CACNA2D1

Calcium channel, voltage-dependent, alpha 2/delta subunit 1
Identifiers
Symbols	CACNA2D1 ; CACNA2; CACNL2A; CCHL2A; LINC01112; lncRNA-N3
External IDs	OMIM: 114204 MGI: 88295 HomoloGene: 579 ChEMBL: 1919 GeneCards: CACNA2D1 Gene
Gene ontology Molecular function • voltage-gated calcium channel activity • calcium channel regulator activity • metal ion binding Cellular component • voltage-gated calcium channel complex • sarcoplasmic reticulum • T-tubule • extracellular exosome Biological process • calcium ion transport • regulation of ion transmembrane transport • regulation of calcium ion transport • calcium ion transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	781	12293
Ensembl	ENSG00000153956	ENSMUSG00000040118
UniProt	P54289	O08532
RefSeq (mRNA)	NM_000722	NM_001110843
RefSeq (protein)	NP_000713	NP_001104313
Location (UCSC)	Chr 7: 81.95 – 82.44 Mb	Chr 5: 15.93 – 16.37 Mb
PubMed search

Voltage-dependent calcium channel subunit alpha-2/delta-1 is a protein that in humans is encoded by the CACNA2D1 gene.^[1][2]

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. 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.^[2]

Gabapentinoids

alpha2/delta proteins are believed to be the molecular target of the gabapentinoids gabapentin and pregabalin, which are used to treat epilepsy and neuropathic pain.^[3]

See also

• Voltage-dependent calcium channel

References

1. Powers PA, Scherer SW, Tsui LC, Gregg RG, Hogan K (Jun 1994). "Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis". Genomics 19 (1): 192–3. doi:10.1006/geno.1994.1044. PMID 8188232.
2. "Entrez Gene: CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1".
3. Rogawski MA, Bazil CW (July 2008). "New molecular targets for antiepileptic drugs: alpha(2)delta, SV2A, and K(v)7/KCNQ/M potassium channels". Curr Neurol Neurosci Rep 8 (4): 345–52. doi:10.1007/s11910-008-0053-7. PMC 2587091. PMID 18590620.

Further reading

• Williams ME, Feldman DH, McCue AF; et al. (1992). "Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype.". Neuron 8 (1): 71–84. doi:10.1016/0896-6273(92)90109-Q. PMID 1309651.
• Ellis SB, Williams ME, Ways NR; et al. (1988). "Sequence and expression of mRNAs encoding the alpha 1 and alpha 2 subunits of a DHP-sensitive calcium channel.". Science 241 (4873): 1661–4. doi:10.1126/science.2458626. PMID 2458626.
• Iles DE, Lehmann-Horn F, Scherer SW; et al. (1994). "Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.". Hum. Mol. Genet. 3 (6): 969–75. doi:10.1093/hmg/3.6.969. PMID 7951247.
• Brust PF, Simerson S, McCue AF; et al. (1994). "Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly.". Neuropharmacology 32 (11): 1089–102. doi:10.1016/0028-3908(93)90004-M. PMID 8107964.
• "Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. 1999. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Schleithoff L, Mehrke G, Reutlinger B, Lehmann-Horn F (1999). "Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2).". Genomics 61 (2): 201–9. doi:10.1006/geno.1999.5941. PMID 10534405.
• Bell DC, Butcher AJ, Berrow NS; et al. (2001). "Biophysical properties, pharmacology, and modulation of human, neuronal L-type (alpha(1D), Ca(V)1.3) voltage-dependent calcium currents.". J. Neurophysiol. 85 (2): 816–27. PMID 11160515.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Hillier LW, Fulton RS, Fulton LA; et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
• Stotz SC, Barr W, McRory JE; et al. (2004). "Several structural domains contribute to the regulation of N-type calcium channel inactivation by the beta 3 subunit.". J. Biol. Chem. 279 (5): 3793–800. doi:10.1074/jbc.M308991200. PMID 14602720.
• Liu T, Qian WJ, Gritsenko MA; et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943. PMID 16335952.
• Antzelevitch C, Pollevick GD, Cordeiro JM; et al. (2007). "Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.". Circulation 115 (4): 442–9. doi:10.1161/CIRCULATIONAHA.106.668392. PMC 1952683. PMID 17224476.
• Chaudhuri D, Issa JB, Yue DT (2007). "Elementary mechanisms producing facilitation of Cav2.1 (P/Q-type) channels.". J. Gen. Physiol. 129 (5): 385–401. doi:10.1085/jgp.200709749. PMC 2154375. PMID 17438119.

External links

• CACNA2D1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

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