psui3905/ncbi_genes_summary huggingface dataset:
C6orf62, Official Symbol C6orf62provided by HGNC Official Full Name chromosome 6 open reading frame 62provided by HGNC Primary source HGNC:HGNC:20998 See related Ensembl:ENSG00000112308 AllianceGenome:HGNC:20998 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 XTP12; dJ30M3.2; Nbla00237 Expression Ubiquitous expression in testis (RPKM 42.5), spleen (RPKM 41.6) and 25 other tissues See more Orthologs mouse all
C6orf89, Official Symbol C6orf89provided by HGNC Official Full Name chromosome 6 open reading frame 89provided by HGNC Primary source HGNC:HGNC:21114 See related Ensembl:ENSG00000198663 MIM:616642; AllianceGenome:HGNC:21114 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 BRAP; PS1TP5TP1 Summary Involved in several processes, including epithelial cell proliferation; positive regulation of histone deacetylase activity; and wound healing. Located in several cellular components, including Golgi membrane; midbody; and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: BRAP (Gene ID: 8315) and C6orf89 (Gene ID: 221477) share the BRAP symbol/alias in common. BRAP is a widely used alternative name for chromosome 6 open reading frame 89 (C6orf89), which can be confused with the official symbol for BRCA1-associated protein (BRAP). [05 Jul 2018] Expression Ubiquitous expression in thyroid (RPKM 22.1), brain (RPKM 16.2) and 25 other tissues See more Orthologs mouse all
C7, Official Symbol C7provided by HGNC Official Full Name complement C7provided by HGNC Primary source HGNC:HGNC:1346 See related Ensembl:ENSG00000112936 MIM:217070; AllianceGenome:HGNC:1346 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016] Expression Broad expression in adrenal (RPKM 552.9), gall bladder (RPKM 224.3) and 14 other tissues See more Orthologs mouse all
C7orf25, Official Symbol C7orf25provided by HGNC Official Full Name chromosome 7 open reading frame 25provided by HGNC Primary source HGNC:HGNC:21703 See related Ensembl:ENSG00000136197 AllianceGenome:HGNC:21703 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 Ubiquitous expression in testis (RPKM 4.7), kidney (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
C7orf33, Official Symbol C7orf33provided by HGNC Official Full Name chromosome 7 open reading frame 33provided by HGNC Primary source HGNC:HGNC:21724 See related Ensembl:ENSG00000170279 AllianceGenome:HGNC:21724 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 Low expression observed in reference dataset See more Orthologs all
C7orf50, Official Symbol C7orf50provided by HGNC Official Full Name chromosome 7 open reading frame 50provided by HGNC Primary source HGNC:HGNC:22421 See related Ensembl:ENSG00000146540 AllianceGenome:HGNC:22421 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 YCR016W Summary Enables RNA binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 5.2), brain (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
C7orf57, Official Symbol C7orf57provided by HGNC Official Full Name chromosome 7 open reading frame 57provided by HGNC Primary source HGNC:HGNC:22247 See related Ensembl:ENSG00000164746 AllianceGenome:HGNC:22247 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 Biased expression in testis (RPKM 2.2), lung (RPKM 1.7) and 2 other tissues See more Orthologs mouse all
C8A, Official Symbol C8Aprovided by HGNC Official Full Name complement C8 alpha chainprovided by HGNC Primary source HGNC:HGNC:1352 See related Ensembl:ENSG00000157131 MIM:120950; AllianceGenome:HGNC:1352 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 C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008] Expression Restricted expression toward liver (RPKM 74.5) See more Orthologs mouse all
C8B, Official Symbol C8Bprovided by HGNC Official Full Name complement C8 beta chainprovided by HGNC Primary source HGNC:HGNC:1353 See related Ensembl:ENSG00000021852 MIM:120960; AllianceGenome:HGNC:1353 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 C82 Summary This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Expression Restricted expression toward liver (RPKM 158.8) See more Orthologs mouse all
C8G, Official Symbol C8Gprovided by HGNC Official Full Name complement C8 gamma chainprovided by HGNC Primary source HGNC:HGNC:1354 See related Ensembl:ENSG00000176919 MIM:120930; AllianceGenome:HGNC:1354 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 C8C Summary The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011] Expression Biased expression in liver (RPKM 36.1), duodenum (RPKM 11.1) and 1 other tissue See more Orthologs mouse all
C8orf17, Official Symbol C8orf17provided by HGNC Official Full Name chromosome 8 putative open reading frame 17provided by HGNC Primary source HGNC:HGNC:17737 See related Ensembl:ENSG00000250733 MIM:616992; AllianceGenome:HGNC:17737 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MOST1; MOST-1 Summary Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
C8orf33, Official Symbol C8orf33provided by HGNC Official Full Name chromosome 8 open reading frame 33provided by HGNC Primary source HGNC:HGNC:26104 See related Ensembl:ENSG00000182307 AllianceGenome:HGNC:26104 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 Ubiquitous expression in adrenal (RPKM 26.3), ovary (RPKM 21.4) and 25 other tissues See more Orthologs mouse all
C8orf34, Official Symbol C8orf34provided by HGNC Official Full Name chromosome 8 open reading frame 34provided by HGNC Primary source HGNC:HGNC:30905 See related Ensembl:ENSG00000165084 AllianceGenome:HGNC:30905 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 VEST1; VEST-1 Summary This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 2017] Expression Low expression observed in reference dataset See more Orthologs mouse all
C8orf34-AS1, Official Symbol C8orf34-AS1provided by HGNC Official Full Name C8orf34 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27840 See related Ensembl:ENSG00000248801 AllianceGenome:HGNC:27840 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 lung (RPKM 2.8), prostate (RPKM 1.2) and 3 other tissues See more
C8orf44, Official Symbol C8orf44provided by HGNC Official Full Name chromosome 8 putative open reading frame 44provided by HGNC Primary source HGNC:HGNC:25646 See related Ensembl:ENSG00000288596 AllianceGenome:HGNC:25646 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 1.9), testis (RPKM 1.9) and 25 other tissues See more Orthologs all
C8orf44-SGK3, Official Symbol C8orf44-SGK3provided by HGNC Official Full Name C8orf44-SGK3 readthroughprovided by HGNC Primary source HGNC:HGNC:48354 See related Ensembl:ENSG00000288602 AllianceGenome:HGNC:48354 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This locus represents naturally occurring read-through transcription between the neighboring putative uncharacterized protein C8orf44 (GeneID 56260) and serine/threonine-protein kinase Sgk3 (GeneID 23678) genes on chromosome 8. The read-through transcript produces a protein that shares sequence identity with the downstream gene product. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in thyroid (RPKM 9.3), kidney (RPKM 5.8) and 25 other tissues See more Orthologs all
C8orf48, Official Symbol C8orf48provided by HGNC Official Full Name chromosome 8 open reading frame 48provided by HGNC Primary source HGNC:HGNC:26345 See related Ensembl:ENSG00000164743 AllianceGenome:HGNC:26345 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 Orthologs mouse all
C8orf58, Official Symbol C8orf58provided by HGNC Official Full Name chromosome 8 open reading frame 58provided by HGNC Primary source HGNC:HGNC:32233 See related Ensembl:ENSG00000241852 AllianceGenome:HGNC:32233 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 9.0), placenta (RPKM 8.5) and 23 other tissues See more Orthologs mouse all
C8orf74, Official Symbol C8orf74provided by HGNC Official Full Name chromosome 8 open reading frame 74provided by HGNC Primary source HGNC:HGNC:32296 See related Ensembl:ENSG00000171060 AllianceGenome:HGNC:32296 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 Restricted expression toward testis (RPKM 4.0) See more Orthologs mouse all
C8orf76, Official Symbol C8orf76provided by HGNC Official Full Name chromosome 8 open reading frame 76provided by HGNC Primary source HGNC:HGNC:25924 See related Ensembl:ENSG00000189376 AllianceGenome:HGNC:25924 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 Ubiquitous expression in colon (RPKM 8.2), lymph node (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
C8orf82, Official Symbol C8orf82provided by HGNC Official Full Name chromosome 8 open reading frame 82provided by HGNC Primary source HGNC:HGNC:33826 See related Ensembl:ENSG00000213563 AllianceGenome:HGNC:33826 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 kidney (RPKM 14.8), prostate (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
C8orf88, Official Symbol C8orf88provided by HGNC Official Full Name chromosome 8 open reading frame 88provided by HGNC Primary source HGNC:HGNC:44672 See related Ensembl:ENSG00000253250 AllianceGenome:HGNC:44672 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable eukaryotic initiation factor 4E binding activity. Predicted to be involved in negative regulation of translational initiation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 49.2), brain (RPKM 24.3) and 14 other tissues See more Orthologs mouse all
C8orf89, Official Symbol C8orf89provided by HGNC Official Full Name chromosome 8 open reading frame 89provided by HGNC Primary source HGNC:HGNC:51258 See related Ensembl:ENSG00000274443 AllianceGenome:HGNC:51258 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 Biased expression in testis (RPKM 2.3), lymph node (RPKM 0.3) and 4 other tissues See more Orthologs mouse all
C9, Official Symbol C9provided by HGNC Official Full Name complement C9provided by HGNC Primary source HGNC:HGNC:1358 See related Ensembl:ENSG00000113600 MIM:120940; AllianceGenome:HGNC:1358 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 C9D; ARMD15 Summary This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009] Expression Restricted expression toward liver (RPKM 365.0) See more Orthologs mouse all
C9orf131, Official Symbol C9orf131provided by HGNC Official Full Name chromosome 9 open reading frame 131provided by HGNC Primary source HGNC:HGNC:31418 See related Ensembl:ENSG00000174038 AllianceGenome:HGNC:31418 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 Restricted expression toward testis (RPKM 21.1) See more Orthologs mouse all
C9orf152, Official Symbol C9orf152provided by HGNC Official Full Name chromosome 9 open reading frame 152provided by HGNC Primary source HGNC:HGNC:31455 See related Ensembl:ENSG00000188959 AllianceGenome:HGNC:31455 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 bA470J20.2 Expression Biased expression in colon (RPKM 16.0), stomach (RPKM 13.2) and 9 other tissues See more Orthologs mouse all
C9orf153, Official Symbol C9orf153provided by HGNC Official Full Name chromosome 9 open reading frame 153provided by HGNC Primary source HGNC:HGNC:31456 See related Ensembl:ENSG00000187753 AllianceGenome:HGNC:31456 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 bA507D14.1 Expression Restricted expression toward testis (RPKM 6.4) See more Orthologs mouse all
C9orf163, Official Symbol C9orf163provided by HGNC Official Full Name chromosome 9 putative open reading frame 163provided by HGNC Primary source HGNC:HGNC:26718 See related Ensembl:ENSG00000196366 AllianceGenome:HGNC:26718 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information Note: This locus is considered non-coding by other groups due to a lack of experimental support for the protein, but NCBI annotates the protein because it meets minimal RefSeq quality criteria for representation. The coding status remains uncertain. [29 Oct 2014] Orthologs all
C9orf40, Official Symbol C9orf40provided by HGNC Official Full Name chromosome 9 open reading frame 40provided by HGNC Primary source HGNC:HGNC:23433 See related Ensembl:ENSG00000135045 AllianceGenome:HGNC:23433 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 6.6), small intestine (RPKM 6.0) and 24 other tissues See more Orthologs mouse all
C9orf43, Official Symbol C9orf43provided by HGNC Official Full Name chromosome 9 open reading frame 43provided by HGNC Primary source HGNC:HGNC:23570 See related Ensembl:ENSG00000157653 AllianceGenome:HGNC:23570 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 Restricted expression toward testis (RPKM 20.2) See more Orthologs mouse all
C9orf50, Official Symbol C9orf50provided by HGNC Official Full Name chromosome 9 open reading frame 50provided by HGNC Primary source HGNC:HGNC:23677 See related Ensembl:ENSG00000179058 AllianceGenome:HGNC:23677 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 Biased expression in testis (RPKM 1.6), brain (RPKM 0.2) and 1 other tissue See more Orthologs mouse all
C9orf57, Official Symbol C9orf57provided by HGNC Official Full Name chromosome 9 open reading frame 57provided by HGNC Primary source HGNC:HGNC:27037 See related Ensembl:ENSG00000204669 AllianceGenome:HGNC:27037 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 8.9) See more Orthologs mouse all
C9orf72, Official Symbol C9orf72provided by HGNC Official Full Name C9orf72-SMCR8 complex subunitprovided by HGNC Primary source HGNC:HGNC:28337 See related Ensembl:ENSG00000147894 MIM:614260; AllianceGenome:HGNC:28337 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 ALSFTD; DENND9; FTDALS; DENNL72; FTDALS1 Summary The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in appendix (RPKM 9.7), testis (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
C9orf78, Official Symbol C9orf78provided by HGNC Official Full Name chromosome 9 open reading frame 78provided by HGNC Primary source HGNC:HGNC:24932 See related Ensembl:ENSG00000136819 MIM:619569; AllianceGenome:HGNC:24932 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 CSU2; TLS1; HCA59; HSPC220; bA409K20.3 Summary Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 42.7), kidney (RPKM 29.7) and 25 other tissues See more Orthologs mouse all
C9orf85, Official Symbol C9orf85provided by HGNC Official Full Name chromosome 9 open reading frame 85provided by HGNC Primary source HGNC:HGNC:28784 See related Ensembl:ENSG00000155621 AllianceGenome:HGNC:28784 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 Ubiquitous expression in urinary bladder (RPKM 3.1), testis (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
CA1, Official Symbol CA1provided by HGNC Official Full Name carbonic anhydrase 1provided by HGNC Primary source HGNC:HGNC:1368 See related Ensembl:ENSG00000133742 MIM:114800; AllianceGenome:HGNC:1368 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 CAB; CA-I; Car1; HEL-S-11 Summary Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016] Expression Biased expression in bone marrow (RPKM 551.6) and colon (RPKM 322.2) See more Orthologs mouse all
CA10, Official Symbol CA10provided by HGNC Official Full Name carbonic anhydrase 10provided by HGNC Primary source HGNC:HGNC:1369 See related Ensembl:ENSG00000154975 MIM:604642; AllianceGenome:HGNC:1369 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 CARPX; CA-RPX; HUCEP-15 Summary This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 15.3), kidney (RPKM 2.4) and 2 other tissues See more Orthologs mouse all
CA11, Official Symbol CA11provided by HGNC Official Full Name carbonic anhydrase 11provided by HGNC Primary source HGNC:HGNC:1370 See related Ensembl:ENSG00000063180 MIM:604644; AllianceGenome:HGNC:1370 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 CA-RP; CA-XI; CARP-2; CARPX1; CA-RP II Summary Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 69.9), ovary (RPKM 14.7) and 2 other tissues See more Orthologs mouse all
CA12, Official Symbol CA12provided by HGNC Official Full Name carbonic anhydrase 12provided by HGNC Primary source HGNC:HGNC:1371 See related Ensembl:ENSG00000074410 MIM:603263; AllianceGenome:HGNC:1371 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 CAXII; CA-XII; T18816; HsT18816 Summary Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014] Expression Biased expression in kidney (RPKM 105.5), skin (RPKM 54.4) and 6 other tissues See more Orthologs mouse all
CA13, Official Symbol CA13provided by HGNC Official Full Name carbonic anhydrase 13provided by HGNC Primary source HGNC:HGNC:14914 See related Ensembl:ENSG00000185015 MIM:611436; AllianceGenome:HGNC:14914 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 CAXIII Summary Predicted to enable carbonate dehydratase activity. Predicted to be involved in one-carbon metabolic process. Predicted to be located in intracellular membrane-bounded organelle and myelin sheath. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in small intestine (RPKM 7.8), duodenum (RPKM 6.3) and 18 other tissues See more Orthologs mouse all
CA14, Official Symbol CA14provided by HGNC Official Full Name carbonic anhydrase 14provided by HGNC Primary source HGNC:HGNC:1372 See related Ensembl:ENSG00000118298 MIM:604832; AllianceGenome:HGNC:1372 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 CAXiV Summary Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 3.3), skin (RPKM 1.4) and 12 other tissues See more Orthologs mouse all
CA15P1, Official Symbol CA15P1provided by HGNC Official Full Name CA15 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44364 See related Ensembl:ENSG00000241527 AllianceGenome:HGNC:44364 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CA15P2, Official Symbol CA15P2provided by HGNC Official Full Name CA15 pseudogene 2provided by HGNC Primary source HGNC:HGNC:14916 See related AllianceGenome:HGNC:14916 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CA2, Official Symbol CA2provided by HGNC Official Full Name carbonic anhydrase 2provided by HGNC Primary source HGNC:HGNC:1373 See related Ensembl:ENSG00000104267 MIM:611492; AllianceGenome:HGNC:1373 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 CAC; CAII; Car2; CA-II; HEL-76; HEL-S-282 Summary The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] Expression Biased expression in stomach (RPKM 493.8), colon (RPKM 349.1) and 8 other tissues See more Orthologs mouse all
CA3, Official Symbol CA3provided by HGNC Official Full Name carbonic anhydrase 3provided by HGNC Primary source HGNC:HGNC:1374 See related Ensembl:ENSG00000164879 MIM:114750; AllianceGenome:HGNC:1374 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 Car3; CAIII Summary Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008] Expression Biased expression in prostate (RPKM 78.7), fat (RPKM 38.8) and 3 other tissues See more Orthologs mouse all
CA3-AS1, Official Symbol CA3-AS1provided by HGNC Official Full Name CA3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51657 See related AllianceGenome:HGNC:51657 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 prostate (RPKM 6.8), esophagus (RPKM 3.7) and 13 other tissues See more
CA4, Official Symbol CA4provided by HGNC Official Full Name carbonic anhydrase 4provided by HGNC Primary source HGNC:HGNC:1375 See related Ensembl:ENSG00000167434 MIM:114760; AllianceGenome:HGNC:1375 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 CAIV; Car4; RP17 Summary Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 23.2), fat (RPKM 10.2) and 9 other tissues See more Orthologs mouse all
CA5A, Official Symbol CA5Aprovided by HGNC Official Full Name carbonic anhydrase 5Aprovided by HGNC Primary source HGNC:HGNC:1377 See related Ensembl:ENSG00000174990 MIM:114761; AllianceGenome:HGNC:1377 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 CA5; CAV; CAVA; CA5AD; GS1-21A4.1 Summary Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008] Expression Restricted expression toward liver (RPKM 2.8) See more Orthologs mouse all
CA5AP1, Official Symbol CA5AP1provided by HGNC Official Full Name carbonic anhydrase 5A pseudogene 1provided by HGNC Primary source HGNC:HGNC:1379 See related Ensembl:ENSG00000260133 AllianceGenome:HGNC:1379 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 CA5P
CA5B, Official Symbol CA5Bprovided by HGNC Official Full Name carbonic anhydrase 5Bprovided by HGNC Primary source HGNC:HGNC:1378 See related Ensembl:ENSG00000169239 MIM:300230; AllianceGenome:HGNC:1378 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 CAVB; CA-VB Summary Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes carbonic anhydrase 5B. CA5B, and the related CA5A gene, has its expression localized in the mitochondria though CA5B has a wider tissue distribution than CA5A, which is restricted to the liver, kidneys, and skeletal muscle. A carbonic anhydrase pseudogene (CA5BP1) is adjacent to the CA5B gene and these two loci produce CA5BP1-CA5B readthrough transcripts. [provided by RefSeq, Jan 2019] Expression Broad expression in testis (RPKM 4.8), ovary (RPKM 2.8) and 24 other tissues See more Orthologs mouse all
CA6, Official Symbol CA6provided by HGNC Official Full Name carbonic anhydrase 6provided by HGNC Primary source HGNC:HGNC:1380 See related Ensembl:ENSG00000131686 MIM:114780; AllianceGenome:HGNC:1380 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 CA-VI; GUSTIN Summary The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008] Expression Restricted expression toward salivary gland (RPKM 1381.7) See more Orthologs mouse all
CA7, Official Symbol CA7provided by HGNC Official Full Name carbonic anhydrase 7provided by HGNC Primary source HGNC:HGNC:1381 See related Ensembl:ENSG00000168748 MIM:114770; AllianceGenome:HGNC:1381 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 CAVII; CA-VII Summary Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the brain and contributes to bicarbonate driven GABAergic neuron excitation. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2018] Expression Biased expression in colon (RPKM 16.2), small intestine (RPKM 3.6) and 2 other tissues See more Orthologs mouse all
CA8, Official Symbol CA8provided by HGNC Official Full Name carbonic anhydrase 8provided by HGNC Primary source HGNC:HGNC:1382 See related Ensembl:ENSG00000178538 MIM:114815; AllianceGenome:HGNC:1382 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 CALS; CARP; CA-RP; CAMRQ3; CA-VIII Summary The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Expression Broad expression in testis (RPKM 2.4), placenta (RPKM 2.4) and 20 other tissues See more Orthologs mouse all
CA9, Official Symbol CA9provided by HGNC Official Full Name carbonic anhydrase 9provided by HGNC Primary source HGNC:HGNC:1383 See related Ensembl:ENSG00000107159 MIM:603179; AllianceGenome:HGNC:1383 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 MN; CAIX Summary Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014] Expression Biased expression in stomach (RPKM 43.2), gall bladder (RPKM 17.1) and 4 other tissues See more Orthologs mouse all
CAAP1, Official Symbol CAAP1provided by HGNC Official Full Name caspase activity and apoptosis inhibitor 1provided by HGNC Primary source HGNC:HGNC:25834 See related Ensembl:ENSG00000120159 AllianceGenome:HGNC:25834 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 CAAP; C9orf82 Summary Involved in negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 14.1), adrenal (RPKM 11.5) and 25 other tissues See more Orthologs mouse all
CAB39, Official Symbol CAB39provided by HGNC Official Full Name calcium binding protein 39provided by HGNC Primary source HGNC:HGNC:20292 See related Ensembl:ENSG00000135932 MIM:612174; AllianceGenome:HGNC:20292 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 MO25; CGI-66 Summary Enables kinase binding activity and protein serine/threonine kinase activator activity. Involved in intracellular signal transduction; peptidyl-serine phosphorylation; and positive regulation of protein phosphorylation. Located in extracellular exosome. Implicated in hepatocellular carcinoma. Biomarker of hepatocellular carcinoma and pancreatic cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 18.8), appendix (RPKM 18.4) and 25 other tissues See more Orthologs mouse all
CAB39L, Official Symbol CAB39Lprovided by HGNC Official Full Name calcium binding protein 39 likeprovided by HGNC Primary source HGNC:HGNC:20290 See related Ensembl:ENSG00000102547 MIM:612175; AllianceGenome:HGNC:20290 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 MO2L; MLAA-34; MO25-BETA; bA103J18.3 Summary Predicted to enable protein serine/threonine kinase activator activity. Predicted to be involved in intracellular signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in prostate (RPKM 17.8), adrenal (RPKM 15.4) and 23 other tissues See more Orthologs mouse all