CACNA2D4

Chr 12p13.33

calcium voltage-gated channel auxiliary subunit alpha2delta 4

Aliases:: alpha2delta-4
MANE:: ENST00000382722.10

OMIM: 608171 ↗NCBI: 93589 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CACNA2D4 · Q7Z3S7

v62025-08-01

Predicted Aligned Error matrix for CACNA2D4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.4/ 100

Confident

1,137 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)41%
Low(50–70)6%
Very low(< 50)11%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinal cone dystrophy 4
0.61
epilepsy
0.61
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
Retinal dystrophy
0.53

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

Protein function (UniProt)

Voltage-dependent calcium channel subunit alpha-2/delta-4

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel