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]
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. PMC1797058. 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. PMC3484891. 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. PMC3484885. 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 linksedit
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.
cacna2d2, voltage, dependent, calcium, channel, subunit, alpha2delta, protein, that, humans, encoded, gene, identifiersaliases, cacna2d, calcium, voltage, gated, channel, auxiliary, subunit, alpha2delta, casvddexternal, idsomim, 607082, 1929813, homologene, 44. Voltage dependent calcium channel subunit alpha2delta 2 is a protein that in humans is encoded by the CACNA2D2 gene 5 CACNA2D2IdentifiersAliasesCACNA2D2 CACNA2D calcium voltage gated channel auxiliary subunit alpha2delta 2 CASVDDExternal IDsOMIM 607082 MGI 1929813 HomoloGene 4400 GeneCards CACNA2D2Gene location Human Chr Chromosome 3 human 1 Band3p21 31Start50 362 613 bp 1 End50 504 244 bp 1 Gene location Mouse Chr Chromosome 9 mouse 2 Band9 F1 9 58 02 cMStart107 276 811 bp 2 End107 406 542 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inlower lobe of lungcerebellar vermissuperior vestibular nucleusventral tegmental areaupper lobe of lungupper lobe of left lungright lungvena cavahypothalamusexternal globus pallidusTop expressed inhabenulatrigeminal ganglionsubstantia nigralateral hypothalamusmotor neuronmammillary bodysupraoptic nucleusatriumcerebellar vermisglobus pallidusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functioncalcium channel activity metal ion binding voltage gated ion channel activity voltage gated calcium channel activityCellular componentvoltage gated calcium channel complex integral component of membrane membrane plasma membraneBiological processregulation 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 conductionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez925456808EnsemblENSG00000007402ENSMUSG00000010066UniProtQ9NY47Q6PHS9RefSeq mRNA NM 001005505NM 001174051NM 001291101NM 006030NM 001174047NM 001174048NM 001174049NM 001174050NM 020263RefSeq protein NP 001005505NP 001167522NP 001278030NP 006021NP 001167518NP 001167519NP 001167520NP 001167521NP 064659Location UCSC Chr 3 50 36 50 5 MbChr 9 107 28 107 41 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse 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 Contents 1 See also 2 References 3 Further reading 4 External linksSee also editVoltage dependent calcium channelReferences edit a b c GRCh38 Ensembl release 89 ENSG00000007402 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000010066 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene CACNA2D2 calcium channel voltage dependent alpha 2 delta subunit 2 Amiodarone Drugbank Retrieved 2019 05 28 Further reading editDonato 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 editCACNA2D2 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 Retrieved from https en wikipedia org w index php title CACNA2D2 amp oldid 1142696156, wikipedia, wiki, book, books, library,
