psui3905/ncbi_genes_summary huggingface dataset:
ALKBH1, Official Symbol ALKBH1provided by HGNC Official Full Name alkB homolog 1, histone H2A dioxygenaseprovided by HGNC Primary source HGNC:HGNC:17911 See related Ensembl:ENSG00000100601 MIM:605345; AllianceGenome:HGNC:17911 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 ABH; ABH1; alkB; hABH; ALKBH Summary This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 4.0), thyroid (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
ALKBH2, Official Symbol ALKBH2provided by HGNC Official Full Name alkB homolog 2, alpha-ketoglutarate dependent dioxygenaseprovided by HGNC Primary source HGNC:HGNC:32487 See related Ensembl:ENSG00000189046 MIM:610602; AllianceGenome:HGNC:32487 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 ABH2 Summary The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in ovary (RPKM 6.9), endometrium (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
ALKBH3, Official Symbol ALKBH3provided by HGNC Official Full Name alkB homolog 3, alpha-ketoglutarate dependent dioxygenaseprovided by HGNC Primary source HGNC:HGNC:30141 See related Ensembl:ENSG00000166199 MIM:610603; AllianceGenome:HGNC:30141 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 ABH3; PCA1; DEPC1; hABH3; DEPC-1 Summary The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 6.9), prostate (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
ALKBH3-AS1, Official Symbol ALKBH3-AS1provided by HGNC Official Full Name ALKBH3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48670 See related Ensembl:ENSG00000244926 AllianceGenome:HGNC:48670 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in testis (RPKM 2.8) and skin (RPKM 0.1) See more
ALKBH4, Official Symbol ALKBH4provided by HGNC Official Full Name alkB homolog 4, lysine demethylaseprovided by HGNC Primary source HGNC:HGNC:21900 See related Ensembl:ENSG00000160993 MIM:613302; AllianceGenome:HGNC:21900 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 ABH4 Summary Enables 2-oxoglutarate-dependent dioxygenase activity and actin binding activity. Involved in actomyosin structure organization; cleavage furrow ingression; and protein demethylation. Located in contractile ring and midbody. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 3.1), spleen (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
ALKBH5, Official Symbol ALKBH5provided by HGNC Official Full Name alkB homolog 5, RNA demethylaseprovided by HGNC Primary source HGNC:HGNC:25996 See related Ensembl:ENSG00000091542 MIM:613303; AllianceGenome:HGNC:25996 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 ABH5; OFOXD; OFOXD1 Summary Enables mRNA N6-methyladenosine dioxygenase activity. Involved in RNA metabolic process; mRNA export from nucleus; and response to hypoxia. Located in Golgi apparatus; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 46.1), heart (RPKM 30.6) and 25 other tissues See more Orthologs mouse all
ALKBH6, Official Symbol ALKBH6provided by HGNC Official Full Name alkB homolog 6provided by HGNC Primary source HGNC:HGNC:28243 See related Ensembl:ENSG00000239382 MIM:613304; AllianceGenome:HGNC:28243 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 ABH6 Summary Predicted to enable dioxygenase activity and metal ion binding activity. Located in focal adhesion and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 5.2), spleen (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
ALKBH7, Official Symbol ALKBH7provided by HGNC Official Full Name alkB homolog 7provided by HGNC Primary source HGNC:HGNC:21306 See related Ensembl:ENSG00000125652 MIM:613305; AllianceGenome:HGNC:21306 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 ABH7; SPATA11; UNQ6002 Summary Predicted to enable dioxygenase activity and metal ion binding activity. Involved in cellular response to DNA damage stimulus and regulation of mitochondrial membrane permeability involved in programmed necrotic cell death. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 38.0), kidney (RPKM 14.9) and 24 other tissues See more Orthologs mouse all
ALKBH8, Official Symbol ALKBH8provided by HGNC Official Full Name alkB homolog 8, tRNA methyltransferaseprovided by HGNC Primary source HGNC:HGNC:25189 See related Ensembl:ENSG00000137760 MIM:613306; AllianceGenome:HGNC:25189 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 ABH8; TRM9; MRT71; TRMT9; TRMT9A Summary Enables tRNA (uracil) methyltransferase activity; tRNA binding activity; and zinc ion binding activity. Involved in cellular response to DNA damage stimulus; tRNA methylation; and tRNA wobble uridine modification. Located in cytosol and nuclear body. Implicated in autosomal recessive non-syndromic intellectual disability. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 3.3), lymph node (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
ALLC, Official Symbol ALLCprovided by HGNC Official Full Name allantoicaseprovided by HGNC Primary source HGNC:HGNC:17377 See related Ensembl:ENSG00000151360 MIM:612396; AllianceGenome:HGNC:17377 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 ALC Summary Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008] Expression Restricted expression toward testis (RPKM 2.0) See more Orthologs mouse all
ALMS1, Official Symbol ALMS1provided by HGNC Official Full Name ALMS1 centrosome and basal body associated proteinprovided by HGNC Primary source HGNC:HGNC:428 See related Ensembl:ENSG00000116127 MIM:606844; AllianceGenome:HGNC:428 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 ALSS Summary This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014] Annotation information Annotation category: suggests misassembly Expression Broad expression in testis (RPKM 15.5), ovary (RPKM 5.0) and 21 other tissues See more Orthologs mouse all
ALMS1-IT1, Official Symbol ALMS1-IT1provided by HGNC Official Full Name ALMS1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41305 See related Ensembl:ENSG00000230002 AllianceGenome:HGNC:41305 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in bone marrow (RPKM 2.2), testis (RPKM 0.3) and 5 other tissues See more
ALOX12, Official Symbol ALOX12provided by HGNC Official Full Name arachidonate 12-lipoxygenase, 12S typeprovided by HGNC Primary source HGNC:HGNC:429 See related Ensembl:ENSG00000108839 MIM:152391; AllianceGenome:HGNC:429 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 LOG12; 12-LOX; 12S-LOX Summary This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017] Expression Broad expression in esophagus (RPKM 11.1), skin (RPKM 5.2) and 15 other tissues See more Orthologs mouse all
ALOX12-AS1, Official Symbol ALOX12-AS1provided by HGNC Official Full Name ALOX12 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51342 See related Ensembl:ENSG00000215067 AllianceGenome:HGNC:51342 Gene type ncRNA 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 esophagus (RPKM 3.6), brain (RPKM 2.4) and 24 other tissues See more
ALOX12B, Official Symbol ALOX12Bprovided by HGNC Official Full Name arachidonate 12-lipoxygenase, 12R typeprovided by HGNC Primary source HGNC:HGNC:430 See related Ensembl:ENSG00000179477 MIM:603741; AllianceGenome:HGNC:430 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 ARCI2; 12R-LOX Summary This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015] Expression Biased expression in skin (RPKM 26.9) and esophagus (RPKM 2.9) See more Orthologs mouse all
ALOX12P1, Official Symbol ALOX12P1provided by HGNC Official Full Name arachidonate 12-lipoxygenase pseudogene 1provided by HGNC Primary source HGNC:HGNC:431 See related AllianceGenome:HGNC:431 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 ALOX12P
ALOX15, Official Symbol ALOX15provided by HGNC Official Full Name arachidonate 15-lipoxygenaseprovided by HGNC Primary source HGNC:HGNC:433 See related Ensembl:ENSG00000161905 MIM:152392; AllianceGenome:HGNC:433 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 LOG15; 12-LOX; 15-LOX; 15-LOX-1 Summary This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on various polyunsaturated fatty acid substrates to generate various bioactive lipid mediators such as eicosanoids, hepoxilins, lipoxins, and other molecules. The encoded enzyme and its reaction products have been shown to regulate inflammation and immunity. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017] Expression Biased expression in lung (RPKM 5.0), small intestine (RPKM 1.7) and 11 other tissues See more Orthologs all
ALOX15B, Official Symbol ALOX15Bprovided by HGNC Official Full Name arachidonate 15-lipoxygenase type Bprovided by HGNC Primary source HGNC:HGNC:434 See related Ensembl:ENSG00000179593 MIM:603697; AllianceGenome:HGNC:434 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 15-LOX-2 Summary This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 42.3), esophagus (RPKM 13.5) and 2 other tissues See more Orthologs mouse all
ALOX15P2, Official Symbol ALOX15P2provided by HGNC Official Full Name arachidonate 15-lipoxygenase pseudogene 2provided by HGNC Primary source HGNC:HGNC:39027 See related Ensembl:ENSG00000188101 AllianceGenome:HGNC:39027 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ALOX5, Official Symbol ALOX5provided by HGNC Official Full Name arachidonate 5-lipoxygenaseprovided by HGNC Primary source HGNC:HGNC:435 See related Ensembl:ENSG00000012779 MIM:152390; AllianceGenome:HGNC:435 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 5-LO; 5LPG; LOG5; 5-LOX Summary This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in bone marrow (RPKM 35.1), lung (RPKM 26.8) and 15 other tissues See more Orthologs mouse all
ALOX5AP, Official Symbol ALOX5APprovided by HGNC Official Full Name arachidonate 5-lipoxygenase activating proteinprovided by HGNC Primary source HGNC:HGNC:436 See related Ensembl:ENSG00000132965 MIM:603700; AllianceGenome:HGNC:436 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 FLAP Summary This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011] Expression Broad expression in bone marrow (RPKM 94.5), lung (RPKM 39.9) and 14 other tissues See more Orthologs mouse all
ALOXE3, Official Symbol ALOXE3provided by HGNC Official Full Name arachidonate lipoxygenase 3provided by HGNC Primary source HGNC:HGNC:13743 See related Ensembl:ENSG00000179148 MIM:607206; AllianceGenome:HGNC:13743 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 LI5; ARCI3; E-LOX; eLOX3; eLOX-3 Summary This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Expression Restricted expression toward skin (RPKM 14.1) See more Orthologs mouse all
ALPG, Official Symbol ALPGprovided by HGNC Official Full Name alkaline phosphatase, germ cellprovided by HGNC Primary source HGNC:HGNC:441 See related Ensembl:ENSG00000163286 MIM:171810; AllianceGenome:HGNC:441 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 GCAP; ALPPL; ALPPL2 Summary There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 6.1), lung (RPKM 0.8) and 1 other tissue See more Orthologs all
ALPI, Official Symbol ALPIprovided by HGNC Official Full Name alkaline phosphatase, intestinalprovided by HGNC Primary source HGNC:HGNC:437 See related Ensembl:ENSG00000163295 MIM:171740; AllianceGenome:HGNC:437 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 IAP Summary There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014] Expression Biased expression in duodenum (RPKM 85.5), small intestine (RPKM 83.4) and 1 other tissue See more Orthologs mouse all
ALPK1, Official Symbol ALPK1provided by HGNC Official Full Name alpha kinase 1provided by HGNC Primary source HGNC:HGNC:20917 See related Ensembl:ENSG00000073331 MIM:607347; AllianceGenome:HGNC:20917 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 LAK; ROSAH; 8430410J10Rik Summary This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in bone marrow (RPKM 3.8), skin (RPKM 2.4) and 24 other tissues See more Orthologs mouse all
ALPK2, Official Symbol ALPK2provided by HGNC Official Full Name alpha kinase 2provided by HGNC Primary source HGNC:HGNC:20565 See related Ensembl:ENSG00000198796 MIM:619965; AllianceGenome:HGNC:20565 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 HAK Summary Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Involved in several processes, including epicardium morphogenesis; heart development; and negative regulation of Wnt signaling pathway involved in heart development. Acts upstream of or within regulation of gene expression. Colocalizes with basolateral plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 9.8), lymph node (RPKM 2.0) and 4 other tissues See more Orthologs mouse all
ALPK3, Official Symbol ALPK3provided by HGNC Official Full Name alpha kinase 3provided by HGNC Primary source HGNC:HGNC:17574 See related Ensembl:ENSG00000136383 MIM:617608; AllianceGenome:HGNC:17574 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 MAK; CMH27; MIDORI Summary Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in cardiac muscle cell development. Predicted to be active in nucleus. Implicated in hypertrophic cardiomyopathy. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 20.7), fat (RPKM 9.4) and 9 other tissues See more Orthologs mouse all
ALPL, Official Symbol ALPLprovided by HGNC Official Full Name alkaline phosphatase, biomineralization associatedprovided by HGNC Primary source HGNC:HGNC:438 See related Ensembl:ENSG00000162551 MIM:171760; AllianceGenome:HGNC:438 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 HOPS; HPPA; HPPC; HPPI; HPPO; TNAP; TNALP; APTNAP; TNSALP; AP-TNAP; TNS-ALP Summary This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015] Expression Broad expression in kidney (RPKM 33.8), lung (RPKM 30.4) and 14 other tissues See more Orthologs mouse all
ALPP, Official Symbol ALPPprovided by HGNC Official Full Name alkaline phosphatase, placentalprovided by HGNC Primary source HGNC:HGNC:439 See related Ensembl:ENSG00000163283 MIM:171800; AllianceGenome:HGNC:439 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 ALP; IAP; ALPI; PALP; PLAP; PLAP-1 Summary The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. One of the main sources of this enzyme is the liver, and thus, it's one of several indicators of liver injury in different clinical conditions. In pregnant women, this protein is primarily expressed in placental and endometrial tissue, however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process. Expression Restricted expression toward placenta (RPKM 36.6) See more Orthologs all
ALS2, Official Symbol ALS2provided by HGNC Official Full Name alsin Rho guanine nucleotide exchange factor ALS2provided by HGNC Primary source HGNC:HGNC:443 See related Ensembl:ENSG00000003393 MIM:606352; AllianceGenome:HGNC:443 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 ALSJ; PLSJ; IAHSP; ALS2CR6 Summary The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in heart (RPKM 4.3), brain (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
ALS2CL, Official Symbol ALS2CLprovided by HGNC Official Full Name ALS2 C-terminal likeprovided by HGNC Primary source HGNC:HGNC:20605 See related Ensembl:ENSG00000178038 MIM:612402; AllianceGenome:HGNC:20605 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 RN49018 Summary Enables identical protein binding activity. Acts upstream of or within endosome organization. Predicted to be located in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 30.9), esophagus (RPKM 10.4) and 18 other tissues See more Orthologs mouse all
ALX1, Official Symbol ALX1provided by HGNC Official Full Name ALX homeobox 1provided by HGNC Primary source HGNC:HGNC:1494 See related Ensembl:ENSG00000180318 MIM:601527; AllianceGenome:HGNC:1494 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 FND3; CART1; HEL23 Summary The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 1.7), ovary (RPKM 0.6) and 5 other tissues See more Orthologs mouse all
ALX3, Official Symbol ALX3provided by HGNC Official Full Name ALX homeobox 3provided by HGNC Primary source HGNC:HGNC:449 See related Ensembl:ENSG00000156150 MIM:606014; AllianceGenome:HGNC:449 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 FND; FND1 Summary This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 1.8), endometrium (RPKM 1.4) and 24 other tissues See more Orthologs mouse all
ALX4, Official Symbol ALX4provided by HGNC Official Full Name ALX homeobox 4provided by HGNC Primary source HGNC:HGNC:450 See related Ensembl:ENSG00000052850 MIM:605420; AllianceGenome:HGNC:450 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 CRS5; FND2 Summary This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
ALYREF, Official Symbol ALYREFprovided by HGNC Official Full Name Aly/REF export factorprovided by HGNC Primary source HGNC:HGNC:19071 See related Ensembl:ENSG00000183684 MIM:604171; AllianceGenome:HGNC:19071 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 ALY; BEF; REF; THOC4; ALY/REF Summary The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 44.1), testis (RPKM 33.0) and 25 other tissues See more Orthologs mouse all
AMACR, Official Symbol AMACRprovided by HGNC Official Full Name alpha-methylacyl-CoA racemaseprovided by HGNC Primary source HGNC:HGNC:451 See related Ensembl:ENSG00000242110 MIM:604489; AllianceGenome:HGNC:451 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 RM; RACE; CBAS4; P504S; AMACRD Summary This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011] Expression Broad expression in kidney (RPKM 38.3), liver (RPKM 31.1) and 22 other tissues See more Orthologs mouse all
AMBN, Official Symbol AMBNprovided by HGNC Official Full Name ameloblastinprovided by HGNC Primary source HGNC:HGNC:452 See related Ensembl:ENSG00000178522 MIM:601259; AllianceGenome:HGNC:452 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 AI1F Summary This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
AMBP, Official Symbol AMBPprovided by HGNC Official Full Name alpha-1-microglobulin/bikunin precursorprovided by HGNC Primary source HGNC:HGNC:453 See related Ensembl:ENSG00000106927 MIM:176870; AllianceGenome:HGNC:453 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 A1M; HCP; ITI; UTI; EDC1; HI30; ITIL; IATIL; ITILC Summary This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008] Expression Restricted expression toward liver (RPKM 2536.6) See more Orthologs mouse all
AMBRA1, Official Symbol AMBRA1provided by HGNC Official Full Name autophagy and beclin 1 regulator 1provided by HGNC Primary source HGNC:HGNC:25990 See related Ensembl:ENSG00000110497 MIM:611359; AllianceGenome:HGNC:25990 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 DCAF3; WDR94 Summary Enables GTPase binding activity and ubiquitin protein ligase binding activity. Involved in macroautophagy; positive regulation of phosphatidylinositol 3-kinase activity; and response to mitochondrial depolarisation. Located in cytosol. Colocalizes with mitochondrion. Biomarker of multiple system atrophy. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 5.9), brain (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
AMD1, Official Symbol AMD1provided by HGNC Official Full Name adenosylmethionine decarboxylase 1provided by HGNC Primary source HGNC:HGNC:457 See related Ensembl:ENSG00000123505 MIM:180980; AllianceGenome:HGNC:457 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 AMD; SAMDC; ADOMETDC Summary This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in prostate (RPKM 106.1), bone marrow (RPKM 38.6) and 25 other tissues See more Orthologs mouse all
AMD1P1, Official Symbol AMD1P1provided by HGNC Official Full Name adenosylmethionine decarboxylase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44898 See related Ensembl:ENSG00000228339 AllianceGenome:HGNC:44898 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AMDHD1, Official Symbol AMDHD1provided by HGNC Official Full Name amidohydrolase domain containing 1provided by HGNC Primary source HGNC:HGNC:28577 See related Ensembl:ENSG00000139344 AllianceGenome:HGNC:28577 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 HMFT1272 Summary Predicted to enable imidazolonepropionase activity. Predicted to be involved in histidine catabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 25.7), adrenal (RPKM 6.0) and 1 other tissue See more Orthologs mouse all
AMDHD2, Official Symbol AMDHD2provided by HGNC Official Full Name amidohydrolase domain containing 2provided by HGNC Primary source HGNC:HGNC:24262 See related Ensembl:ENSG00000162066 AllianceGenome:HGNC:24262 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 CGI-14 Summary Enables N-acetylglucosamine-6-phosphate deacetylase activity. Predicted to be involved in N-acetylglucosamine catabolic process. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 8.7), kidney (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
AMELX, Official Symbol AMELXprovided by HGNC Official Full Name amelogenin X-linkedprovided by HGNC Primary source HGNC:HGNC:461 See related Ensembl:ENSG00000125363 MIM:300391; AllianceGenome:HGNC:461 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 AMG; AI1E; AIH1; ALGN; AMGL; AMGX Summary This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
AMELY, Official Symbol AMELYprovided by HGNC Official Full Name amelogenin Y-linkedprovided by HGNC Primary source HGNC:HGNC:462 See related Ensembl:ENSG00000099721 MIM:410000; AllianceGenome:HGNC:462 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 AMGL; AMGY Summary This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
AMER1, Official Symbol AMER1provided by HGNC Official Full Name APC membrane recruitment protein 1provided by HGNC Primary source HGNC:HGNC:26837 See related Ensembl:ENSG00000184675 MIM:300647; AllianceGenome:HGNC:26837 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 WTX; OSCS; FAM123B Summary The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010] Expression Ubiquitous expression in ovary (RPKM 3.7), esophagus (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
AMER2, Official Symbol AMER2provided by HGNC Official Full Name APC membrane recruitment protein 2provided by HGNC Primary source HGNC:HGNC:26360 See related Ensembl:ENSG00000165566 MIM:614659; AllianceGenome:HGNC:26360 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 FAM123A Summary Enables phosphatidylinositol-4,5-bisphosphate binding activity. Involved in negative regulation of canonical Wnt signaling pathway. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward brain (RPKM 25.9) See more Orthologs mouse all
AMER3, Official Symbol AMER3provided by HGNC Official Full Name APC membrane recruitment protein 3provided by HGNC Primary source HGNC:HGNC:26771 See related Ensembl:ENSG00000178171 AllianceGenome:HGNC:26771 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 FAM123C Summary Predicted to enable beta-catenin binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in regulation of canonical Wnt signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 2.4), stomach (RPKM 0.3) and 3 other tissues See more Orthologs mouse all
AMFR, Official Symbol AMFRprovided by HGNC Official Full Name autocrine motility factor receptorprovided by HGNC Primary source HGNC:HGNC:463 See related Ensembl:ENSG00000159461 MIM:603243; AllianceGenome:HGNC:463 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 GP78; RNF45; SPG89 Summary This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in testis (RPKM 45.4), kidney (RPKM 36.4) and 25 other tissues See more Orthologs mouse all
AMH, Official Symbol AMHprovided by HGNC Official Full Name anti-Mullerian hormoneprovided by HGNC Primary source HGNC:HGNC:464 See related Ensembl:ENSG00000104899 MIM:600957; AllianceGenome:HGNC:464 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 MIF; MIS Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016] Expression Biased expression in testis (RPKM 2.0), brain (RPKM 1.2) and 10 other tissues See more Orthologs mouse all