CACNA2D3

Calcium channel, voltage-dependent, alpha 2/delta subunit 3 is a protein that in humans is encoded by the CACNA2D3 gene on chromosome 3 (locus 3p21.1). [5]

CACNA2D3
Identifiers
AliasesCACNA2D3, HSA272268, calcium voltage-gated channel auxiliary subunit alpha2delta 3
External IDsOMIM: 606399 MGI: 1338890 HomoloGene: 74929 GeneCards: CACNA2D3
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3p21.1-p14.3Start54,122,547 bp[1]
End55,074,557 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

55799

12294

Ensembl

ENSG00000157445

ENSMUSG00000021991

UniProt

Q8IZS8

Q9Z1L5

RefSeq (mRNA)

NM_018398

NM_009785

RefSeq (protein)

NP_060868

NP_033915

Location (UCSC)Chr 3: 54.12 – 55.07 MbChr 14: 28.9 – 29.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.

Clinical significance

Number of studies reported an association between methylation of the CACNA2D3 gene and cancer.

Breast cancer

Methylation-dependent transcriptional silencing of CACNA2D3 gene may contribute to the metastatic phenotype of breast cancer. Analysis of methylation in the CACNA2D3 CpG island may have potential as a biomarker for risk of development of metastatic disease.[6]

Gastric cancer

The loss of CACNA2D3 gene expression through aberrant promoter hypermethylation may contribute to gastric carcinogenesis, and CACNA2D3 gene methylation is a useful prognostic marker for patients with advanced gastric cancer.[7] Physical exercise was correlated with a lower methylation frequency of CACNA2D3.[8]

References

  1. GRCh38: Ensembl release 89: ENSG00000157445 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000021991 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Calcium channel, voltage-dependent, alpha 2/delta subunit 3".
  6. Palmieri C, Rudraraju B, Monteverde M, Lattanzio L, Gojis O, Brizio R, Garrone O, Merlano M, Syed N, Lo Nigro C, Crook T (2012). "Methylation of the calcium channel regulatory subunit α2δ-3 (CACNA2D3) predicts site-specific relapse in oestrogen receptor-positive primary breast carcinomas". Br. J. Cancer. 107 (2): 375–81. doi:10.1038/bjc.2012.231. PMC 3394973. PMID 22644305.
  7. Wanajo A, Sasaki A, Nagasaki H, Shimada S, Otsubo T, Owaki S, Shimizu Y, Eishi Y, Kojima K, Nakajima Y, Kawano T, Yuasa Y, Akiyama Y (2008). "Methylation of the calcium channel-related gene, CACNA2D3, is frequent and a poor prognostic factor in gastric cancer". Gastroenterology. 135 (2): 580–90. doi:10.1053/j.gastro.2008.05.041. PMID 18588891.
  8. Yuasa Y, Nagasaki H, Akiyama Y, Hashimoto Y, Takizawa T, Kojima K, Kawano T, Sugihara K, Imai K, Nakachi K (2009). "DNA methylation status is inversely correlated with green tea intake and physical activity in gastric cancer patients". Int. J. Cancer. 124 (11): 2677–82. doi:10.1002/ijc.24231. PMID 19170207. S2CID 46627170.

Further reading

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


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