psui3905/ncbi_genes_summary huggingface dataset:
CAMK1G, Official Symbol CAMK1Gprovided by HGNC Official Full Name calcium/calmodulin dependent protein kinase IGprovided by HGNC Primary source HGNC:HGNC:14585 See related Ensembl:ENSG00000008118 MIM:614994; AllianceGenome:HGNC:14585 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 VWS1; CLICK3; CLICKIII Summary Predicted to enable calmodulin binding activity and calmodulin-dependent protein kinase activity. Predicted to be involved in peptidyl-serine phosphorylation. Predicted to be located in endomembrane system. Predicted to be part of calcium- and calmodulin-dependent protein kinase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in ovary (RPKM 11.3), brain (RPKM 11.2) and 5 other tissues See more Orthologs mouse all
CAMK2A, Official Symbol CAMK2Aprovided by HGNC Official Full Name calcium/calmodulin dependent protein kinase II alphaprovided by HGNC Primary source HGNC:HGNC:1460 See related Ensembl:ENSG00000070808 MIM:114078; AllianceGenome:HGNC:1460 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 CAMKA; MRD53; MRT63; CaMKIIalpha; CaMKIINalpha Summary The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018] Expression Restricted expression toward brain (RPKM 112.2) See more Orthologs mouse all
CAMK2B, Official Symbol CAMK2Bprovided by HGNC Official Full Name calcium/calmodulin dependent protein kinase II betaprovided by HGNC Primary source HGNC:HGNC:1461 See related Ensembl:ENSG00000058404 MIM:607707; AllianceGenome:HGNC:1461 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 CAM2; CAMK2; CAMKB; MRD54; CaMKIIbeta Summary The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] Expression Biased expression in brain (RPKM 44.0), heart (RPKM 16.4) and 2 other tissues See more Orthologs mouse all
CAMK2D, Official Symbol CAMK2Dprovided by HGNC Official Full Name calcium/calmodulin dependent protein kinase II deltaprovided by HGNC Primary source HGNC:HGNC:1462 See related Ensembl:ENSG00000145349 MIM:607708; AllianceGenome:HGNC:1462 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 CAMKD Summary The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008] Expression Ubiquitous expression in heart (RPKM 23.1), brain (RPKM 14.9) and 24 other tissues See more Orthologs mouse all
CAMK2G, Official Symbol CAMK2Gprovided by HGNC Official Full Name calcium/calmodulin dependent protein kinase II gammaprovided by HGNC Primary source HGNC:HGNC:1463 See related Ensembl:ENSG00000148660 MIM:602123; AllianceGenome:HGNC:1463 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 CAMK; CAMKG; MRD59; CAMK-II Summary The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011] Expression Ubiquitous expression in brain (RPKM 28.7), prostate (RPKM 10.9) and 24 other tissues See more Orthologs mouse all
CAMK2N1, Official Symbol CAMK2N1provided by HGNC Official Full Name calcium/calmodulin dependent protein kinase II inhibitor 1provided by HGNC Primary source HGNC:HGNC:24190 See related Ensembl:ENSG00000162545 MIM:614986; AllianceGenome:HGNC:24190 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 PRO1489 Summary Enables calcium-dependent protein kinase inhibitor activity and protein kinase binding activity. Involved in several processes, including negative regulation of ERK1 and ERK2 cascade; negative regulation of cell population proliferation; and negative regulation of cellular protein metabolic process. Predicted to be located in synapse. Implicated in ovarian cancer; ovarian carcinoma; and prostate adenocarcinoma. Biomarker of hepatocellular carcinoma; oral squamous cell carcinoma; prostate cancer; and thyroid gland papillary carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 113.3), colon (RPKM 48.8) and 15 other tissues See more Orthologs mouse all
CAMK2N2, Official Symbol CAMK2N2provided by HGNC Official Full Name calcium/calmodulin dependent protein kinase II inhibitor 2provided by HGNC Primary source HGNC:HGNC:24197 See related Ensembl:ENSG00000163888 MIM:608721; AllianceGenome:HGNC:24197 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 CAMKIIN; CAM-KIIN Summary This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 13.3), adrenal (RPKM 4.9) and 1 other tissue See more Orthologs mouse all
CAMK4, Official Symbol CAMK4provided by HGNC Official Full Name calcium/calmodulin dependent protein kinase IVprovided by HGNC Primary source HGNC:HGNC:1464 See related Ensembl:ENSG00000152495 MIM:114080; AllianceGenome:HGNC:1464 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 caMK; CaMKIV; CaMK IV; CaMK-GR Summary The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 7.0), lymph node (RPKM 3.7) and 21 other tissues See more Orthologs mouse all
CAMKK1, Official Symbol CAMKK1provided by HGNC Official Full Name calcium/calmodulin dependent protein kinase kinase 1provided by HGNC Primary source HGNC:HGNC:1469 See related Ensembl:ENSG00000004660 MIM:611411; AllianceGenome:HGNC:1469 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 CAMKKA Summary The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 12.8), salivary gland (RPKM 4.6) and 24 other tissues See more Orthologs mouse all
CAMKK2, Official Symbol CAMKK2provided by HGNC Official Full Name calcium/calmodulin dependent protein kinase kinase 2provided by HGNC Primary source HGNC:HGNC:1470 See related Ensembl:ENSG00000110931 MIM:615002; AllianceGenome:HGNC:1470 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 CAMKK; CAMKKB Summary The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in brain (RPKM 24.4), spleen (RPKM 11.0) and 24 other tissues See more Orthologs mouse all
CAMKMT, Official Symbol CAMKMTprovided by HGNC Official Full Name calmodulin-lysine N-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:26276 See related Ensembl:ENSG00000143919 MIM:609559; AllianceGenome:HGNC:26276 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 Cam; KMT; CLNMT; C2orf34; CaM KMT Summary This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
CAMKV, Official Symbol CAMKVprovided by HGNC Official Full Name CaM kinase like vesicle associatedprovided by HGNC Primary source HGNC:HGNC:28788 See related Ensembl:ENSG00000164076 MIM:614993; AllianceGenome:HGNC:28788 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 1G5; VACAMKL Summary Predicted to enable calmodulin binding activity and calmodulin-dependent protein kinase activity. Predicted to be involved in peptidyl-serine phosphorylation. Predicted to be located in cytoplasmic vesicle membrane and plasma membrane. Predicted to be active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward brain (RPKM 33.0) See more Orthologs mouse all
CAMLG, Official Symbol CAMLGprovided by HGNC Official Full Name calcium modulating ligandprovided by HGNC Primary source HGNC:HGNC:1471 See related Ensembl:ENSG00000164615 MIM:601118; AllianceGenome:HGNC:1471 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 CAML; GET2; CDG2Z Summary The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 22.3), ovary (RPKM 21.6) and 25 other tissues See more Orthologs mouse all
CAMP, Official Symbol CAMPprovided by HGNC Official Full Name cathelicidin antimicrobial peptideprovided by HGNC Primary source HGNC:HGNC:1472 See related Ensembl:ENSG00000164047 MIM:600474; AllianceGenome:HGNC:1472 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 LL37; CAP18; CRAMP; HSD26; CAP-18; FALL39; FALL-39 Summary This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. The protein plays an important role in innate immunity defense against viruses. In addition to its antibacterial, antifungal, and antiviral activities, the encoded protein functions in cell chemotaxis, immune mediator induction, and inflammatory response regulation. [provided by RefSeq, Sep 2021] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Restricted expression toward bone marrow (RPKM 591.5) See more Orthologs mouse all
CAMSAP1, Official Symbol CAMSAP1provided by HGNC Official Full Name calmodulin regulated spectrin associated protein 1provided by HGNC Primary source HGNC:HGNC:19946 See related Ensembl:ENSG00000130559 MIM:613774; AllianceGenome:HGNC:19946 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 CDCBM12 Summary Enables microtubule minus-end binding activity and spectrin binding activity. Involved in several processes, including neuron projection development; regulation of cell morphogenesis; and regulation of microtubule polymerization. Located in microtubule. Colocalizes with microtubule minus-end. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 12.5), brain (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
CAMSAP2, Official Symbol CAMSAP2provided by HGNC Official Full Name calmodulin regulated spectrin associated protein family member 2provided by HGNC Primary source HGNC:HGNC:29188 See related Ensembl:ENSG00000118200 MIM:613775; AllianceGenome:HGNC:29188 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 CAMSAP1L1 Summary Enables microtubule minus-end binding activity. Involved in several processes, including axon development; regulation of dendrite development; and regulation of organelle organization. Located in cytosol and microtubule end. Colocalizes with Golgi apparatus; centrosome; and microtubule minus-end. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 24.6), thyroid (RPKM 11.0) and 23 other tissues See more Orthologs mouse all
CAMSAP3, Official Symbol CAMSAP3provided by HGNC Official Full Name calmodulin regulated spectrin associated protein family member 3provided by HGNC Primary source HGNC:HGNC:29307 See related Ensembl:ENSG00000076826 MIM:612685; AllianceGenome:HGNC:29307 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 NEZHA; PPP1R80; KIAA1543 Summary Enables actin filament binding activity and microtubule minus-end binding activity. Involved in several processes, including microtubule cytoskeleton organization; regulation of organelle organization; and zonula adherens maintenance. Located in cytoplasm; nucleoplasm; and zonula adherens. Colocalizes with centrosome and microtubule minus-end. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 9.2), duodenum (RPKM 7.0) and 18 other tissues See more Orthologs mouse all
CAMTA1, Official Symbol CAMTA1provided by HGNC Official Full Name calmodulin binding transcription activator 1provided by HGNC Primary source HGNC:HGNC:18806 See related Ensembl:ENSG00000171735 MIM:611501; AllianceGenome:HGNC:18806 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 CECBA; CANPMR Summary The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017] Expression Ubiquitous expression in brain (RPKM 5.0), adrenal (RPKM 1.5) and 24 other tissues See more Orthologs mouse all
CAMTA1-AS2, Official Symbol CAMTA1-AS2provided by HGNC Official Full Name CAMTA1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40855 See related Ensembl:ENSG00000237728 AllianceGenome:HGNC:40855 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 Restricted expression toward testis (RPKM 3.4) See more
CAMTA1-DT, Official Symbol CAMTA1-DTprovided by HGNC Official Full Name CAMTA1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:53020 See related AllianceGenome:HGNC:53020 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 lncCAMTA1
CAMTA1-IT1, Official Symbol CAMTA1-IT1provided by HGNC Official Full Name CAMTA1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41446 See related AllianceGenome:HGNC:41446 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
CAMTA2, Official Symbol CAMTA2provided by HGNC Official Full Name calmodulin binding transcription activator 2provided by HGNC Primary source HGNC:HGNC:18807 See related Ensembl:ENSG00000108509 MIM:611508; AllianceGenome:HGNC:18807 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 The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010] Expression Ubiquitous expression in brain (RPKM 16.2), testis (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
CAND1, Official Symbol CAND1provided by HGNC Official Full Name cullin associated and neddylation dissociated 1provided by HGNC Primary source HGNC:HGNC:30688 See related Ensembl:ENSG00000111530 MIM:607727; AllianceGenome:HGNC:30688 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 TIP120; TIP120A Summary This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in brain (RPKM 22.8), testis (RPKM 22.7) and 25 other tissues See more Orthologs mouse all
CAND2, Official Symbol CAND2provided by HGNC Official Full Name cullin associated and neddylation dissociated 2 (putative)provided by HGNC Primary source HGNC:HGNC:30689 See related Ensembl:ENSG00000144712 MIM:610403; AllianceGenome:HGNC:30689 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 Tp120b; TIP120B Summary Predicted to enable TBP-class protein binding activity. Predicted to be involved in SCF complex assembly; positive regulation of transcription, DNA-templated; and protein ubiquitination. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in heart (RPKM 9.1), testis (RPKM 8.9) and 16 other tissues See more Orthologs mouse all
CANT1, Official Symbol CANT1provided by HGNC Official Full Name calcium activated nucleotidase 1provided by HGNC Primary source HGNC:HGNC:19721 See related Ensembl:ENSG00000171302 MIM:613165; AllianceGenome:HGNC:19721 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 DBQD; EDM7; DBQD1; SCAN1; SHAPY; SCAN-1 Summary This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010] Expression Broad expression in colon (RPKM 44.8), prostate (RPKM 33.6) and 24 other tissues See more Orthologs mouse all
CANX, Official Symbol CANXprovided by HGNC Official Full Name calnexinprovided by HGNC Primary source HGNC:HGNC:1473 See related Ensembl:ENSG00000127022 MIM:114217; AllianceGenome:HGNC:1473 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 CNX; P90; IP90 Summary This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2018] Expression Ubiquitous expression in thyroid (RPKM 267.4), placenta (RPKM 108.5) and 25 other tissues See more Orthologs mouse all
CAP1, Official Symbol CAP1provided by HGNC Official Full Name cyclase associated actin cytoskeleton regulatory protein 1provided by HGNC Primary source HGNC:HGNC:20040 See related Ensembl:ENSG00000131236 MIM:617801; AllianceGenome:HGNC:20040 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 CAP; CAP1-PEN Summary The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2016] Expression Ubiquitous expression in appendix (RPKM 105.5), lymph node (RPKM 89.3) and 25 other tissues See more Orthologs mouse all
CAP1P1, Official Symbol CAP1P1provided by HGNC Official Full Name CAP1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31134 See related Ensembl:ENSG00000240809 AllianceGenome:HGNC:31134 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CAP1P2, Official Symbol CAP1P2provided by HGNC Official Full Name CAP1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:31970 See related Ensembl:ENSG00000232004 AllianceGenome:HGNC:31970 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CAP2, Official Symbol CAP2provided by HGNC Official Full Name cyclase associated actin cytoskeleton regulatory protein 2provided by HGNC Primary source HGNC:HGNC:20039 See related Ensembl:ENSG00000112186 MIM:618385; AllianceGenome:HGNC:20039 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 CMD2I Summary This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 40.2), heart (RPKM 39.1) and 15 other tissues See more Orthologs mouse all
CAP2P1, Official Symbol CAP2P1provided by HGNC Official Full Name cyclase associated actin cytoskeleton regulatory protein 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:20142 See related Ensembl:ENSG00000259151 AllianceGenome:HGNC:20142 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CAPG, Official Symbol CAPGprovided by HGNC Official Full Name capping actin protein, gelsolin likeprovided by HGNC Primary source HGNC:HGNC:1474 See related Ensembl:ENSG00000042493 MIM:153615; AllianceGenome:HGNC:1474 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 MCP; AFCP; HEL-S-66 Summary This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in lung (RPKM 44.7), esophagus (RPKM 37.5) and 22 other tissues See more Orthologs mouse all
CAPN1, Official Symbol CAPN1provided by HGNC Official Full Name calpain 1provided by HGNC Primary source HGNC:HGNC:1476 See related Ensembl:ENSG00000014216 MIM:114220; AllianceGenome:HGNC:1476 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 CANP; muCL; CANP1; SPG76; CANPL1; muCANP Summary The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in esophagus (RPKM 94.2), skin (RPKM 48.8) and 24 other tissues See more Orthologs mouse all
CAPN10, Official Symbol CAPN10provided by HGNC Official Full Name calpain 10provided by HGNC Primary source HGNC:HGNC:1477 See related Ensembl:ENSG00000142330 MIM:605286; AllianceGenome:HGNC:1477 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 CANP10; NIDDM1 Summary Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010] Expression Ubiquitous expression in spleen (RPKM 8.4), testis (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
CAPN10-DT, Official Symbol CAPN10-DTprovided by HGNC Official Full Name CAPN10 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:48839 See related Ensembl:ENSG00000260942 AllianceGenome:HGNC:48839 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 locus959; CAPN10-AS1
CAPN11, Official Symbol CAPN11provided by HGNC Official Full Name calpain 11provided by HGNC Primary source HGNC:HGNC:1478 See related Ensembl:ENSG00000137225 MIM:604822; AllianceGenome:HGNC:1478 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 calpain11 Summary Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008] Expression Restricted expression toward testis (RPKM 18.7) See more Orthologs mouse all
CAPN12, Official Symbol CAPN12provided by HGNC Official Full Name calpain 12provided by HGNC Primary source HGNC:HGNC:13249 See related Ensembl:ENSG00000182472 MIM:608839; AllianceGenome:HGNC:13249 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 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in gall bladder (RPKM 14.2), spleen (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
CAPN13, Official Symbol CAPN13provided by HGNC Official Full Name calpain 13provided by HGNC Primary source HGNC:HGNC:16663 See related Ensembl:ENSG00000162949 MIM:610228; AllianceGenome:HGNC:16663 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 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012] Expression Biased expression in small intestine (RPKM 8.2), duodenum (RPKM 5.3) and 6 other tissues See more Orthologs mouse all
CAPN14, Official Symbol CAPN14provided by HGNC Official Full Name calpain 14provided by HGNC Primary source HGNC:HGNC:16664 See related Ensembl:ENSG00000214711 MIM:610229; AllianceGenome:HGNC:16664 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 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008] Expression Restricted expression toward esophagus (RPKM 73.0) See more Orthologs all
CAPN15, Official Symbol CAPN15provided by HGNC Official Full Name calpain 15provided by HGNC Primary source HGNC:HGNC:11182 See related Ensembl:ENSG00000103326 MIM:603267; AllianceGenome:HGNC:11182 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 OGIN; SOLH Summary This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 5.1), spleen (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
CAPN2, Official Symbol CAPN2provided by HGNC Official Full Name calpain 2provided by HGNC Primary source HGNC:HGNC:1479 See related Ensembl:ENSG00000162909 MIM:114230; AllianceGenome:HGNC:1479 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 CANP2; mCANP; CANPL2; CANPml Summary The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in lung (RPKM 90.0), gall bladder (RPKM 66.0) and 25 other tissues See more Orthologs mouse all
CAPN3, Official Symbol CAPN3provided by HGNC Official Full Name calpain 3provided by HGNC Primary source HGNC:HGNC:1480 See related Ensembl:ENSG00000092529 MIM:114240; AllianceGenome:HGNC:1480 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 p94; CANP3; LGMD2; nCL-1; CANPL3; LGMD2A; LGMDD4; LGMDR1 Summary Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 19.1), kidney (RPKM 13.9) and 24 other tissues See more Orthologs mouse all
CAPN5, Official Symbol CAPN5provided by HGNC Official Full Name calpain 5provided by HGNC Primary source HGNC:HGNC:1482 See related Ensembl:ENSG00000149260 MIM:602537; AllianceGenome:HGNC:1482 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 VRNI; ADNIV; HTRA3; nCL-3 Summary Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 33.5), duodenum (RPKM 28.3) and 19 other tissues See more Orthologs mouse all
CAPN6, Official Symbol CAPN6provided by HGNC Official Full Name calpain 6provided by HGNC Primary source HGNC:HGNC:1483 See related Ensembl:ENSG00000077274 MIM:300146; AllianceGenome:HGNC:1483 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 CANPX; CAPNX; CalpM; DJ914P14.1 Summary Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009] Expression Biased expression in placenta (RPKM 59.5), endometrium (RPKM 13.7) and 5 other tissues See more Orthologs mouse all
CAPN7, Official Symbol CAPN7provided by HGNC Official Full Name calpain 7provided by HGNC Primary source HGNC:HGNC:1484 See related Ensembl:ENSG00000131375 MIM:606400; AllianceGenome:HGNC:1484 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 PALBH; CALPAIN7 Summary Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 16.5), ovary (RPKM 11.2) and 25 other tissues See more Orthologs mouse all
CAPN8, Official Symbol CAPN8provided by HGNC Official Full Name calpain 8provided by HGNC Primary source HGNC:HGNC:1485 See related Ensembl:ENSG00000203697 MIM:618777; AllianceGenome:HGNC:1485 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 nCL-2 Summary Predicted to enable calcium-dependent cysteine-type endopeptidase activity and identical protein binding activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within calcium-dependent self proteolysis. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: This gene aligns across a gap in the GRCh38 reference genome assembly, and therefore, the 5' end of this gene was annotated on NT_167186.2 and the 3' end was annotated on NT_004487.20 in NCBI's Homo sapiens Annotation Release 106. [17 Jun 2014] Annotation category: suggests misassembly Expression Biased expression in stomach (RPKM 65.0), lung (RPKM 7.1) and 2 other tissues See more Orthologs mouse all
CAPN9, Official Symbol CAPN9provided by HGNC Official Full Name calpain 9provided by HGNC Primary source HGNC:HGNC:1486 See related Ensembl:ENSG00000135773 MIM:606401; AllianceGenome:HGNC:1486 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 GC36; nCL-4 Summary Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 15.1), colon (RPKM 3.9) and 3 other tissues See more Orthologs mouse all