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CACNA2D3

From Wikipedia, the free encyclopedia
CACNA2D3
Identifiers
AliasesCACNA2D3, HSA272268, calcium voltage-gated channel auxiliary subunit alpha2delta 3
External IDsOMIM: 606399; MGI: 1338890; HomoloGene: 74929; GeneCards: CACNA2D3; OMA:CACNA2D3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_018398

NM_009785

RefSeq (protein)

NP_060868

NP_033915

Location (UCSC)Chr 3: 54.12 – 55.07 MbChr 14: 28.63 – 29.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Function

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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

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

Breast cancer

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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

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000157445Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021991Ensembl, 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.
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Further reading

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