CACNA2D4
Chr 12ARcalcium voltage-gated channel auxiliary subunit alpha2delta 4
Also known as: RCD4
The alpha-2/delta-4 subunit regulates calcium current density and activation/inactivization kinetics of voltage-dependent calcium channels, which mediate calcium influx upon membrane depolarization. Biallelic mutations cause retinal cone dystrophy 4, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants, indicating intolerance to haploinsufficiency in the general population.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
600 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 9 | 0 | 10 |
Likely Pathogenic | 1 | 0 | 2 | 0 | 3 |
VUS | 20 | 301 | 46 | 3 | 370 |
Likely Benign | 0 | 5 | 96 | 101 | 202 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 5 | |||
| Total | 22 | 306 | 153 | 104 | 590 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CACNA2D4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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