CACNA2D2 Chromosome 3
Calcium voltage-gated channel auxiliary subunit alpha2delta 2
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What This Gene Does
Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
Calcium voltage-gated channel auxiliary alpha2delta subunits
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000007402
Associated Conditions (6)
Developmental and epileptic encephalopathy
Cerebellar atrophy with seizures and variable developmental delay
CACNA2D2-related disorder
Inborn genetic diseases
Early-infantile DEE
Epileptic encephalopathy
Key Variants
RS1317078806
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, Cerebellar atrophy with seizures and variable developmental delay, Developmental and epileptic encephalopathy
Health Risk
RS146587089
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, CACNA2D2-related disorder, Inborn genetic diseases
Health Risk
RS147278705
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, Inborn genetic diseases, Cerebellar atrophy with seizures and variable developmental delay
Health Risk
RS150284749
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, Inborn genetic diseases, Early-infantile DEE
Health Risk
RS186631992
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS191208192
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, Inborn genetic diseases, Cerebellar atrophy with seizures and variable developmental delay
Health Risk
RS199903642
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, Inborn genetic diseases, Developmental and epileptic encephalopathy
Health Risk
RS199936910
Conflicting classifications of pathogenicity
Cerebellar atrophy with seizures and variable developmental delay, Early-infantile DEE, Cerebellar atrophy with seizures and variable developmental delay
Health Risk
RS200831326
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS377584163
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS536869186
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS569543350
Conflicting classifications of pathogenicity
Cerebellar atrophy with seizures and variable developmental delay, CACNA2D2-related disorder, Early-infantile DEE
Health Risk
All Variants (82)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1704971986 | Health Risk | Pathogenic | Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay |
| RS2106640003 | Health Risk | Pathogenic | Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay |
| RS2106664189 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2107090466 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2109395463 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2109400528 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2109400541 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2109411685 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2470971971 | Health Risk | Pathogenic | — |
| RS2470974723 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2470976611 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2470976938 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2470981373 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2470981449 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2470981548 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2470981573 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2471000564 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2471017162 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2471027512 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2471027650 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2471028503 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2471029525 | Health Risk | Pathogenic | Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay |
| RS2471029911 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2471063394 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2471148332 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2471250712 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2471323496 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2471323989 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS587776948 | Health Risk | Pathogenic | Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay |
| RS587777165 | Health Risk | Pathogenic | Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay |
| RS1451909068 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar atrophy with seizures and variable developmental delay, Early-infantile DEE, Cerebellar atrophy with seizures and variable developmental delay |
| RS1559887808 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar atrophy with seizures and variable developmental delay, Early-infantile DEE, Cerebellar atrophy with seizures and variable developmental delay |