CACNA2D1

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)
End	82,443,777 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	16,579,509 bp
RNA expression pattern
	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
	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
	781
	12293
	ENSG00000153956
	ENSMUSG00000040118
	P54289
	O08532
	NM_000722; NM_001302890; NM_001366867
	NM_001110843; NM_001110844; NM_001110845; NM_001110846; NM_009784
	NP_000713; NP_001289819; NP_001353796
	NP_001104313; NP_001104314; NP_001104315; NP_001104316; NP_033914
	Wikidata
View/Edit Human	View/Edit Mouse

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 depolarization 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]

In mammals, alpha-2/delta proteins exist in four subtypes coded by four separate but closely related genes, CACNA2D1, CACNA2D2, CACNA2D3 and CACNA2D4.

Recently, alpha-2/delta1 proteins, in addition to calcium channels, have been found to interact directly with N-methyl-D-aspartate type glutamate receptors (NMDAR), AMPA type glutamate receptors (AMPAR) and the extracellular adhesion protein, thrombospondin.^[7]

^ ^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.
^ 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.
^ ^a ^b "Entrez Gene: CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1".
^ Varadi, Gyula (2024). "Mechanism of Analgesia by Gabapentinoid Drugs: Involvement of Modulation of Synaptogenesis and Trafficking of Glutamate-Gated Ion Channels". Journal of Pharmacology and Experimental Therapeutics. 388 (1): 121–133. doi:10.1124/jpet.123.001669. ISSN 0022-3565.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000153956 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000040118 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8188232-5] 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.

[entrez-6] "Entrez Gene: CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1".

[7] Varadi, Gyula (2024). "Mechanism of Analgesia by Gabapentinoid Drugs: Involvement of Modulation of Synaptogenesis and Trafficking of Glutamate-Gated Ion Channels". Journal of Pharmacology and Experimental Therapeutics. 388 (1): 121–133. doi:10.1124/jpet.123.001669. ISSN 0022-3565.

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