AlphaFold predicted structure
CACNA1D · Q01668
Mean pLDDT
64.3/ 100
Low
2,161 residues
Confidence breakdown
- Very high(≥ 90)12%
- Confident(70–90)44%
- Low(50–70)11%
- Very low(< 50)33%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CACNA1D
Chr 3p21.1calcium voltage-gated channel subunit alpha1 D
- Aliases:
- Cav1.3, CACH3, CACN4
- MANE:
- ENST00000350061.11
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital hyperinsulinism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalCardiac arrhythmias - additional genes
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
aldosterone-producing adenoma with seizures and neurological abnormalities
0.77hypertensive disorder
0.74sinoatrial node dysfunction and deafness
0.69cardiovascular disorder
0.69atrial fibrillation
0.67diabetes mellitus
0.66heart failure
0.65epilepsy
0.61Hypertension
0.61coronary artery disorder
0.61
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 alpha-1D
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. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines
Diseases associated with CACNA1D
Curated MONDO disease pages that list CACNA1D among their top associated genes.