primary source HGNC:HGNC:17812 See related Ensembl:ENSG00000114019 MIM:614658; AllianceGenome:HGNC:17812 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LCCP Summary Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in fat (RPKM 33.7), placenta (RPKM 20.8) and 24 other tissues See more Orthologs mouse all
AMPD1, Official Symbol AMPD1provided by HGNC Official Full Name adenosine monophosphate deaminase 1provided by HGNC Primary source HGNC:HGNC:468 See related Ensembl:ENSG00000116748 MIM:102770; AllianceGenome:HGNC:468 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MAD; MADA; MMDD Summary Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] Expression Biased expression in duodenum (RPKM 8.5), prostate (RPKM 4.6) and 8 other tissues See more Orthologs mouse all
AMPD2, Official Symbol AMPD2provided by HGNC Official Full Name adenosine monophosphate deaminase 2provided by HGNC Primary source HGNC:HGNC:469 See related Ensembl:ENSG00000116337 MIM:102771; AllianceGenome:HGNC:469 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PCH9; SPG63 Summary The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in bone marrow (RPKM 34.7), adrenal (RPKM 15.5) and 24 other tissues See more Orthologs mouse all
AMPD3, Official Symbol AMPD3provided by HGNC Official Full Name adenosine monophosphate deaminase 3provided by HGNC Primary source HGNC:HGNC:470 See related Ensembl:ENSG00000133805 MIM:102772; AllianceGenome:HGNC:470 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 15.7), appendix (RPKM 8.4) and 22 other tissues See more Orthologs mouse all
AMPH, Official Symbol AMPHprovided by HGNC Official Full Name amphiphysinprovided by HGNC Primary source HGNC:HGNC:471 See related Ensembl:ENSG00000078053 MIM:600418; AllianceGenome:HGNC:471 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AMPH1 Summary This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010] Expression Biased expression in brain (RPKM 20.2), endometrium (RPKM 1.4) and 4 other tissues See more Orthologs mouse all
AMT, Official Symbol AMTprovided by HGNC Official Full Name aminomethyltransferaseprovided by HGNC Primary source HGNC:HGNC:473 See related Ensembl:ENSG00000145020 MIM:238310; AllianceGenome:HGNC:473 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GCE; NKH; GCE2; GCST; GCVT Summary This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in kidney (RPKM 16.6), liver (RPKM 14.9) and 25 other tissues See more Orthologs mouse all
AMTN, Official Symbol AMTNprovided by HGNC Official Full Name amelotinprovided by HGNC Primary source HGNC:HGNC:33188 See related Ensembl:ENSG00000187689 MIM:610912; AllianceGenome:HGNC:33188 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AI3B; UNQ689 Summary The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008] Expression Biased expression in stomach (RPKM 3.1), prostate (RPKM 1.0) and 1 other tissue See more Orthologs mouse all
AMY1A, Official Symbol AMY1Aprovided by HGNC Official Full Name amylase alpha 1Aprovided by HGNC Primary source HGNC:HGNC:474 See related Ensembl:ENSG00000237763 MIM:104700; AllianceGenome:HGNC:474 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AMY1 Summary Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Expression Restricted expression toward salivary gland (RPKM 4834.2) See more
AMY1B, Official Symbol AMY1Bprovided by HGNC Official Full Name amylase alpha 1Bprovided by HGNC Primary source HGNC:HGNC:475 See related Ensembl:ENSG00000174876 MIM:104701; AllianceGenome:HGNC:475 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AMY1 Summary Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008] Expression Restricted expression toward salivary gland (RPKM 4863.3) See more
AMY1C, Official Symbol AMY1Cprovided by HGNC Official Full Name amylase alpha 1Cprovided by HGNC Primary source HGNC:HGNC:476 See related Ensembl:ENSG00000187733 MIM:104702; AllianceGenome:HGNC:476 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AMY1 Summary Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008] Expression Restricted expression toward salivary gland (RPKM 4629.9) See more
AMY2A, Official Symbol AMY2Aprovided by HGNC Official Full Name amylase alpha 2Aprovided by HGNC Primary source HGNC:HGNC:477 See related Ensembl:ENSG00000243480 MIM:104650; AllianceGenome:HGNC:477 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PA; AMY2 Summary This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015] Expression Restricted expression toward pancreas (RPKM 19140.7) See more Orthologs all
AMY2B, Official Symbol AMY2Bprovided by HGNC Official Full Name amylase alpha 2Bprovided by HGNC Primary source HGNC:HGNC:478 See related Ensembl:ENSG00000240038 MIM:104660; AllianceGenome:HGNC:478 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HXA; AMY2; AMY3 Summary Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013] Expression Biased expression in pancreas (RPKM 6104.1) and salivary gland (RPKM 774.6) See more Orthologs all
AMYP1, Official Symbol AMYP1provided by HGNC Official Full Name amylase alpha pseudogene 1provided by HGNC Primary source HGNC:HGNC:479 See related Ensembl:ENSG00000227408 AllianceGenome:HGNC:479 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AMY2P
AMZ1, Official Symbol AMZ1provided by HGNC Official Full Name archaelysin family metallopeptidase 1provided by HGNC Primary source HGNC:HGNC:22231 See related Ensembl:ENSG00000174945 MIM:615168; AllianceGenome:HGNC:22231 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable metal ion binding activity and metallopeptidase activity. Predicted to be involved in proteolysis. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 1.1), endometrium (RPKM 0.6) and 7 other tissues See more Orthologs mouse all
AMZ2, Official Symbol AMZ2provided by HGNC Official Full Name archaelysin family metallopeptidase 2provided by HGNC Primary source HGNC:HGNC:28041 See related Ensembl:ENSG00000196704 MIM:615169; AllianceGenome:HGNC:28041 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is a zinc metalloprotease that displays some activity against angiotensin-3. The encoded protein is inhibited by the aminopeptidase inhibitor amastatin, as well as by the general inhibitors o-phenanthroline and batimastat. Defects in this gene may be associated with lung tumorigenesis. [provided by RefSeq, Oct 2016] Expression Broad expression in testis (RPKM 44.9), brain (RPKM 18.1) and 25 other tissues See more Orthologs mouse all
AMZ2P2, Official Symbol AMZ2P2provided by HGNC Official Full Name AMZ2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:38072 See related Ensembl:ENSG00000219249 AllianceGenome:HGNC:38072 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ANAPC1, Official Symbol ANAPC1provided by HGNC Official Full Name anaphase promoting complex subunit 1provided by HGNC Primary source HGNC:HGNC:19988 See related Ensembl:ENSG00000153107 MIM:608473; AllianceGenome:HGNC:19988 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APC1; MCPR; TSG24 Summary This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in testis (RPKM 7.2), lymph node (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
ANAPC10, Official Symbol ANAPC10provided by HGNC Official Full Name anaphase promoting complex subunit 10provided by HGNC Primary source HGNC:HGNC:24077 See related Ensembl:ENSG00000164162 MIM:613745; AllianceGenome:HGNC:24077 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DOC1; APC10 Summary ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011] Expression Ubiquitous expression in testis (RPKM 2.7), thyroid (RPKM 2.0) and 25 other tissues See more Orthologs mouse all
ANAPC11, Official Symbol ANAPC11provided by HGNC Official Full Name anaphase promoting complex subunit 11provided by HGNC Primary source HGNC:HGNC:14452 See related Ensembl:ENSG00000141552 MIM:614534; AllianceGenome:HGNC:14452 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APC11; Apc11p; HSPC214 Summary Enables cullin family protein binding activity and ubiquitin-ubiquitin ligase activity. Contributes to ubiquitin-protein transferase activity. Involved in protein K11-linked ubiquitination. Located in nucleolus and nucleoplasm. Part of anaphase-promoting complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 15.1), heart (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
ANAPC13, Official Symbol ANAPC13provided by HGNC Official Full Name anaphase promoting complex subunit 13provided by HGNC Primary source HGNC:HGNC:24540 See related Ensembl:ENSG00000129055 MIM:614484; AllianceGenome:HGNC:24540 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SWM1; APC13 Summary This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008] Expression Ubiquitous expression in thyroid (RPKM 36.9), kidney (RPKM 32.9) and 25 other tissues See more Orthologs mouse all
ANAPC15, Official Symbol ANAPC15provided by HGNC Official Full Name anaphase promoting complex subunit 15provided by HGNC Primary source HGNC:HGNC:24531 See related Ensembl:ENSG00000110200 MIM:614717; AllianceGenome:HGNC:24531 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APC15; HSPC020; C11orf51 Summary Involved in regulation of mitotic cell cycle spindle assembly checkpoint. Part of anaphase-promoting complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 6.8), testis (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
ANAPC15P2, Official Symbol ANAPC15P2provided by HGNC Official Full Name ANAPC15 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54889 See related Ensembl:ENSG00000232601 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ANAPC16, Official Symbol ANAPC16provided by HGNC Official Full Name anaphase promoting complex subunit 16provided by HGNC Primary source HGNC:HGNC:26976 See related Ensembl:ENSG00000166295 MIM:613427; AllianceGenome:HGNC:26976 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MSAG; APC16; CENP-27; C10orf104; bA570G20.3 Summary Involved in protein ubiquitination. Located in cytosol and kinetochore. Part of anaphase-promoting complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 31.6), thyroid (RPKM 26.9) and 25 other tissues See more Orthologs mouse all
ANAPC1P1, Official Symbol ANAPC1P1provided by HGNC Official Full Name ANAPC1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44150 See related AllianceGenome:HGNC:44150 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in small intestine (RPKM 1.5), testis (RPKM 1.2) and 25 other tissues See more
ANAPC1P3, Official Symbol ANAPC1P3provided by HGNC Official Full Name ANAPC1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:54709 See related Ensembl:ENSG00000230395 AllianceGenome:HGNC:54709 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ANAPC1P4, Official Symbol ANAPC1P4provided by HGNC Official Full Name ANAPC1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:54710 See related Ensembl:ENSG00000234231 AllianceGenome:HGNC:54710 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in bone marrow (RPKM 16.8), spleen (RPKM 8.6) and 25 other tissues See more
ANAPC1P5, Official Symbol ANAPC1P5provided by HGNC Official Full Name ANAPC1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:54711 See related Ensembl:ENSG00000275597 AllianceGenome:HGNC:54711 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ANAPC1P6, Official Symbol ANAPC1P6provided by HGNC Official Full Name ANAPC1 pseudogene 6provided by HGNC Primary source HGNC:HGNC:54712 See related AllianceGenome:HGNC:54712 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in testis (RPKM 2.6), lymph node (RPKM 1.9) and 25 other tissues See more
ANAPC2, Official Symbol ANAPC2provided by HGNC Official Full Name anaphase promoting complex subunit 2provided by HGNC Primary source HGNC:HGNC:19989 See related Ensembl:ENSG00000176248 MIM:606946; AllianceGenome:HGNC:19989 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APC2 Summary A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 16.5), spleen (RPKM 12.2) and 25 other tissues See more Orthologs mouse all
ANAPC4, Official Symbol ANAPC4provided by HGNC Official Full Name anaphase promoting complex subunit 4provided by HGNC Primary source HGNC:HGNC:19990 See related Ensembl:ENSG00000053900 MIM:606947; AllianceGenome:HGNC:19990 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APC4 Summary A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] Expression Ubiquitous expression in endometrium (RPKM 15.3), lymph node (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
ANAPC5, Official Symbol ANAPC5provided by HGNC Official Full Name anaphase promoting complex subunit 5provided by HGNC Primary source HGNC:HGNC:15713 See related Ensembl:ENSG00000089053 MIM:606948; AllianceGenome:HGNC:15713 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APC5 Summary This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008] Expression Ubiquitous expression in lymph node (RPKM 32.0), bone marrow (RPKM 28.9) and 25 other tissues See more Orthologs mouse all
ANAPC7, Official Symbol ANAPC7provided by HGNC Official Full Name anaphase promoting complex subunit 7provided by HGNC Primary source HGNC:HGNC:17380 See related Ensembl:ENSG00000196510 MIM:606949; AllianceGenome:HGNC:17380 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APC7; FERBON Summary This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Expression Ubiquitous expression in testis (RPKM 11.7), esophagus (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
ANG, Official Symbol ANGprovided by HGNC Official Full Name angiogeninprovided by HGNC Primary source HGNC:HGNC:483 See related Ensembl:ENSG00000214274 MIM:105850; AllianceGenome:HGNC:483 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALS9; RAA1; HEL168; RNASE4; RNASE5 Summary The protein encoded by this gene is a member of the RNase A superfamily though it has relatively weak ribonucleolytic activity. This protein is a potent mediator of new blood vessel formation and thus, in addition to the name RNase5, is commonly called angiogenin. This protein induces angiogenesis after binding to actin on the surface of endothelial cells. This protein also accumulates at the nucleolus where it stimulates ribosomal transcription. Under stress conditions this protein translocates to the cytosol where it hydrolyzes cellular tRNAs and influences protein synthesis. A signal peptide is cleaved from the precursor protein to produce a mature protein which contains a nuclear localization signal, a cell binding motif, and a catalytic domain. This protein has been shown to be both neurotrophic and neuroprotective and the mature protein has antimicrobial activity against some bacteria and fungi, including S. pneumoniae and C. albicans. Due to its effect on rRNA production and angiogenesis this gene plays important roles in cell growth and tumor progression. Mutations in this gene are associated with progression of amyotrophic lateral sclerosis (ALS). This gene and the neighboring RNase4 gene share promoters and 5' exons though each gene then splices to a distinct 3' exon containing the complete coding region of each gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2020] Expression Biased expression in liver (RPKM 449.5), ovary (RPKM 29.5) and 2 other tissues See more Orthologs mouse all
ANGEL1, Official Symbol ANGEL1provided by HGNC Official Full Name angel homolog 1provided by HGNC Primary source HGNC:HGNC:19961 See related Ensembl:ENSG00000013523 MIM:619537; AllianceGenome:HGNC:19961 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Ccr4e; KIAA0759 Summary Enables eukaryotic initiation factor 4E binding activity and protein domain specific binding activity. Predicted to be involved in RNA phosphodiester bond hydrolysis, exonucleolytic. Located in several cellular components, including cis-Golgi network; endoplasmic reticulum; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 25.2), spleen (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
ANGEL2, Official Symbol ANGEL2provided by HGNC Official Full Name angel homolog 2provided by HGNC Primary source HGNC:HGNC:30534 See related Ensembl:ENSG00000174606 MIM:619001; AllianceGenome:HGNC:30534 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Ccr4d; KIAA0759L Summary Enables mRNA 3'-UTR binding activity. Involved in 3'-UTR-mediated mRNA stabilization and negative regulation of mitotic cell cycle. Located in Cajal body and cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 5.6), lymph node (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
ANGPT1, Official Symbol ANGPT1provided by HGNC Official Full Name angiopoietin 1provided by HGNC Primary source HGNC:HGNC:484 See related Ensembl:ENSG00000154188 MIM:601667; AllianceGenome:HGNC:484 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AGP1; AGPT; ANG1; HAE5; AGPT-1 Summary This gene encodes a secreted glycoprotein that belongs to the angiopoietin family. Members of this family play important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Mutations in this gene are associated with hereditary angioedema. [provided by RefSeq, Aug 2020] Expression Broad expression in fat (RPKM 19.0), lung (RPKM 14.2) and 20 other tissues See more Orthologs mouse all
ANGPT2, Official Symbol ANGPT2provided by HGNC Official Full Name angiopoietin 2provided by HGNC Primary source HGNC:HGNC:485 See related Ensembl:ENSG00000091879 MIM:601922; AllianceGenome:HGNC:485 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ANG2; AGPT2; LMPHM10 Summary This gene belongs to the angiopoietin family of growth factors. The protein encoded by this gene is an antagonist of angiopoietin 1, and both angiopoietin 1 and angiopoietin 2 are ligands for the endothelial TEK receptor tyrosine kinase. Angiopoietin 2 is upregulated in multiple inflammatory diseases and is implicated in the direct control of inflammation-related signaling pathways. The encoded protein affects angiogenesis during embryogenesis and tumorigenesis, disrupts the vascular remodeling ability of angiopoietin 1, and may induce endothelial cell apoptosis. This gene serves a prognostic biomarker for acute respiratory distress syndrome. [provided by RefSeq, Aug 2020] Expression Broad expression in placenta (RPKM 6.2), urinary bladder (RPKM 5.1) and 19 other tissues See more Orthologs mouse all
ANGPT4, Official Symbol ANGPT4provided by HGNC Official Full Name angiopoietin 4provided by HGNC Primary source HGNC:HGNC:487 See related Ensembl:ENSG00000101280 MIM:603705; AllianceGenome:HGNC:487 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ANG3; ANG4 Summary Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The mechanism by which they contribute to angiogenesis is thought to involve regulation of endothelial cell interactions with supporting perivascular cells. The protein encoded by this gene functions as an agonist and is an angiopoietin. [provided by RefSeq, Jul 2008] Expression Biased expression in fat (RPKM 1.7), ovary (RPKM 1.2) and 11 other tissues See more Orthologs mouse all
ANGPTL1, Official Symbol ANGPTL1provided by HGNC Official Full Name angiopoietin like 1provided by HGNC Primary source HGNC:HGNC:489 See related Ensembl:ENSG00000116194 MIM:603874; AllianceGenome:HGNC:489 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ANG3; ARP1; AngY; ANGPT3; UNQ162; dJ595C2.2 Summary Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 20.0), placenta (RPKM 16.0) and 21 other tissues See more Orthologs mouse all