CACNA1B

Chr 9AR

calcium voltage-gated channel subunit alpha1 B

Also known as: BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH

The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.241 OMIM phenotype
Clinical SummaryCACNA1B
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Gene-Disease Validity (ClinGen)
complex neurodevelopmental disorder with motor features · ARModerate

Moderate evidence — consider for supplementary testing

Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint?
0.24LOEUF
pLI 1.000
Z-score 7.85
OE 0.16 (0.110.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
4.52Z-score
OE missense 0.65 (0.610.69)
841 obs / 1299.1 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.16 (0.110.24)
00.351.4
Missense OE?0.65 (0.610.69)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 16 / 101.2Missense obs/exp: 841 / 1299.1Syn Z: -0.42
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongCACNA1B-related neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.5967th %ile
GOF
0.74top 25%
LOF
0.56top 25%

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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