psui3905/ncbi_genes_summary huggingface dataset:
CASP1, Official Symbol CASP1provided by HGNC Official Full Name caspase 1provided by HGNC Primary source HGNC:HGNC:1499 See related Ensembl:ENSG00000137752 MIM:147678; AllianceGenome:HGNC:1499 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 ICE; P45; IL1BC Summary This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012] Expression Broad expression in small intestine (RPKM 39.5), duodenum (RPKM 37.3) and 21 other tissues See more Orthologs all
CASP10, Official Symbol CASP10provided by HGNC Official Full Name caspase 10provided by HGNC Primary source HGNC:HGNC:1500 See related Ensembl:ENSG00000003400 MIM:601762; AllianceGenome:HGNC:1500 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 MCH4; ALPS2; FLICE2; FLICE-2 Summary This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] Expression Broad expression in duodenum (RPKM 6.6), spleen (RPKM 5.9) and 23 other tissues See more Orthologs all
CASP12, Official Symbol CASP12provided by HGNC Official Full Name caspase 12 (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:19004 See related MIM:608633; AllianceGenome:HGNC:19004 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 CASP-12; CASP12P1 Summary Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011] Annotation information Annotation category: suggests misassembly Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Broad expression in ovary (RPKM 2.1), endometrium (RPKM 1.1) and 14 other tissues See more
CASP14, Official Symbol CASP14provided by HGNC Official Full Name caspase 14provided by HGNC Primary source HGNC:HGNC:1502 See related Ensembl:ENSG00000105141 MIM:605848; AllianceGenome:HGNC:1502 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 ARCI12; caspase-14 Summary This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008] Expression Restricted expression toward skin (RPKM 223.1) See more Orthologs mouse all
CASP16P, Official Symbol CASP16Pprovided by HGNC Official Full Name caspase 16, pseudogeneprovided by HGNC Primary source HGNC:HGNC:27290 See related Ensembl:ENSG00000228146 AllianceGenome:HGNC:27290 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CASP16 Expression Biased expression in duodenum (RPKM 7.7), small intestine (RPKM 5.2) and 2 other tissues See more Orthologs all
CASP2, Official Symbol CASP2provided by HGNC Official Full Name caspase 2provided by HGNC Primary source HGNC:HGNC:1503 See related Ensembl:ENSG00000106144 MIM:600639; AllianceGenome:HGNC:1503 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 ICH1; NEDD2; CASP-2; NEDD-2; PPP1R57 Summary This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer's disease, Huntington's disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in bone marrow (RPKM 14.7), lymph node (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
CASP3, Official Symbol CASP3provided by HGNC Official Full Name caspase 3provided by HGNC Primary source HGNC:HGNC:1504 See related Ensembl:ENSG00000164305 MIM:600636; AllianceGenome:HGNC:1504 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 CPP32; SCA-1; CPP32B Summary The protein encoded by this gene is a cysteine-aspartic acid protease that plays a central role in the execution-phase of cell apoptosis. The encoded protein cleaves and inactivates poly(ADP-ribose) polymerase while it cleaves and activates sterol regulatory element binding proteins as well as caspases 6, 7, and 9. This protein itself is processed by caspases 8, 9, and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in duodenum (RPKM 26.8), small intestine (RPKM 21.6) and 25 other tissues See more Orthologs mouse all
CASP3P1, Official Symbol CASP3P1provided by HGNC Official Full Name caspase 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:43596 See related Ensembl:ENSG00000237033 AllianceGenome:HGNC:43596 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CASP4, Official Symbol CASP4provided by HGNC Official Full Name caspase 4provided by HGNC Primary source HGNC:HGNC:1505 See related Ensembl:ENSG00000196954 MIM:602664; AllianceGenome:HGNC:1505 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 TX; Mih1; ICH-2; Mih1/TX; ICEREL-II; ICE(rel)II Summary This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in appendix (RPKM 42.7), lymph node (RPKM 37.1) and 24 other tissues See more Orthologs all
CASP5, Official Symbol CASP5provided by HGNC Official Full Name caspase 5provided by HGNC Primary source HGNC:HGNC:1506 See related Ensembl:ENSG00000137757 MIM:602665; AllianceGenome:HGNC:1506 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 ICH-3; ICEREL-III; ICE(rel)III Summary This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] Expression Biased expression in appendix (RPKM 4.9), small intestine (RPKM 4.7) and 5 other tissues See more Orthologs all
CASP6, Official Symbol CASP6provided by HGNC Official Full Name caspase 6provided by HGNC Primary source HGNC:HGNC:1507 See related Ensembl:ENSG00000138794 MIM:601532; AllianceGenome:HGNC:1507 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 MCH2; CSP-6; caspase-6 Summary This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic acid residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Oct 2015] Expression Broad expression in duodenum (RPKM 18.7), colon (RPKM 18.7) and 25 other tissues See more Orthologs mouse all
CASP7, Official Symbol CASP7provided by HGNC Official Full Name caspase 7provided by HGNC Primary source HGNC:HGNC:1508 See related Ensembl:ENSG00000165806 MIM:601761; AllianceGenome:HGNC:1508 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 MCH3; CMH-1; LICE2; CASP-7; ICE-LAP3 Summary This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Expression Broad expression in colon (RPKM 28.2), small intestine (RPKM 22.7) and 25 other tissues See more Orthologs mouse all
CASP8, Official Symbol CASP8provided by HGNC Official Full Name caspase 8provided by HGNC Primary source HGNC:HGNC:1509 See related Ensembl:ENSG00000064012 MIM:601763; AllianceGenome:HGNC:1509 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 CAP4; MACH; MCH5; FLICE; ALPS2B; Casp-8 Summary This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 26.3), lymph node (RPKM 15.2) and 21 other tissues See more Orthologs mouse all
CASP8AP2, Official Symbol CASP8AP2provided by HGNC Official Full Name caspase 8 associated protein 2provided by HGNC Primary source HGNC:HGNC:1510 See related Ensembl:ENSG00000118412 MIM:606880; AllianceGenome:HGNC:1510 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 CED-4; FLASH; RIP25 Summary This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008] Annotation information Annotation category: suggests misassembly Annotation category: partial on reference assembly Expression Ubiquitous expression in lymph node (RPKM 5.6), testis (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
CASP9, Official Symbol CASP9provided by HGNC Official Full Name caspase 9provided by HGNC Primary source HGNC:HGNC:1511 See related Ensembl:ENSG00000132906 MIM:602234; AllianceGenome:HGNC:1511 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 MCH6; APAF3; APAF-3; PPP1R56; ICE-LAP6 Summary This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Ubiquitous expression in adrenal (RPKM 10.2), ovary (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
CASQ1, Official Symbol CASQ1provided by HGNC Official Full Name calsequestrin 1provided by HGNC Primary source HGNC:HGNC:1512 See related Ensembl:ENSG00000143318 MIM:114250; AllianceGenome:HGNC:1512 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 CASQ; CSQ1; PDIB1; VMCQA Summary This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013] Expression Biased expression in esophagus (RPKM 21.8), prostate (RPKM 18.0) and 6 other tissues See more Orthologs mouse all
CASQ2, Official Symbol CASQ2provided by HGNC Official Full Name calsequestrin 2provided by HGNC Primary source HGNC:HGNC:1513 See related Ensembl:ENSG00000118729 MIM:114251; AllianceGenome:HGNC:1513 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 PDIB2 Summary The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 404.6), urinary bladder (RPKM 24.0) and 2 other tissues See more Orthologs mouse all
CASR, Official Symbol CASRprovided by HGNC Official Full Name calcium sensing receptorprovided by HGNC Primary source HGNC:HGNC:1514 See related Ensembl:ENSG00000036828 MIM:601199; AllianceGenome:HGNC:1514 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 CAR; FHH; FIH; HHC; EIG8; HHC1; NSHPT; PCAR1; hCasR; GPRC2A; HYPOC1 Summary The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017] Expression Biased expression in kidney (RPKM 8.6), gall bladder (RPKM 2.1) and 2 other tissues See more Orthologs mouse all
CASS4, Official Symbol CASS4provided by HGNC Official Full Name Cas scaffold protein family member 4provided by HGNC Primary source HGNC:HGNC:15878 See related Ensembl:ENSG00000087589 MIM:618888; AllianceGenome:HGNC:15878 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 CAS4; HEFL; HEPL; C20orf32 Summary Enables protein tyrosine kinase binding activity. Involved in several processes, including positive regulation of protein kinase B signaling; positive regulation of protein tyrosine kinase activity; and positive regulation of substrate adhesion-dependent cell spreading. Located in focal adhesion. Part of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 5.8), appendix (RPKM 4.9) and 15 other tissues See more Orthologs mouse all
CAST, Official Symbol CASTprovided by HGNC Official Full Name calpastatinprovided by HGNC Primary source HGNC:HGNC:1515 See related Ensembl:ENSG00000153113 MIM:114090; AllianceGenome:HGNC:1515 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 BS-17; PLACK Summary The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010] Expression Ubiquitous expression in esophagus (RPKM 82.1), heart (RPKM 55.7) and 24 other tissues See more Orthologs mouse all
CASTOR1, Official Symbol CASTOR1provided by HGNC Official Full Name cytosolic arginine sensor for mTORC1 subunit 1provided by HGNC Primary source HGNC:HGNC:34423 See related Ensembl:ENSG00000239282 MIM:617034; AllianceGenome:HGNC:34423 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 GATSL3 Summary Enables arginine binding activity and identical protein binding activity. Involved in cellular response to L-arginine and negative regulation of TORC1 signaling. Located in cytosol. Colocalizes with GATOR2 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in esophagus (RPKM 13.7), placenta (RPKM 8.5) and 22 other tissues See more Orthologs mouse all
CASTOR2, Official Symbol CASTOR2provided by HGNC Official Full Name cytosolic arginine sensor for mTORC1 subunit 2provided by HGNC Primary source HGNC:HGNC:37073 See related Ensembl:ENSG00000274070 MIM:617033; AllianceGenome:HGNC:37073 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 GATSL1; GATSL2 Summary Enables identical protein binding activity. Involved in negative regulation of TORC1 signaling. Located in cytosol. Colocalizes with GATOR2 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 6.4), ovary (RPKM 2.5) and 24 other tissues See more Orthologs mouse all
CASZ1, Official Symbol CASZ1provided by HGNC Official Full Name castor zinc finger 1provided by HGNC Primary source HGNC:HGNC:26002 See related Ensembl:ENSG00000130940 MIM:609895; AllianceGenome:HGNC:26002 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 CST; SRG; CAS11; ZNF693; dJ734G22.1 Summary The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] Expression Broad expression in skin (RPKM 7.7), prostate (RPKM 5.8) and 22 other tissues See more Orthologs mouse all
CAT, Official Symbol CATprovided by HGNC Official Full Name catalaseprovided by HGNC Primary source HGNC:HGNC:1516 See related Ensembl:ENSG00000121691 MIM:115500; AllianceGenome:HGNC:1516 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 catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009] Expression Broad expression in liver (RPKM 283.8), fat (RPKM 207.7) and 23 other tissues See more Orthologs mouse all
CATIP, Official Symbol CATIPprovided by HGNC Official Full Name ciliogenesis associated TTC17 interacting proteinprovided by HGNC Primary source HGNC:HGNC:25062 See related Ensembl:ENSG00000158428 MIM:619387; AllianceGenome:HGNC:25062 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 C2orf62 Summary Involved in actin filament polymerization and cilium organization. Located in several cellular components, including actin cytoskeleton; nucleus; and plasma membrane. Implicated in spermatogenic failure. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.8), kidney (RPKM 1.1) and 13 other tissues See more Orthologs mouse all
CATIP-AS1, Official Symbol CATIP-AS1provided by HGNC Official Full Name CATIP antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41080 See related Ensembl:ENSG00000225062 AllianceGenome:HGNC:41080 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 Broad expression in kidney (RPKM 1.2), testis (RPKM 1.0) and 24 other tissues See more
CATIP-AS2, Official Symbol CATIP-AS2provided by HGNC Official Full Name CATIP antisense RNA 2provided by HGNC Primary source HGNC:HGNC:41079 See related AllianceGenome:HGNC:41079 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 Low expression observed in reference dataset See more
CATSPER1, Official Symbol CATSPER1provided by HGNC Official Full Name cation channel sperm associated 1provided by HGNC Primary source HGNC:HGNC:17116 See related Ensembl:ENSG00000175294 MIM:606389; AllianceGenome:HGNC:17116 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 SPGF7; CATSPER Summary Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 8.9) See more Orthologs mouse all
CATSPER2, Official Symbol CATSPER2provided by HGNC Official Full Name cation channel sperm associated 2provided by HGNC Primary source HGNC:HGNC:18810 See related Ensembl:ENSG00000166762 MIM:607249; AllianceGenome:HGNC:18810 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variants have been observed at this locus. Readthrough transcription originates upstream of this locus in diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 and is represented by GeneID:110006325. Related pseudogenes are found next to this locus on chromosome 15 and on chromosome 5. [provided by RefSeq, Mar 2017] Expression Broad expression in testis (RPKM 13.6), skin (RPKM 2.9) and 15 other tissues See more Orthologs mouse all
CATSPER2P1, Official Symbol CATSPER2P1provided by HGNC Official Full Name CATSPER2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31054 See related Ensembl:ENSG00000291053 AllianceGenome:HGNC:31054 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CATSPER2B Summary Catsper genes belong to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. This gene is part of a tandem repeat on chromosome 15q15; this copy of the gene is thought to be a pseudogene. [provided by RefSeq, Oct 2008] Expression Broad expression in testis (RPKM 4.5), thyroid (RPKM 1.3) and 22 other tissues See more
CATSPER3, Official Symbol CATSPER3provided by HGNC Official Full Name cation channel sperm associated 3provided by HGNC Primary source HGNC:HGNC:20819 See related Ensembl:ENSG00000152705 MIM:609120; AllianceGenome:HGNC:20819 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 CACRC Summary Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in flagellated sperm motility; sodium ion transport; and sperm capacitation. Predicted to be located in plasma membrane. Predicted to be part of CatSper complex. Predicted to be active in acrosomal vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 12.5) and kidney (RPKM 0.5) See more Orthologs mouse all
CATSPER4, Official Symbol CATSPER4provided by HGNC Official Full Name cation channel sperm associated 4provided by HGNC Primary source HGNC:HGNC:23220 See related Ensembl:ENSG00000188782 MIM:609121; AllianceGenome:HGNC:23220 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 voltage-gated calcium channel activity. Predicted to be involved in flagellated sperm motility; sodium ion transport; and sperm capacitation. Predicted to be located in plasma membrane. Predicted to be part of CatSper complex. Predicted to be active in acrosomal vesicle and sperm principal piece. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 2.4) See more Orthologs mouse all
CATSPERB, Official Symbol CATSPERBprovided by HGNC Official Full Name cation channel sperm associated auxiliary subunit betaprovided by HGNC Primary source HGNC:HGNC:20500 See related Ensembl:ENSG00000133962 MIM:611169; AllianceGenome:HGNC:20500 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 C14orf161; CatSper(beta) Summary Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in plasma membrane. Predicted to be part of CatSper complex. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 2.2), gall bladder (RPKM 1.6) and 12 other tissues See more Orthologs mouse all
CATSPERD, Official Symbol CATSPERDprovided by HGNC Official Full Name cation channel sperm associated auxiliary subunit deltaprovided by HGNC Primary source HGNC:HGNC:28598 See related Ensembl:ENSG00000174898 MIM:617490; AllianceGenome:HGNC:28598 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 TMEM146 Summary Predicted to be involved in flagellated sperm motility and sperm capacitation. Predicted to be located in sperm principal piece. Predicted to be part of CatSper complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 5.1) See more Orthologs mouse all
CATSPERE, Official Symbol CATSPEREprovided by HGNC Official Full Name catsper channel auxiliary subunit epsilonprovided by HGNC Primary source HGNC:HGNC:28491 See related Ensembl:ENSG00000179397 MIM:617510; AllianceGenome:HGNC:28491 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 C1orf101; C10orf101 Summary Located in sperm principal piece. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 9.2) and bone marrow (RPKM 0.5) See more Orthologs mouse all
CATSPERG, Official Symbol CATSPERGprovided by HGNC Official Full Name cation channel sperm associated auxiliary subunit gammaprovided by HGNC Primary source HGNC:HGNC:25243 See related Ensembl:ENSG00000099338 MIM:613452; AllianceGenome:HGNC:25243 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 C19orf15 Summary CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010] Expression Restricted expression toward testis (RPKM 11.5) See more Orthologs mouse all
CATSPERZ, Official Symbol CATSPERZprovided by HGNC Official Full Name catsper channel auxiliary subunit zetaprovided by HGNC Primary source HGNC:HGNC:19231 See related Ensembl:ENSG00000219435 MIM:617511; AllianceGenome:HGNC:19231 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 TEX40; C11orf20 Summary Predicted to be involved in flagellated sperm motility; male meiotic nuclear division; and sperm capacitation. Located in cytoplasm and sperm principal piece. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 183.9) See more Orthologs mouse all
CAV1, Official Symbol CAV1provided by HGNC Official Full Name caveolin 1provided by HGNC Primary source HGNC:HGNC:1527 See related Ensembl:ENSG00000105974 MIM:601047; AllianceGenome:HGNC:1527 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 CGL3; PPH3; BSCL3; LCCNS; VIP21; MSTP085 Summary The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010] Expression Biased expression in fat (RPKM 322.1), lung (RPKM 308.8) and 13 other tissues See more Orthologs mouse all
CAV2, Official Symbol CAV2provided by HGNC Official Full Name caveolin 2provided by HGNC Primary source HGNC:HGNC:1528 See related Ensembl:ENSG00000105971 MIM:601048; AllianceGenome:HGNC:1528 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 CAV Summary The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011] Expression Broad expression in fat (RPKM 133.6), lung (RPKM 106.3) and 17 other tissues See more Orthologs mouse all
CAV3, Official Symbol CAV3provided by HGNC Official Full Name caveolin 3provided by HGNC Primary source HGNC:HGNC:1529 See related Ensembl:ENSG00000182533 MIM:601253; AllianceGenome:HGNC:1529 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 LQT9; MPDT; RMD2; VIP21; LGMD1C; VIP-21 Summary This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 7.8), esophagus (RPKM 2.8) and 1 other tissue See more Orthologs mouse all
CAVIN1, Official Symbol CAVIN1provided by HGNC Official Full Name caveolae associated protein 1provided by HGNC Primary source HGNC:HGNC:9688 See related Ensembl:ENSG00000177469 MIM:603198; AllianceGenome:HGNC:9688 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 CGL4; PTRF; CAVIN; FKSG13; cavin-1 Summary This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009] Expression Broad expression in fat (RPKM 182.5), lung (RPKM 83.2) and 21 other tissues See more Orthologs mouse all
CAVIN2, Official Symbol CAVIN2provided by HGNC Official Full Name caveolae associated protein 2provided by HGNC Primary source HGNC:HGNC:10690 See related Ensembl:ENSG00000168497 MIM:606728; AllianceGenome:HGNC:10690 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 SDR; SDPR; PS-p68; cavin-2 Summary This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 2009] Expression Broad expression in fat (RPKM 116.9), lung (RPKM 67.0) and 17 other tissues See more Orthologs mouse all
CAVIN3, Official Symbol CAVIN3provided by HGNC Official Full Name caveolae associated protein 3provided by HGNC Primary source HGNC:HGNC:9400 See related Ensembl:ENSG00000170955 MIM:618303; AllianceGenome:HGNC:9400 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 SRBC; HSRBC; PRKCDBP; cavin-3 Summary The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 24.8), testis (RPKM 13.9) and 19 other tissues See more Orthologs mouse all
CAVIN4, Official Symbol CAVIN4provided by HGNC Official Full Name caveolae associated protein 4provided by HGNC Primary source HGNC:HGNC:33742 See related Ensembl:ENSG00000170681 MIM:617714; AllianceGenome:HGNC:33742 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 MURC; cavin-4 Summary This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013] Expression Biased expression in heart (RPKM 18.1), prostate (RPKM 5.6) and 2 other tissues See more Orthologs mouse all
CBARP, Official Symbol CBARPprovided by HGNC Official Full Name CACN subunit beta associated regulatory proteinprovided by HGNC Primary source HGNC:HGNC:28617 See related Ensembl:ENSG00000099625 AllianceGenome:HGNC:28617 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 DOS; BARP; C19orf26 Summary Predicted to enable transmembrane transporter binding activity. Predicted to be involved in negative regulation of calcium ion-dependent exocytosis and negative regulation of voltage-gated calcium channel activity. Predicted to be located in synaptic vesicle membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. Predicted to colocalize with growth cone and secretory granule. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 2.8), adrenal (RPKM 1.1) and 12 other tissues See more Orthologs mouse all