AlphaFold predicted structure
CACNA1C · Q13936
Mean pLDDT
61.9/ 100
Low
2,221 residues
Confidence breakdown
- Very high(≥ 90)11%
- Confident(70–90)39%
- Low(50–70)16%
- Very low(< 50)35%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CACNA1C
Chr 12p13.33calcium voltage-gated channel subunit alpha1 C
- Aliases:
- Cav1.2, CACH2, CACN2, TS, LQT8
- MANE:
- ENST00000399655.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital hyperinsulinism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLong QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPaediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
+2 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
Timothy syndrome
0.82long QT syndrome 8
0.72hypertensive disorder
0.72Brugada syndrome 3
0.72neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
0.70Brugada syndrome
0.67Seizure
0.67acquired long QT syndrome
0.65epilepsy
0.64diabetes mellitus
0.62
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-1C
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:12181424, PubMed:15454078, PubMed:15863612, PubMed:16299511, PubMed:17224476, PubMed:20953164, PubMed:23677916, PubMed:24728418, PubMed:26253506, PubMed:27218670, PubMed:29078335, PubMed:29742403, PubMed:30023270, PubMed:30172029, PubMed:34163037, PubMed:8099908). Mediates influx of calcium ions into the cytoplasm, and thereby triggers calcium release from the sarcoplasm (By similarity). Plays an important role in excitation-contraction coupling in the heart. Required for normal heart development and normal regulation of heart rhythm (PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506). Required for normal contraction of smooth muscle cells in blood vessels and in the intestine. Essential for normal blood pressure regulation via its role in the contraction of arterial smooth muscle cells (PubMed:28119464). Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group (Probable)
Diseases associated with CACNA1C
Curated MONDO disease pages that list CACNA1C among their top associated genes.