Contents

CACNA2D1

Protein-coding gene in the species Homo sapiens

CACNA2D1
Identifiers
Aliases	CACNA2D1, CACNA2, CACNL2A, CCHL2A, LINC01112, lncRNA-N3, calcium voltage-gated channel auxiliary subunit alpha2delta 1
External IDs	OMIM: 114204; MGI: 88295; HomoloGene: 579; GeneCards: CACNA2D1; OMA:CACNA2D1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q21.11 Start 81,946,444 bp[1] End 82,443,777 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 A2- A3|5 6.56 cM Start 16,139,689 bp[2] End 16,579,509 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 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 More reference expression data BioGPS More reference expression data
Gene ontology 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
Orthologs Species Human Mouse Entrez 781 12293 Ensembl ENSG00000153956 ENSMUSG00000040118 UniProt P54289 O08532 RefSeq (mRNA) NM_000722 NM_001302890 NM_001366867 NM_001110843 NM_001110844 NM_001110845 NM_001110846 NM_009784 RefSeq (protein) NP_000713 NP_001289819 NP_001353796 NP_001104313 NP_001104314 NP_001104315 NP_001104316 NP_033914 Location (UCSC) Chr 7: 81.95 – 82.44 Mb Chr 5: 16.14 – 16.58 Mb PubMed search [3] [4]
Wikidata
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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[edit]

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[edit]

• Voltage-dependent calcium channel

References[edit]

Further reading[edit]

External links[edit]

• CACNA2D1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human CACNA2D1 genome location and CACNA2D1 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.

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