CACNA2D1

Chr 7q21.11

calcium voltage-gated channel auxiliary subunit alpha2delta 1

Aliases:: lncRNA-N3, alpha2delta-1
MANE:: ENST00000356860.8

OMIM: 114204 ↗NCBI: 781 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CACNA2D1 · P54289

v62025-08-01

Predicted Aligned Error matrix for CACNA2D1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.6/ 100

Confident

1,103 residues

Confidence breakdown

Very high(≥ 90)61%
Confident(70–90)27%
Low(50–70)8%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Brugada syndrome and cardiac sodium channel disease
Unknown
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Sudden death in young people
Unknown

Disease associations (Open Targets)

Seizure
0.69
epilepsy
0.61
neuropathic pain
0.60
fibromyalgia
0.60
restless legs syndrome
0.59
anxiety disorder
0.58
postherpetic neuralgia
0.57
neuralgia
0.56
Focal-onset seizure
0.52
developmental and epileptic encephalopathy 110
0.49

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-1

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel (PubMed:35293990). Plays an important role in excitation-contraction coupling (By similarity)