CACNA2D1
Chr 7ARcalcium voltage-gated channel auxiliary subunit alpha2delta 1
Also known as: CACNA2, CACNL2A, CCHL2A, DEE110, LINC01112, lncRNA-N3
The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics, playing an important role in excitation-contraction coupling. Mutations cause autosomal recessive developmental and epileptic encephalopathy 110. This gene is highly constrained against loss-of-function variants (pLI >0.99), indicating that functional copies are essential for normal development.
Disputed — evidence questions this relationship
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CACNA2D1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools