CACNA1B
Chr 9ARcalcium voltage-gated channel subunit alpha1 B
Also known as: BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH
The CACNA1B protein forms the alpha-1B subunit of N-type voltage-gated calcium channels, which mediate calcium entry into excitable cells and control neurotransmitter release at synapses, pain signaling, and neuronal migration. Autosomal recessive mutations cause a neurodevelopmental disorder characterized by seizures and nonepileptic hyperkinetic movements. The protein is highly intolerant to loss-of-function mutations, suggesting pathogenicity occurs through severe disruption of calcium channel function.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
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
CACNA1B · 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