CACNB3

Chr 12q13.12

calcium voltage-gated channel auxiliary subunit beta 3

MANE:: ENST00000301050.7

OMIM: 601958 ↗NCBI: 784 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CACNB3 · P54284

v62025-08-01

Predicted Aligned Error matrix for CACNB3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.9/ 100

Confident

484 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)8%
Low(50–70)8%
Very low(< 50)32%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

epilepsy
0.62
neuropathic pain
0.60
fibromyalgia
0.60
Seizure
0.60
restless legs syndrome
0.59
postherpetic neuralgia
0.57
anxiety disorder
0.57
neuralgia
0.56
Focal-onset seizure
0.52
spinal cord injury
0.49

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

Protein function (UniProt)

Voltage-dependent L-type calcium channel subunit beta-3

Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8119293). Increases CACNA1B peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity). Increases CACNA1C peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity)