CACNA2D4

CACNA2D4
Identifiers
AliasesCACNA2D4, RCD4, calcium voltage-gated channel auxiliary subunit alpha2delta 4
External IDsMGI: 2442632 HomoloGene: 26544 GeneCards: CACNA2D4
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12p13.33Start1,791,957 bp[1]
End1,918,836 bp[1]
Orthologs
SpeciesHumanMouse
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

Location (UCSC)Chr 12: 1.79 – 1.92 MbChr 6: 119.24 – 119.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Calcium channel, voltage-dependent, alpha 2/delta subunit 4 is a protein that in humans is encoded by the CACNA2D4 gene.[5]

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.[5]

References

  1. 1 2 3 ENSG00000284953 GRCh38: Ensembl release 89: ENSG00000151062, ENSG00000284953 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041460 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: Calcium channel, voltage-dependent, alpha 2/delta subunit 4".

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.
  • 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.

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

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