CACNA1B

Chr 9q34.3

calcium voltage-gated channel subunit alpha1 B

Aliases:: Cav2.2, CACNN
MANE:: ENST00000371372.6

OMIM: 601012 ↗NCBI: 774 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CACNA1B · Q00975

v62025-08-01

Predicted Aligned Error matrix for CACNA1B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.9/ 100

Low

2,339 residues

Confidence breakdown

Very high(≥ 90)7%
Confident(70–90)40%
Low(50–70)12%
Very low(< 50)41%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Seizure
0.72
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements
0.70
epilepsy
0.61
Bilateral tonic-clonic seizure
0.60
neuropathic pain
0.60
fibromyalgia
0.60
restless legs syndrome
0.59
postherpetic neuralgia
0.57
anxiety disorder
0.57
neuralgia
0.56

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Voltage-dependent N-type calcium channel subunit alpha-1B

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This alpha-1B subunit gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group. They are involved in pain signaling (PubMed:25296916). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons. Mediates Ca(2+) release probability at hippocampal neuronal soma and synaptic terminals (By similarity)