Voltage-dependent calcium channel subunit alpha-2/delta-2

UniProt Q9NY47 Organism Homo sapiens Gene CACNA2D2, KIAA0558

Also known as: CACNA2D2, KIAA0558

Function

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G). Overexpression induces apoptosis.

Classification

Family (Pfam): PF08473 VGCC_alpha2, PF00092 VWA, PF08399 VWA_N
InterPro: Ca_channel_alpha-2/delta, VDCC_a2/dsu, VWA_N, VWF_A, vWFA_dom_sf
Functional cluster: Mixed Regulatory & Membrane Proteins

Gene Ontology · 7

Disease associations

cerebellar atrophy with seizures and variable developmental delay MONDO:0032788

Drugs targeting this protein · 10

PREGABALIN modulator
BEPRIDIL HYDROCHLORIDE blocker
GABAPENTIN ENACARBIL modulator
IMAGABALIN modulator
MIROGABALIN BESYLATE modulator
SULOCTIDIL blocker
PHLOROGLUCINOL blocker
TERODILINE HYDROCHLORIDE blocker
ATAGABALIN modulator
GABAPENTIN modulator

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Cadherin EGF LAG seven-pass G-type receptor 3 3 shared papers
Voltage-dependent calcium channel subunit alpha-2/delta-2 2 shared papers
Voltage-dependent calcium channel subunit alpha-2/delta-3 2 shared papers
SKI family transcriptional corepressor 2 1 shared papers
Voltage-dependent calcium channel subunit alpha-2/delta-3 1 shared papers
Sialidase-1 1 shared papers
NAD(P)H-hydrate epimerase 1 shared papers
Calmodulin-binding transcription activator 1 1 shared papers
ATP-dependent chromatin remodeler CHD2 1 shared papers
Probable arginine--tRNA ligase, mitochondrial 1 shared papers
Acid ceramidase 1 shared papers
Voltage-dependent P/Q-type calcium channel subunit alpha-1A 1 shared papers

Literature · 16 cited papers

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. Am. J. Hum. Genet. · 2021
Epileptic encephalopathy and cerebellar atrophy resulting from compound heterozygous CACNA2D2 variants. Case Rep. Genet. · 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genet. Med. · 2019
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. PLoS ONE · 2013
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. J. Med. Genet. · 2013
Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. Nat. Biotechnol. · 2009
The DNA sequence, annotation and analysis of human chromosome 3. Nature · 2006
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
Modulation of gating currents of the Ca(v)3.1 calcium channel by alpha 2 delta 2 and gamma 5 subunits. Arch. Biochem. Biophys. · 2004
Calcium channel alpha2delta subunits: differential expression, function, and drug binding. J. Bioenerg. Biomembr. · 2003
CACNA2D2-mediated apoptosis in NSCLC cells is associated with alterations of the intracellular calcium signaling and disruption of mitochondria membrane integrity. Oncogene · 2003
Tissue-specific expression and gabapentin-binding properties of calcium channel alpha2delta subunit subtypes. J. Membr. Biol. · 2001
… and 4 more in the literature graph

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