psui3905/ncbi_genes_summary huggingface dataset:
CAB39P1, Official Symbol CAB39P1provided by HGNC Official Full Name calcium binding protein 39 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51641 See related Ensembl:ENSG00000251303 AllianceGenome:HGNC:51641 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CABCOCO1, Official Symbol CABCOCO1provided by HGNC Official Full Name ciliary associated calcium binding coiled-coil 1provided by HGNC Primary source HGNC:HGNC:28678 See related Ensembl:ENSG00000183346 AllianceGenome:HGNC:28678 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 ARIEL; C10orf107 Summary Predicted to enable calcium ion binding activity. Predicted to be located in centrosome; cytoplasm; and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 3.4), lung (RPKM 1.5) and 7 other tissues See more Orthologs mouse all
CABIN1, Official Symbol CABIN1provided by HGNC Official Full Name calcineurin binding protein 1provided by HGNC Primary source HGNC:HGNC:24187 See related Ensembl:ENSG00000099991 MIM:604251; AllianceGenome:HGNC:24187 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 CAIN; PPP3IN; KB-318B8.7 Summary Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in thyroid (RPKM 6.8), testis (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
CABLES1, Official Symbol CABLES1provided by HGNC Official Full Name Cdk5 and Abl enzyme substrate 1provided by HGNC Primary source HGNC:HGNC:25097 See related Ensembl:ENSG00000134508 MIM:609194; AllianceGenome:HGNC:25097 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 CABL1; IK3-1; CABLES; HsT2563 Summary This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in lung (RPKM 9.3), fat (RPKM 7.7) and 24 other tissues See more Orthologs mouse all
CABLES2, Official Symbol CABLES2provided by HGNC Official Full Name Cdk5 and Abl enzyme substrate 2provided by HGNC Primary source HGNC:HGNC:16143 See related Ensembl:ENSG00000149679 MIM:618772; AllianceGenome:HGNC:16143 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 ik3-2; C20orf150; dJ908M14.2 Summary Predicted to be involved in cell division and regulation of cell cycle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 25.7), heart (RPKM 3.5) and 19 other tissues See more Orthologs mouse all
CABP1, Official Symbol CABP1provided by HGNC Official Full Name calcium binding protein 1provided by HGNC Primary source HGNC:HGNC:1384 See related Ensembl:ENSG00000157782 MIM:605563; AllianceGenome:HGNC:1384 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 CALBRAIN; HCALB_BR Summary Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. [provided by RefSeq, Jul 2012] Expression Biased expression in brain (RPKM 5.5), fat (RPKM 2.2) and 5 other tissues See more Orthologs mouse all
CABP2, Official Symbol CABP2provided by HGNC Official Full Name calcium binding protein 2provided by HGNC Primary source HGNC:HGNC:1385 See related Ensembl:ENSG00000167791 MIM:607314; AllianceGenome:HGNC:1385 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 DFNB93 Summary This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
CABP4, Official Symbol CABP4provided by HGNC Official Full Name calcium binding protein 4provided by HGNC Primary source HGNC:HGNC:1386 See related Ensembl:ENSG00000175544 MIM:608965; AllianceGenome:HGNC:1386 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 CRSD; CSNB2B Summary This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] Expression Biased expression in spleen (RPKM 2.4), prostate (RPKM 0.5) and 12 other tissues See more Orthologs all
CABP5, Official Symbol CABP5provided by HGNC Official Full Name calcium binding protein 5provided by HGNC Primary source HGNC:HGNC:13714 See related Ensembl:ENSG00000105507 MIM:607315; AllianceGenome:HGNC:13714 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 CABP3 Summary The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in adrenal (RPKM 2.1), brain (RPKM 1.8) and 23 other tissues See more Orthologs mouse all
CABP7, Official Symbol CABP7provided by HGNC Official Full Name calcium binding protein 7provided by HGNC Primary source HGNC:HGNC:20834 See related Ensembl:ENSG00000100314 MIM:618759; AllianceGenome:HGNC:20834 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 CALN2 Summary Predicted to enable calcium ion binding activity. Located in trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 1.8), brain (RPKM 1.7) and 25 other tissues See more Orthologs mouse all
CABS1, Official Symbol CABS1provided by HGNC Official Full Name calcium binding protein, spermatid associated 1provided by HGNC Primary source HGNC:HGNC:30710 See related Ensembl:ENSG00000145309 MIM:618600; AllianceGenome:HGNC:30710 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 CLPH; C4orf35; NYD-SP26 Summary Predicted to enable calcium ion binding activity. Predicted to be involved in flagellated sperm motility and spermatogenesis. Predicted to be located in acrosomal vesicle and sperm principal piece. Predicted to be active in mitochondrial inner membrane and motile cilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 46.0) See more Orthologs mouse all
CABYR, Official Symbol CABYRprovided by HGNC Official Full Name calcium binding tyrosine phosphorylation regulatedprovided by HGNC Primary source HGNC:HGNC:15569 See related Ensembl:ENSG00000154040 MIM:612135; AllianceGenome:HGNC:15569 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 CT88; FSP2; CBP86; FSP-2; CABYRa; CABYRc; CABYRe; CABYRc/d Summary To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013] Expression Restricted expression toward testis (RPKM 117.5) See more Orthologs mouse all
CABYRP1, Official Symbol CABYRP1provided by HGNC Official Full Name calcium binding tyrosine phosphorylation regulated pseudogene 1provided by HGNC Primary source HGNC:HGNC:31902 See related Ensembl:ENSG00000242983 AllianceGenome:HGNC:31902 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CABYRP
CACFD1, Official Symbol CACFD1provided by HGNC Official Full Name calcium channel flower domain containing 1provided by HGNC Primary source HGNC:HGNC:1365 See related Ensembl:ENSG00000160325 MIM:613104; AllianceGenome:HGNC:1365 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 C9orf7; FLOWER; D9S2135 Summary Predicted to be involved in vesicle-mediated transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in stomach (RPKM 8.2), colon (RPKM 7.0) and 25 other tissues See more Orthologs mouse all
CACHD1, Official Symbol CACHD1provided by HGNC Official Full Name cache domain containing 1provided by HGNC Primary source HGNC:HGNC:29314 See related Ensembl:ENSG00000158966 MIM:620144; AllianceGenome:HGNC:29314 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 calcium ion transmembrane transport. Predicted to be integral component of membrane. Predicted to be part of voltage-gated calcium channel complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 11.0), adrenal (RPKM 7.8) and 23 other tissues See more Orthologs mouse all
CACNA1A, Official Symbol CACNA1Aprovided by HGNC Official Full Name calcium voltage-gated channel subunit alpha1 Aprovided by HGNC Primary source HGNC:HGNC:1388 See related Ensembl:ENSG00000141837 MIM:601011; AllianceGenome:HGNC:1388 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 BI; EA2; FHM; MHP; APCA; HPCA; MHP1; SCA6; DEE42; CAV2.1; EIEE42; CACNL1A4 Summary Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016] Expression Biased expression in brain (RPKM 5.1), stomach (RPKM 1.8) and 6 other tissues See more Orthologs mouse all
CACNA1B, Official Symbol CACNA1Bprovided by HGNC Official Full Name calcium voltage-gated channel subunit alpha1 Bprovided by HGNC Primary source HGNC:HGNC:1389 See related Ensembl:ENSG00000148408 MIM:601012; AllianceGenome:HGNC:1389 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 BIII; CACNN; DYT23; Cav2.2; NEDNEH; CACNL1A5 Summary The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Expression Biased expression in brain (RPKM 4.9), testis (RPKM 2.2) and 1 other tissue See more Orthologs mouse all
CACNA1C, Official Symbol CACNA1Cprovided by HGNC Official Full Name calcium voltage-gated channel subunit alpha1 Cprovided by HGNC Primary source HGNC:HGNC:1390 See related Ensembl:ENSG00000151067 MIM:114205; AllianceGenome:HGNC:1390 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 TS; LQT8; CACH2; CACN2; CaV1.2; CCHL1A1; NEDHLSS; CACNL1A1; TS. LQT8; CACNA1C-IT2 Summary This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] Expression Broad expression in endometrium (RPKM 5.2), heart (RPKM 4.5) and 19 other tissues See more Orthologs mouse all
CACNA1C-AS1, Official Symbol CACNA1C-AS1provided by HGNC Official Full Name CACNA1C antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40119 See related Ensembl:ENSG00000246627 AllianceGenome:HGNC:40119 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 endometrium (RPKM 2.0), heart (RPKM 1.4) and 22 other tissues See more
CACNA1C-AS2, Official Symbol CACNA1C-AS2provided by HGNC Official Full Name CACNA1C antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40118 See related Ensembl:ENSG00000256271 AllianceGenome:HGNC:40118 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 heart (RPKM 1.8), endometrium (RPKM 1.6) and 24 other tissues See more
CACNA1C-AS3, Official Symbol CACNA1C-AS3provided by HGNC Official Full Name CACNA1C antisense RNA 3provided by HGNC Primary source HGNC:HGNC:40117 See related AllianceGenome:HGNC:40117 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
CACNA1C-AS4, Official Symbol CACNA1C-AS4provided by HGNC Official Full Name CACNA1C antisense RNA 4provided by HGNC Primary source HGNC:HGNC:40116 See related Ensembl:ENSG00000256025 AllianceGenome:HGNC:40116 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
CACNA1C-IT1, Official Symbol CACNA1C-IT1provided by HGNC Official Full Name CACNA1C intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41312 See related AllianceGenome:HGNC:41312 Gene type ncRNA RefSeq status MODEL 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
CACNA1C-IT3, Official Symbol CACNA1C-IT3provided by HGNC Official Full Name CACNA1C intronic transcript 3provided by HGNC Primary source HGNC:HGNC:41314 See related AllianceGenome:HGNC:41314 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 1.6) See more
CACNA1D, Official Symbol CACNA1Dprovided by HGNC Official Full Name calcium voltage-gated channel subunit alpha1 Dprovided by HGNC Primary source HGNC:HGNC:1391 See related Ensembl:ENSG00000157388 MIM:114206; AllianceGenome:HGNC:1391 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 CACH3; CACN4; PASNA; SANDD; Cav1.3; CCHL1A2; CACNL1A2 Summary Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Broad expression in adrenal (RPKM 4.1), lung (RPKM 2.3) and 16 other tissues See more Orthologs mouse all
CACNA1E, Official Symbol CACNA1Eprovided by HGNC Official Full Name calcium voltage-gated channel subunit alpha1 Eprovided by HGNC Primary source HGNC:HGNC:1392 See related Ensembl:ENSG00000198216 MIM:601013; AllianceGenome:HGNC:1392 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 BII; CACH6; DEE69; gm139; Cav2.3; EIEE69; CACNL1A6 Summary Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] Expression Biased expression in brain (RPKM 3.3), adrenal (RPKM 0.4) and 2 other tissues See more Orthologs mouse all
CACNA1F, Official Symbol CACNA1Fprovided by HGNC Official Full Name calcium voltage-gated channel subunit alpha1 Fprovided by HGNC Primary source HGNC:HGNC:1393 See related Ensembl:ENSG00000102001 MIM:300110; AllianceGenome:HGNC:1393 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 JM8; OA2; AIED; COD3; COD4; JMC8; CORDX; CSNB2; CORDX3; CSNB2A; CSNBX2; Cav1.4; Cav1.4alpha1 Summary This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013] Expression Low expression observed in reference dataset See more Orthologs mouse all
CACNA1G, Official Symbol CACNA1Gprovided by HGNC Official Full Name calcium voltage-gated channel subunit alpha1 Gprovided by HGNC Primary source HGNC:HGNC:1394 See related Ensembl:ENSG00000006283 MIM:604065; AllianceGenome:HGNC:1394 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 NBR13; SCA42; Cav3.1; SCA42ND; Ca(V)T.1 Summary Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011] Expression Biased expression in brain (RPKM 2.7), endometrium (RPKM 1.7) and 7 other tissues See more Orthologs mouse all
CACNA1G-AS1, Official Symbol CACNA1G-AS1provided by HGNC Official Full Name CACNA1G antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27377 See related Ensembl:ENSG00000250107 AllianceGenome:HGNC:27377 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 CAS1 Expression Low expression observed in reference dataset See more
CACNA1H, Official Symbol CACNA1Hprovided by HGNC Official Full Name calcium voltage-gated channel subunit alpha1 Hprovided by HGNC Primary source HGNC:HGNC:1395 See related Ensembl:ENSG00000196557 MIM:607904; AllianceGenome:HGNC:1395 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 ECA6; EIG6; HALD4; Cav3.2; CACNA1HB Summary This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 20.0), endometrium (RPKM 11.7) and 19 other tissues See more Orthologs mouse all
CACNA1I, Official Symbol CACNA1Iprovided by HGNC Official Full Name calcium voltage-gated channel subunit alpha1 Iprovided by HGNC Primary source HGNC:HGNC:1396 See related Ensembl:ENSG00000100346 MIM:608230; AllianceGenome:HGNC:1396 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 Cav3.3; NEDSIS; ca(v)3.3 Summary This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] Expression Biased expression in brain (RPKM 1.3), adrenal (RPKM 0.7) and 10 other tissues See more Orthologs mouse all
CACNA1S, Official Symbol CACNA1Sprovided by HGNC Official Full Name calcium voltage-gated channel subunit alpha1 Sprovided by HGNC Primary source HGNC:HGNC:1397 See related Ensembl:ENSG00000081248 MIM:114208; AllianceGenome:HGNC:1397 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 MHS5; DHPRM; HOKPP; TTPP1; CMYP18; Cav1.1; HOKPP1; hypoPP; CCHL1A3; CACNL1A3 Summary This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008] Expression Biased expression in esophagus (RPKM 1.7), prostate (RPKM 1.6) and 4 other tissues See more Orthologs mouse all
CACNA2D1, Official Symbol CACNA2D1provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit alpha2delta 1provided by HGNC Primary source HGNC:HGNC:1399 See related Ensembl:ENSG00000153956 MIM:114204; AllianceGenome:HGNC:1399 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 CACNA2; CCHL2A; DEE110; CACNL2A; LINC01112; lncRNA-N3 Summary The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014] Expression Broad expression in brain (RPKM 8.0), heart (RPKM 5.6) and 21 other tissues See more Orthologs mouse all
CACNA2D1-AS1, Official Symbol CACNA2D1-AS1provided by HGNC Official Full Name CACNA2D1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40120 See related Ensembl:ENSG00000223770 AllianceGenome:HGNC:40120 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
CACNA2D2, Official Symbol CACNA2D2provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit alpha2delta 2provided by HGNC Primary source HGNC:HGNC:1400 See related Ensembl:ENSG00000007402 MIM:607082; AllianceGenome:HGNC:1400 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 CASVDD; CACNA2D Summary Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] Expression Biased expression in lung (RPKM 29.8), testis (RPKM 5.0) and 4 other tissues See more Orthologs mouse all
CACNA2D3, Official Symbol CACNA2D3provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit alpha2delta 3provided by HGNC Primary source HGNC:HGNC:15460 See related Ensembl:ENSG00000157445 MIM:606399; AllianceGenome:HGNC:15460 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 HSA272268 Summary This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 3.0), adrenal (RPKM 1.8) and 16 other tissues See more Orthologs mouse all
CACNA2D3-AS1, Official Symbol CACNA2D3-AS1provided by HGNC Official Full Name CACNA2D3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40702 See related Ensembl:ENSG00000243715 AllianceGenome:HGNC:40702 Gene type ncRNA RefSeq status PREDICTED 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
CACNA2D4, Official Symbol CACNA2D4provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit alpha2delta 4provided by HGNC Primary source HGNC:HGNC:20202 See related Ensembl:ENSG00000151062 MIM:608171; AllianceGenome:HGNC:20202 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 RCD4 Summary This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 1.1), appendix (RPKM 1.0) and 24 other tissues See more Orthologs mouse all
CACNB1, Official Symbol CACNB1provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit beta 1provided by HGNC Primary source HGNC:HGNC:1401 See related Ensembl:ENSG00000067191 MIM:114207; AllianceGenome:HGNC:1401 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 CAB1; CCHLB1; CACNLB1 Summary The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 12.9), skin (RPKM 4.4) and 17 other tissues See more Orthologs mouse all
CACNB2, Official Symbol CACNB2provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit beta 2provided by HGNC Primary source HGNC:HGNC:1402 See related Ensembl:ENSG00000165995 MIM:600003; AllianceGenome:HGNC:1402 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 CAB2; MYSB; CAVB2; CACNLB2 Summary This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013] Expression Ubiquitous expression in brain (RPKM 4.0), adrenal (RPKM 2.4) and 25 other tissues See more Orthologs mouse all
CACNB3, Official Symbol CACNB3provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit beta 3provided by HGNC Primary source HGNC:HGNC:1403 See related Ensembl:ENSG00000167535 MIM:601958; AllianceGenome:HGNC:1403 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 CAB3; CACNLB3 Summary This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in endometrium (RPKM 10.3), ovary (RPKM 7.3) and 21 other tissues See more Orthologs mouse all
CACNB4, Official Symbol CACNB4provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit beta 4provided by HGNC Primary source HGNC:HGNC:1404 See related Ensembl:ENSG00000182389 MIM:601949; AllianceGenome:HGNC:1404 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 EA5; EJM; CAB4; EIG9; EJM4; EJM6; CACNLB4 Summary This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016] Expression Biased expression in brain (RPKM 5.9), skin (RPKM 2.0) and 8 other tissues See more Orthologs mouse all
CACNG1, Official Symbol CACNG1provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit gamma 1provided by HGNC Primary source HGNC:HGNC:1405 See related Ensembl:ENSG00000108878 MIM:114209; AllianceGenome:HGNC:1405 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 CACNLG Summary Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010] Expression Biased expression in esophagus (RPKM 1.9), prostate (RPKM 1.8) and 2 other tissues See more Orthologs mouse all
CACNG2, Official Symbol CACNG2provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit gamma 2provided by HGNC Primary source HGNC:HGNC:1406 See related Ensembl:ENSG00000166862 MIM:602911; AllianceGenome:HGNC:1406 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 MRD10 Summary The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 2017] Expression Restricted expression toward brain (RPKM 5.4) See more Orthologs mouse all
CACNG3, Official Symbol CACNG3provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit gamma 3provided by HGNC Primary source HGNC:HGNC:1407 See related Ensembl:ENSG00000006116 MIM:606403; AllianceGenome:HGNC:1407 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010] Expression Restricted expression toward brain (RPKM 19.9) See more Orthologs mouse all
CACNG4, Official Symbol CACNG4provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit gamma 4provided by HGNC Primary source HGNC:HGNC:1408 See related Ensembl:ENSG00000075461 MIM:606404; AllianceGenome:HGNC:1408 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] Expression Biased expression in brain (RPKM 19.4), prostate (RPKM 8.2) and 1 other tissue See more Orthologs mouse all
CACNG5, Official Symbol CACNG5provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit gamma 5provided by HGNC Primary source HGNC:HGNC:1409 See related Ensembl:ENSG00000075429 MIM:606405; AllianceGenome:HGNC:1409 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all