CACNA2D2

CACNA2D2
Identifiers
Aliases	CACNA2D2, CACNA2D, calcium voltage-gated channel auxiliary subunit alpha2delta 2, CASVDD
External IDs	OMIM: 607082; MGI: 1929813; HomoloGene: 4400; GeneCards: CACNA2D2; OMA:CACNA2D2 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p21.31 Start 50,362,613 bp[1] End 50,504,244 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 F1|9 58.02 cM Start 107,276,811 bp[2] End 107,406,542 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lower lobe of lung cerebellar vermis superior vestibular nucleus ventral tegmental area upper lobe of lung upper lobe of left lung right lung vena cava right hemisphere of cerebellum gonad Top expressed in lateral septal nucleus habenula trigeminal ganglion substantia nigra lateral hypothalamus motor neuron mammillary body supraoptic nucleus lobe of cerebellum atrium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium channel activity metal ion binding voltage-gated ion channel activity voltage-gated calcium channel activity Cellular component voltage-gated calcium channel complex integral component of membrane membrane plasma membrane Biological process regulation of multicellular organism growth regulation of insulin secretion regulation of ion transmembrane transport positive regulation of organ growth ion transport neuromuscular junction development calcium ion transmembrane transport rhythmic synaptic transmission calcium ion transport cardiac conduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9254 56808 Ensembl ENSG00000007402 ENSMUSG00000010066 UniProt Q9NY47 Q6PHS9 RefSeq (mRNA) NM_001005505 NM_001174051 NM_001291101 NM_006030 NM_001174047 NM_001174048 NM_001174049 NM_001174050 NM_020263 RefSeq (protein) NP_001005505 NP_001167522 NP_001278030 NP_006021 NP_001167518 NP_001167519 NP_001167520 NP_001167521 NP_064659 Location (UCSC) Chr 3: 50.36 – 50.5 Mb Chr 9: 107.28 – 107.41 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Voltage-dependent calcium channel subunit alpha2delta-2 is a protein that in humans is encoded by the CACNA2D2 gene.[5]

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, encoding different isoforms, have been characterized.[5]

CACNA2D2 containing channels are blocked by amiodarone.[6]

See also

• Voltage-dependent calcium channel

References

1. GRCh38: Ensembl release 89: ENSG00000007402 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000010066 – 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: CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2".
6. "Amiodarone". Drugbank. Retrieved 2019-05-28.

Further reading

• Donato R, Page KM, Koch D, et al. (2006). "The ducky2J mutation in Cacna2d2 results in reduced spontaneous Purkinje cell activity and altered gene expression". J. Neurosci. 26 (48): 12576–86. doi:10.1523/JNEUROSCI.3080-06.2006. PMC 1797058. PMID 17135419.
• Carboni GL, Gao B, Nishizaki M, et al. (2003). "CACNA2D2-mediated apoptosis in NSCLC cells is associated with alterations of the intracellular calcium signaling and disruption of mitochondria membrane integrity". Oncogene. 22 (4): 615–26. doi:10.1038/sj.onc.1206134. PMC 3484891. PMID 12555074.
• Honorio S, Gordon K, MacCartney D, et al. (2002). "Identification of a single nucleotide polymorphism in the human alpha 2 delta 2 calcium channel subunit gene". Mol. Cell. Probes. 15 (6): 391–3. doi:10.1006/mcpr.2001.0382. PMID 11851383.
• Angeloni D, Duh FM, Wei MF, et al. (2001). "A G-to-A single nucleotide polymorphism in intron 2 of the human CACNA2D2 gene that maps at 3p21.3". Mol. Cell. Probes. 15 (2): 125–7. doi:10.1006/mcpr.2000.0341. hdl:11382/301708. PMID 11292331. S2CID 38006979.
• Lerman MI, Minna JD (2000). "The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. The International Lung Cancer Chromosome 3p21.3 Tumor Suppressor Gene Consortium". Cancer Res. 60 (21): 6116–33. PMID 11085536.
• Gao B, Sekido Y, Maximov A, et al. (2000). "Functional properties of a new voltage-dependent calcium channel alpha(2)delta auxiliary subunit gene (CACNA2D2)". J. Biol. Chem. 275 (16): 12237–42. doi:10.1074/jbc.275.16.12237. PMC 3484885. PMID 10766861.
• Hobom M, Dai S, Marais E, et al. (2000). "Neuronal distribution and functional characterization of the calcium channel alpha2delta-2 subunit". Eur. J. Neurosci. 12 (4): 1217–26. doi:10.1046/j.1460-9568.2000.01009.x. PMID 10762351. S2CID 82569498.
• Nagase T, Ishikawa K, Miyajima N, et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.

External links

• CACNA2D2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human CACNA2D2 genome location and CACNA2D2 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.