Protein-coding gene in the species Homo sapiens
| CACNA2D2 |
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| Identifiers |
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| Aliases | CACNA2D2, CACNA2D, calcium voltage-gated channel auxiliary subunit alpha2delta 2, CASVDD |
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| External IDs | OMIM: 607082 MGI: 1929813 HomoloGene: 4400 GeneCards: CACNA2D2 |
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| Gene location (Human) |
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 | | Chr. | Chromosome 3 (human)[1] |
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| | Band | 3p21.31 | Start | 50,362,613 bp[1] |
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| End | 50,504,244 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 9 (mouse)[2] |
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| | Band | 9 F1|9 58.02 cM | Start | 107,276,811 bp[2] |
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| End | 107,406,542 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| 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
- hypothalamus
- external globus pallidus
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| | Top expressed in | - habenula
- trigeminal ganglion
- substantia nigra
- lateral hypothalamus
- motor neuron
- mammillary body
- supraoptic nucleus
- atrium
- cerebellar vermis
- globus pallidus
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | |
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NM_001005505
NM_001174051
NM_001291101
NM_006030 |
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NM_001174047
NM_001174048
NM_001174049
NM_001174050
NM_020263 |
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| RefSeq (protein) | |
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NP_001005505
NP_001167522
NP_001278030
NP_006021 |
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NP_001167518
NP_001167519
NP_001167520
NP_001167521
NP_064659 |
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| Location (UCSC) | Chr 3: 50.36 – 50.5 Mb | Chr 9: 107.28 – 107.41 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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
References
- ^ 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
- 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
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
