Protein-coding gene in the species Homo sapiens
CACNA2D1 |
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Identifiers |
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Aliases | CACNA2D1, CACNA2, CACNL2A, CCHL2A, LINC01112, lncRNA-N3, calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
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External IDs | OMIM: 114204; MGI: 88295; HomoloGene: 579; GeneCards: CACNA2D1; OMA:CACNA2D1 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 7 (human)[1] |
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| Band | 7q21.11 | Start | 81,946,444 bp[1] |
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End | 82,443,777 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 5 (mouse)[2] |
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| Band | 5 A2- A3|5 6.56 cM | Start | 16,139,689 bp[2] |
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End | 16,579,509 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - biceps brachii
- Skeletal muscle tissue of biceps brachii
- Skeletal muscle tissue of rectus abdominis
- body of tongue
- endothelial cell
- postcentral gyrus
- Brodmann area 23
- entorhinal cortex
- right ventricle
- middle temporal gyrus
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| Top expressed in | - triceps brachii muscle
- temporal muscle
- digastric muscle
- ankle
- sternocleidomastoid muscle
- ventromedial nucleus
- muscle of thigh
- vastus lateralis muscle
- dorsomedial hypothalamic nucleus
- body of femur
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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 | - voltage-gated calcium channel activity
- metal ion binding
- voltage-gated ion channel activity
- calcium channel activity
- voltage-gated calcium channel activity involved in cardiac muscle cell action potential
- voltage-gated calcium channel activity involved in bundle of His cell action potential
| Cellular component | - voltage-gated calcium channel complex
- L-type voltage-gated calcium channel complex
- integral component of membrane
- T-tubule
- plasma membrane
- extracellular exosome
- membrane
- sarcoplasmic reticulum
| Biological process | - regulation of ion transmembrane transport
- regulation of calcium ion transport
- cardiac conduction
- ion transport
- calcium ion transmembrane transport
- calcium ion transport
- transport
- cardiac muscle cell action potential involved in contraction
- calcium ion transport into cytosol
- positive regulation of high voltage-gated calcium channel activity
- regulation of heart rate by cardiac conduction
- calcium ion transmembrane transport via high voltage-gated calcium channel
- regulation of ventricular cardiac muscle cell membrane repolarization
- regulation of membrane repolarization during action potential
- membrane depolarization during bundle of His cell action potential
- calcium ion import across plasma membrane
- regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
- cellular response to amyloid-beta
| 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_000722 NM_001302890 NM_001366867 |
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NM_001110843 NM_001110844 NM_001110845 NM_001110846 NM_009784 |
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RefSeq (protein) | |
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NP_000713 NP_001289819 NP_001353796 |
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NP_001104313 NP_001104314 NP_001104315 NP_001104316 NP_033914 |
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Location (UCSC) | Chr 7: 81.95 – 82.44 Mb | Chr 5: 16.14 – 16.58 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 alpha-2/delta-1 is a protein that in humans is encoded by the CACNA2D1 gene.[5][6]
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.[6]
Gabapentinoids
Alpha-2/delta proteins are believed to be the molecular target of the gabapentinoids gabapentin and pregabalin, which are used to treat epilepsy and neuropathic pain.[7][8][9]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000153956 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040118 – 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.
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- ^ a b "Entrez Gene: CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1".
- ^ 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.
- ^ Patel, Ryan; Dickenson, Anthony H. (2016-04-01). "Mechanisms of the gabapentinoids andα2δ-1 calcium channel subunit in neuropathic pain". Pharmacology Research & Perspectives. 4 (2): e00205. doi:10.1002/prp2.205. ISSN 2052-1707. PMC 4804325. PMID 27069626.
- ^ Patel, Ryan; Bauer, Claudia S.; Nieto-Rostro, Manuela; Margas, Wojciech; Ferron, Laurent; Chaggar, Kanchan; Crews, Kasumi; Ramirez, Juan D.; Bennett, David L. H. (2013-10-16). "α2δ-1 Gene Deletion Affects Somatosensory Neuron Function and Delays Mechanical Hypersensitivity in Response to Peripheral Nerve Damage". Journal of Neuroscience. 33 (42): 16412–16426. doi:10.1523/jneurosci.1026-13.2013. PMC 3797367. PMID 24133248.
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. S2CID 39341712.
- 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. Bibcode:1988Sci...241.1661E. 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. S2CID 33257989.
- Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 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. doi:10.1152/jn.2001.85.2.816. PMID 11160515. S2CID 147295966.
- 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2003Natur.424..157H. 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
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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