CACNB2

Chr 10p12

calcium voltage-gated channel auxiliary subunit beta 2

MANE:: ENST00000324631.13

OMIM: 600003 ↗NCBI: 783 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CACNB2 · Q08289

v62025-08-01

Predicted Aligned Error matrix for CACNB2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.4/ 100

Low

660 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)5%
Low(50–70)10%
Very low(< 50)48%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Brugada syndrome and cardiac sodium channel disease
Unknown
Monogenic hearing loss

Disease associations (Open Targets)

epilepsy
0.61
neuropathic pain
0.60
fibromyalgia
0.60
Seizure
0.60
restless legs syndrome
0.59
postherpetic neuralgia
0.57
cardiovascular disorder
0.57
anxiety disorder
0.57
neuralgia
0.56
Brugada syndrome
0.56

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-2

Beta subunit of voltage-dependent calcium channels which contributes to the function of the calcium channel by increasing peak calcium current (By similarity). Plays a role in shifting voltage dependencies of activation and inactivation of the channel (By similarity). May modulate G protein inhibition (By similarity). May contribute to beta-adrenergic augmentation of Ca(2+) influx in cardiomyocytes, thereby regulating increases in heart rate and contractile force (PubMed:36424916). Involved in membrane targeting of the alpha-1 subunit CACNA1C (PubMed:17525370)