psui3905/ncbi_genes_summary huggingface dataset:
ATR, Official Symbol ATRprovided by HGNC Official Full Name ATR serine/threonine kinaseprovided by HGNC Primary source HGNC:HGNC:882 See related Ensembl:ENSG00000175054 MIM:601215; AllianceGenome:HGNC:882 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 FRP1; MEC1; SCKL; FCTCS; SCKL1 Summary The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in testis (RPKM 5.4), adrenal (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
ATRAID, Official Symbol ATRAIDprovided by HGNC Official Full Name all-trans retinoic acid induced differentiation factorprovided by HGNC Primary source HGNC:HGNC:24090 See related Ensembl:ENSG00000138085 MIM:619682; AllianceGenome:HGNC:24090 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 p18; APR3; APR-3; APR--3; PRO240; C2orf28; HSPC013 Summary This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009] Expression Ubiquitous expression in thyroid (RPKM 48.2), testis (RPKM 45.1) and 25 other tissues See more Orthologs mouse all
ATRIP, Official Symbol ATRIPprovided by HGNC Official Full Name ATR interacting proteinprovided by HGNC Primary source HGNC:HGNC:33499 See related Ensembl:ENSG00000164053 MIM:606605; AllianceGenome:HGNC:33499 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 an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012] Annotation information Note: GeneID 11277 was annotated as a single gene with two non-overlapping coding regions. GeneID 11277 now represents only the downstream coding region encoding three prime repair exonuclease 1. The upstream coding region is represented by geneID 84126. [29 May 2007] Expression Broad expression in testis (RPKM 11.6), thyroid (RPKM 3.8) and 23 other tissues See more Orthologs mouse all
ATRN, Official Symbol ATRNprovided by HGNC Official Full Name attractinprovided by HGNC Primary source HGNC:HGNC:885 See related Ensembl:ENSG00000088812 MIM:603130; AllianceGenome:HGNC:885 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 MGCA; DPPT-L Summary This gene encodes both membrane-bound and secreted protein isoforms. A membrane-bound isoform exhibits sequence similarity with the mouse mahogany protein, a receptor involved in controlling obesity. A secreted isoform is involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in duodenum (RPKM 20.8), thyroid (RPKM 17.2) and 25 other tissues See more Orthologs mouse all
ATRNL1, Official Symbol ATRNL1provided by HGNC Official Full Name attractin like 1provided by HGNC Primary source HGNC:HGNC:29063 See related Ensembl:ENSG00000107518 MIM:612869; AllianceGenome:HGNC:29063 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 ALP; bA338L11.1; bA454H24.1 Summary Predicted to enable carbohydrate binding activity. Predicted to be involved in several processes, including animal organ morphogenesis; cell migration; and substrate adhesion-dependent cell spreading. Predicted to act upstream of or within G protein-coupled receptor signaling pathway. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in basement membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 4.2), ovary (RPKM 1.8) and 5 other tissues See more Orthologs mouse all
ATRX, Official Symbol ATRXprovided by HGNC Official Full Name ATRX chromatin remodelerprovided by HGNC Primary source HGNC:HGNC:886 See related Ensembl:ENSG00000085224 MIM:300032; AllianceGenome:HGNC:886 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 JMS; XH2; XNP; MRX52; RAD54; RAD54L; ZNF-HX Summary The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in brain (RPKM 12.1), endometrium (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
ATXN1, Official Symbol ATXN1provided by HGNC Official Full Name ataxin 1provided by HGNC Primary source HGNC:HGNC:10548 See related Ensembl:ENSG00000124788 MIM:601556; AllianceGenome:HGNC:10548 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 ATX1; SCA1; D6S504E Summary The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017] Expression Ubiquitous expression in endometrium (RPKM 6.8), brain (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
ATXN10, Official Symbol ATXN10provided by HGNC Official Full Name ataxin 10provided by HGNC Primary source HGNC:HGNC:10549 See related Ensembl:ENSG00000130638 MIM:611150; AllianceGenome:HGNC:10549 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 E46L; ATX10; SCA10; HUMEEP Summary This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016] Expression Ubiquitous expression in brain (RPKM 40.8), thyroid (RPKM 30.3) and 25 other tissues See more Orthologs mouse all
ATXN1L, Official Symbol ATXN1Lprovided by HGNC Official Full Name ataxin 1 likeprovided by HGNC Primary source HGNC:HGNC:33279 See related Ensembl:ENSG00000224470 MIM:614301; AllianceGenome:HGNC:33279 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 BOAT; BOAT1 Summary Predicted to enable DNA binding activity and RNA binding activity. Predicted to be involved in several processes, including learning or memory; regulation of transcription, DNA-templated; and social behavior. Predicted to act upstream of or within several processes, including lung alveolus development; negative regulation of transcription by RNA polymerase II; and positive regulation of hematopoietic stem cell proliferation. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 17.2), kidney (RPKM 12.6) and 25 other tissues See more Orthologs mouse all
ATXN2, Official Symbol ATXN2provided by HGNC Official Full Name ataxin 2provided by HGNC Primary source HGNC:HGNC:10555 See related Ensembl:ENSG00000204842 MIM:601517; AllianceGenome:HGNC:10555 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 ATX2; SCA2; TNRC13 Summary This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] Expression Ubiquitous expression in testis (RPKM 11.3), brain (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
ATXN2-AS, Official Symbol ATXN2-ASprovided by HGNC Official Full Name ATXN2 antisense RNAprovided by HGNC Primary source HGNC:HGNC:51838 See related Ensembl:ENSG00000258099 AllianceGenome:HGNC:51838 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATXN2L, Official Symbol ATXN2Lprovided by HGNC Official Full Name ataxin 2 likeprovided by HGNC Primary source HGNC:HGNC:31326 See related Ensembl:ENSG00000168488 MIM:607931; AllianceGenome:HGNC:31326 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 A2D; A2LG; A2LP; A2RP Summary This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 66.0), spleen (RPKM 26.9) and 25 other tissues See more Orthologs mouse all
ATXN3, Official Symbol ATXN3provided by HGNC Official Full Name ataxin 3provided by HGNC Primary source HGNC:HGNC:7106 See related Ensembl:ENSG00000066427 MIM:607047; AllianceGenome:HGNC:7106 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 AT3; JOS; MJD; ATX3; MJD1; SCA3 Summary Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in skin (RPKM 4.6), testis (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
ATXN3L, Official Symbol ATXN3Lprovided by HGNC Official Full Name ataxin 3 likeprovided by HGNC Primary source HGNC:HGNC:24173 See related Ensembl:ENSG00000123594 MIM:300920; AllianceGenome:HGNC:24173 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 MJDL Summary This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011] Orthologs all
ATXN7, Official Symbol ATXN7provided by HGNC Official Full Name ataxin 7provided by HGNC Primary source HGNC:HGNC:10560 See related Ensembl:ENSG00000163635 MIM:607640; AllianceGenome:HGNC:10560 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 SCA7; OPCA3; SGF73; ADCAII Summary The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in bone marrow (RPKM 8.0), testis (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
ATXN7L1, Official Symbol ATXN7L1provided by HGNC Official Full Name ataxin 7 like 1provided by HGNC Primary source HGNC:HGNC:22210 See related Ensembl:ENSG00000146776 AllianceGenome:HGNC:22210 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 ATXN7L4 Expression Ubiquitous expression in testis (RPKM 2.9), kidney (RPKM 1.4) and 24 other tissues See more Orthologs mouse all
ATXN7L2, Official Symbol ATXN7L2provided by HGNC Official Full Name ataxin 7 like 2provided by HGNC Primary source HGNC:HGNC:28713 See related Ensembl:ENSG00000162650 AllianceGenome:HGNC:28713 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 Expression Broad expression in testis (RPKM 4.6), brain (RPKM 2.1) and 24 other tissues See more Orthologs mouse all
ATXN7L3, Official Symbol ATXN7L3provided by HGNC Official Full Name ataxin 7 like 3provided by HGNC Primary source HGNC:HGNC:25416 See related Ensembl:ENSG00000087152 MIM:619010; AllianceGenome:HGNC:25416 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 SGF11 Summary Enables nuclear receptor coactivator activity. Involved in histone deubiquitination; histone monoubiquitination; and positive regulation of transcription, DNA-templated. Located in nucleus. Part of DUBm complex and SAGA complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 19.9), testis (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
ATXN7L3B, Official Symbol ATXN7L3Bprovided by HGNC Official Full Name ataxin 7 like 3Bprovided by HGNC Primary source HGNC:HGNC:37931 See related Ensembl:ENSG00000253719 MIM:615579; AllianceGenome:HGNC:37931 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 lnc-SCA7 Summary Involved in regulation of gene expression. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
ATXN7L3P1, Official Symbol ATXN7L3P1provided by HGNC Official Full Name ATXN7L3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54980 See related Ensembl:ENSG00000215168 AllianceGenome:HGNC:54980 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATXN8, Official Symbol ATXN8provided by HGNC Official Full Name ataxin 8provided by HGNC Primary source HGNC:HGNC:32925 See related MIM:613289 Gene type protein coding Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010] Annotation information not in current annotation release
AUH, Official Symbol AUHprovided by HGNC Official Full Name AU RNA binding methylglutaconyl-CoA hydrataseprovided by HGNC Primary source HGNC:HGNC:890 See related Ensembl:ENSG00000148090 MIM:600529; AllianceGenome:HGNC:890 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 bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in kidney (RPKM 3.8), prostate (RPKM 3.1) and 25 other tissues See more Orthologs mouse all
AUNIP, Official Symbol AUNIPprovided by HGNC Official Full Name aurora kinase A and ninein interacting proteinprovided by HGNC Primary source HGNC:HGNC:28363 See related Ensembl:ENSG00000127423 MIM:620397; AllianceGenome:HGNC:28363 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 AIBP; C1orf135 Summary Enables damaged DNA binding activity. Involved in double-strand break repair via homologous recombination; negative regulation of double-strand break repair via nonhomologous end joining; and spindle organization. Located in centrosome; site of DNA damage; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 11.8), adrenal (RPKM 7.3) and 24 other tissues See more Orthologs mouse all
AUP1, Official Symbol AUP1provided by HGNC Official Full Name AUP1 lipid droplet regulating VLDL assembly factorprovided by HGNC Primary source HGNC:HGNC:891 See related Ensembl:ENSG00000115307 MIM:602434; AllianceGenome:HGNC:891 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 this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Expression Ubiquitous expression in bone marrow (RPKM 42.2), duodenum (RPKM 40.5) and 25 other tissues See more Orthologs mouse all
AURKA, Official Symbol AURKAprovided by HGNC Official Full Name aurora kinase Aprovided by HGNC Primary source HGNC:HGNC:11393 See related Ensembl:ENSG00000087586 MIM:603072; AllianceGenome:HGNC:11393 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 AIK; ARK1; AURA; BTAK; STK6; STK7; STK15; PPP1R47 Summary The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 12.9), lymph node (RPKM 6.9) and 16 other tissues See more Orthologs mouse all
AURKAIP1, Official Symbol AURKAIP1provided by HGNC Official Full Name aurora kinase A interacting protein 1provided by HGNC Primary source HGNC:HGNC:24114 See related Ensembl:ENSG00000175756 MIM:609183; AllianceGenome:HGNC:24114 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 AIP; AKIP; mS38; MRP-S38 Summary Acts upstream of or within positive regulation of proteolysis. Located in mitochondrion and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 40.0), kidney (RPKM 27.3) and 25 other tissues See more Orthologs mouse all
AURKAP2, Official Symbol AURKAP2provided by HGNC Official Full Name aurora kinase A pseudogene 2provided by HGNC Primary source HGNC:HGNC:18612 See related AllianceGenome:HGNC:18612 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 STK6LP; AURKAPS2
AURKB, Official Symbol AURKBprovided by HGNC Official Full Name aurora kinase Bprovided by HGNC Primary source HGNC:HGNC:11390 See related Ensembl:ENSG00000178999 MIM:604970; AllianceGenome:HGNC:11390 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 AIK2; AIM1; ARK2; AurB; IPL1; STK5; AIM-1; ARK-2; STK-1; STK12; PPP1R48; aurkb-sv1; aurkb-sv2 Summary This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015] Expression Biased expression in lymph node (RPKM 11.6), bone marrow (RPKM 10.7) and 11 other tissues See more Orthologs mouse all
AURKBP1, Official Symbol AURKBP1provided by HGNC Official Full Name aurora kinase B pseudogene 1provided by HGNC Primary source HGNC:HGNC:18613 See related Ensembl:ENSG00000230948 AllianceGenome:HGNC:18613 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 AurBps1; AURKBPS1
AURKC, Official Symbol AURKCprovided by HGNC Official Full Name aurora kinase Cprovided by HGNC Primary source HGNC:HGNC:11391 See related Ensembl:ENSG00000105146 MIM:603495; AllianceGenome:HGNC:11391 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 AIE2; AIK3; ARK3; AurC; SPGF5; STK13; HEL-S-90; aurora-C Summary This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 14.8), brain (RPKM 1.0) and 1 other tissue See more Orthologs mouse all
AUTS2, Official Symbol AUTS2provided by HGNC Official Full Name activator of transcription and developmental regulator AUTS2provided by HGNC Primary source HGNC:HGNC:14262 See related Ensembl:ENSG00000158321 MIM:607270; AllianceGenome:HGNC:14262 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 MRD26; FBRSL2 Summary This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014] Expression Ubiquitous expression in salivary gland (RPKM 2.5), skin (RPKM 2.4) and 25 other tissues See more Orthologs mouse all
AVEN, Official Symbol AVENprovided by HGNC Official Full Name apoptosis and caspase activation inhibitorprovided by HGNC Primary source HGNC:HGNC:13509 See related Ensembl:ENSG00000169857 MIM:605265; AllianceGenome:HGNC:13509 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 PDCD12 Summary Involved in negative regulation of apoptotic process. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 1.9), placenta (RPKM 1.7) and 25 other tissues See more Orthologs mouse all
AVIL, Official Symbol AVILprovided by HGNC Official Full Name advillinprovided by HGNC Primary source HGNC:HGNC:14188 See related Ensembl:ENSG00000135407 MIM:613397; AllianceGenome:HGNC:14188 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 p92; DOC6; ADVIL; NPHS21 Summary The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 3.9), appendix (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
AVL9, Official Symbol AVL9provided by HGNC Official Full Name AVL9 cell migration associatedprovided by HGNC Primary source HGNC:HGNC:28994 See related Ensembl:ENSG00000105778 MIM:612927; AllianceGenome:HGNC:28994 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 KIAA0241 Summary Involved in cell migration. Located in recycling endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 9.9), colon (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
AVP, Official Symbol AVPprovided by HGNC Official Full Name arginine vasopressinprovided by HGNC Primary source HGNC:HGNC:894 See related Ensembl:ENSG00000101200 MIM:192340; AllianceGenome:HGNC:894 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 VP; ADH; ARVP; AVRP; AVP-NPII Summary This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin is a posterior pituitary hormone that is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). This gene is present in a gene cluster with the related gene oxytocin on chromosome 20. [provided by RefSeq, Nov 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
AVPI1, Official Symbol AVPI1provided by HGNC Official Full Name arginine vasopressin induced 1provided by HGNC Primary source HGNC:HGNC:30898 See related Ensembl:ENSG00000119986 MIM:618537; AllianceGenome:HGNC:30898 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 VIP32; VIT32; PP5395 Summary Predicted to act upstream of or within positive regulation of MAPK cascade. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 14.7), colon (RPKM 12.7) and 25 other tissues See more Orthologs mouse all
AVPR1A, Official Symbol AVPR1Aprovided by HGNC Official Full Name arginine vasopressin receptor 1Aprovided by HGNC Primary source HGNC:HGNC:895 See related Ensembl:ENSG00000166148 MIM:600821; AllianceGenome:HGNC:895 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 V1aR; AVPR1; AVPR V1a Summary The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 29.7), endometrium (RPKM 8.7) and 7 other tissues See more Orthologs mouse all
AVPR1B, Official Symbol AVPR1Bprovided by HGNC Official Full Name arginine vasopressin receptor 1Bprovided by HGNC Primary source HGNC:HGNC:896 See related Ensembl:ENSG00000198049 MIM:600264; AllianceGenome:HGNC:896 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 V1bR; VPR3; AVPR3 Summary The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
AVPR2, Official Symbol AVPR2provided by HGNC Official Full Name arginine vasopressin receptor 2provided by HGNC Primary source HGNC:HGNC:897 See related Ensembl:ENSG00000126895 MIM:300538; AllianceGenome:HGNC:897 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 DI1; DIR; NDI; V2R; ADHR; DIR3; NDI1 Summary This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 2.2), kidney (RPKM 1.4) and 15 other tissues See more Orthologs mouse all
AWAT1, Official Symbol AWAT1provided by HGNC Official Full Name acyl-CoA wax alcohol acyltransferase 1provided by HGNC Primary source HGNC:HGNC:23252 See related Ensembl:ENSG00000204195 MIM:300924; AllianceGenome:HGNC:23252 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 DGA2; DGAT2L3 Summary The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the sebaceous gland of the skin. [provided by RefSeq, Sep 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
AWAT2, Official Symbol AWAT2provided by HGNC Official Full Name acyl-CoA wax alcohol acyltransferase 2provided by HGNC Primary source HGNC:HGNC:23251 See related Ensembl:ENSG00000147160 MIM:300925; AllianceGenome:HGNC:23251 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 WS; DC4; ARAT; MFAT; DGAT2L4 Summary This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters. [provided by RefSeq, May 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
AXDND1, Official Symbol AXDND1provided by HGNC Official Full Name axonemal dynein light chain domain containing 1provided by HGNC Primary source HGNC:HGNC:26564 See related Ensembl:ENSG00000162779 AllianceGenome:HGNC:26564 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 C1orf125 Expression Biased expression in testis (RPKM 7.6), duodenum (RPKM 0.7) and 3 other tissues See more Orthologs mouse all
AXIN1, Official Symbol AXIN1provided by HGNC Official Full Name axin 1provided by HGNC Primary source HGNC:HGNC:903 See related Ensembl:ENSG00000103126 MIM:603816; AllianceGenome:HGNC:903 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 AXIN; PPP1R49 Summary This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in bone marrow (RPKM 4.6), colon (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
AXIN2, Official Symbol AXIN2provided by HGNC Official Full Name axin 2provided by HGNC Primary source HGNC:HGNC:904 See related Ensembl:ENSG00000168646 MIM:604025; AllianceGenome:HGNC:904 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 AXIL; ODCRCS Summary The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 8.4), lung (RPKM 7.1) and 23 other tissues See more Orthologs mouse all
AXL, Official Symbol AXLprovided by HGNC Official Full Name AXL receptor tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:905 See related Ensembl:ENSG00000167601 MIM:109135; AllianceGenome:HGNC:905 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 ARK; UFO; AXL3; JTK11; Tyro7 Summary The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. The encoded protein acts as a host cell receptor for multiple viruses, including Marburg, Ebola and Lassa viruses and is a candidate receptor for the SARS-CoV2 virus. [provided by RefSeq, Sep 2021] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Ubiquitous expression in spleen (RPKM 20.7), endometrium (RPKM 15.3) and 23 other tissues See more Orthologs mouse all