CACNA2D4
| CACNA2D4 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | CACNA2D4, RCD4, calcium voltage-gated channel auxiliary subunit alpha2delta 4 | |||||
| External IDs | MGI: 2442632 HomoloGene: 26544 GeneCards: CACNA2D4 | |||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez | ||||||
| Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 12: 1.79 – 1.92 Mb | Chr 6: 119.24 – 119.35 Mb | ||||
| PubMed search | [1] | [2] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
Calcium channel, voltage-dependent, alpha 2/delta subunit 4 is a protein that in humans is encoded by the CACNA2D4 gene. [3]
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. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BX537437.1, AF516695.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END##
References
Further reading
- Wycisk, K. A.; Zeitz, C; Feil, S; Wittmer, M; Forster, U; Neidhardt, J; Wissinger, B; Zrenner, E; Wilke, R; Kohl, S; Berger, W (2006). "Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy". The American Journal of Human Genetics. 79 (5): 973–7. doi:10.1086/508944. PMC 1698577
. PMID 17033974. - Van Den Bossche, M. J.; Strazisar, M; De Bruyne, S; Bervoets, C; Lenaerts, A. S.; De Zutter, S; Nordin, A; Norrback, K. F.; Goossens, D; De Rijk, P; Green, E. K.; Grozeva, D; Mendlewicz, J; Craddock, N; Sabbe, B. G.; Adolfsson, R; Souery, D; Del-Favero, J (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. 159B (4): 465–75. doi:10.1002/ajmg.b.32053. PMID 22488967.
- McGue, M; Zhang, Y; Miller, M. B.; Basu, S; Vrieze, S; Hicks, B; Malone, S; Oetting, W. S.; Iacono, W. G. (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, M. L.; Codd, E. E.; d'Andrea, M. R. (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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.