CACNA2D1

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Calcium channel, voltage-dependent, alpha 2/delta subunit 1
Identifiers
Symbols CACNA2D1; CACNA2; CACNL2A; CCHL2A; MHS3
External IDs OMIM: 114204 MGI: 88295 HomoloGene: 579
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 781 12293
Ensembl ENSG00000153956 ENSMUSG00000040118
Uniprot P54289 Q8C6Y3
Refseq NM_000722 (mRNA)
NP_000713 (protein)		 NM_009784 (mRNA)
NP_033914 (protein)
Location Chr 7: 81.42 - 81.91 Mb Chr 5: 15.45 - 15.88 Mb
Pubmed search [1] [2]

Calcium channel, voltage-dependent, alpha 2/delta subunit 1, also known as CACNA2D1, is a human gene.[1]

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.[1]

Contents

See also

References

  1. ^ a b "Entrez Gene: CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1".

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. 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. 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. 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. PMID 8107964. 
  • Powers PA, Scherer SW, Tsui LC, et al. (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. 
  • "Toward a complete human genome sequence." (1999). Genome Res. 8 (11): 1097–108. 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. 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. 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. 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. PMID 17438119. 

External links

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v • d • e
Membrane transport protein: ion channels
Ca2+: Calcium channel
L-type/Cavα (1.1, 1.2, 1.3, 1.4) • N-type/Cavα2.2 • P-type/Cavα(2.1) • Q-type/Cavα2.1 • R-type/Cavα2.3 • T-type/Cavα(3.2)
α2δ-subunits (1, 2) • β-subunits (β1, β2, β3, β4) • γ-subunits (γ1, γ2, γ3, γ4)
Cation channels of sperm • Two-pore channel (1, 2)
Ligand-gated
Na+: Sodium channel
Navα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8, 1.9, 7A) • Navβ (1, 2, 3, 4)
Other
K+: Potassium channel
Kvα (1-6) (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.10, 2.1, 2.2, 3.1, 3.2, 3.3, 3.4, 4.1, 4.2, 4.3, 5.1, 6.1, 6.2, 6.3, 6.4)
Kvα (7-12) (7.1, 7.2, 7.3, 7.4, 7.5, 8.1, 8.2, 9.1, 9.2, 9.3, 10.1, 10.2, 11.1/hERG, 11.2, 11.3, 12.1, 12.2, 12.3)
Kvβ (1, 2, 3) • KCNIP (1, 2, 3, 4) • minK/ISK • MiRP (1, 2, 3) • Shaker gene
Kir (1.1, 2.1, 2.2, 2.3, 2.4) • GIRK/Kir (3.1, 3.2, 3.3, 3.4) • Kir (4.1, 4.2, 5.1, 6.1, 6.2, 7.1)
K2P (1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 13, 15, 16, 17, 18)
M+: TRP cation channel
TRPA (1) • TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) • TRPM (1, 2, 3, 4, 5, 6, 7, 8) • TRPML (1, 2, 3) • TRPP (1, 2) • TRPV (1, 2, 3, 4, 5, 6)
Cl-: Chloride channel
CFTR • CLCA (1, 2, 3, 4) • CLCN (1, 2, 3, 4, 5, 6, 7, KA, KB) • CLIC (1, 2, 3, 4, 5, 6, L1) • CLNS (1A, 1B)
Cyclic nucleotide-gated
α1, α2, α3, α4, β1, β3, H1, H2, H3, H4
Porin
Other/general

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  • This page was last modified on 10 July 2008, at 05:54.

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