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

Gene location (Human)

Chr.	Chromosome 7 (human)^[1]

Band	7q21.11	Start	81,946,444 bp^[1]
Band	7q21.11	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]
Band	5 A2- A3\|5 6.56 cM	End	16,579,509 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

biceps brachii

body of tongue

endothelial cell

postcentral gyrus

Brodmann area 23

entorhinal cortex

right ventricle

middle temporal gyrus

superior frontal gyrus

gastrocnemius muscle

Top expressed in

triceps brachii muscle

temporal muscle

digastric muscle

ankle

sternocleidomastoid muscle

ventromedial nucleus

vastus lateralis muscle

dorsomedial hypothalamic nucleus

body of femur

mammillary body

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

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 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]

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.
^ 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".
^ 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.

External links

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.

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 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 K_vα7-12 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 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺: Proton channel	HVCN1
M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
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 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm: Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin