CACNA2D4

Calcium channel, voltage-dependent, alpha 2/delta subunit 4 is a protein that in humans is encoded by the CACNA2D4 gene.

CACNA2D4
Identifiers
Aliases	CACNA2D4, RCD4, calcium voltage-gated channel auxiliary subunit alpha2delta 4
External IDs	OMIM: 608171; MGI: 2442632; HomoloGene: 26544; GeneCards: CACNA2D4; OMA:CACNA2D4 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12p13.33 Start 1,791,963 bp End 1,918,666 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6|6 F1 Start 119,213,487 bp End 119,329,368 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte blood testicle right testis appendix left testis tibial nerve gonad subcutaneous adipose tissue Top expressed in neural layer of retina epithelium of lens pineal gland otolith organ utricle retinal pigment epithelium tibialis anterior muscle muscle of thigh blood vastus lateralis muscle More reference expression data BioGPS n/a
Gene ontology Molecular function voltage-gated calcium channel activity metal ion binding voltage-gated ion channel activity calcium channel activity Cellular component voltage-gated calcium channel complex integral component of membrane plasma membrane membrane Biological process regulation of ion transmembrane transport ion transport calcium ion transmembrane transport detection of light stimulus involved in visual perception calcium ion transport cardiac conduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 93589 319734 Ensembl ENSG00000151062 ENSG00000284953 ENSMUSG00000041460 UniProt Q7Z3S7 Q5RJF7 RefSeq (mRNA) NM_001005737 NM_001005766 NM_172364 NM_001033382 NM_001347427 NM_001362214 RefSeq (protein) NP_758952 NP_001028554 NP_001334356 NP_001349143 NP_001391287 NP_001391288 NP_001391289 NP_001391290 Location (UCSC) Chr 12: 1.79 – 1.92 Mb Chr 6: 119.21 – 119.33 Mb PubMed search
Wikidata
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Function

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.

Further reading

• Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W (November 2006). "Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy". American Journal of Human Genetics. 79 (5): 973–7. doi:10.1086/508944. PMC 1698577. PMID 17033974.
• Van Den Bossche MJ, Strazisar M, De Bruyne S, Bervoets C, Lenaerts AS, De Zutter S, Nordin A, Norrback KF, Goossens D, De Rijk P, Green EK, Grozeva D, Mendlewicz J, Craddock N, Sabbe BG, Adolfsson R, Souery D, Del-Favero J (June 2012). "Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders". American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 159B (4): 465–75. doi:10.1002/ajmg.b.32053. PMID 22488967. S2CID 20098593.
• McGue M, Zhang Y, Miller MB, Basu S, Vrieze S, Hicks B, Malone S, Oetting WS, Iacono WG (September 2013). "A genome-wide association study of behavioral disinhibition". Behavior Genetics. 43 (5): 363–73. doi:10.1007/s10519-013-9606-x. PMC 3886341. PMID 23942779.
• Qin N, Yagel S, Momplaisir ML, Codd EE, D'Andrea MR (September 2002). "Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit". Molecular Pharmacology. 62 (3): 485–96. doi:10.1124/mol.62.3.485. PMID 12181424.

External links

• Human CACNA2D4 genome location and CACNA2D4 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.