AlphaFold predicted structure
CACNA1E · Q15878
Mean pLDDT
59.9/ 100
Low
2,313 residues
Confidence breakdown
- Very high(≥ 90)6%
- Confident(70–90)42%
- Low(50–70)13%
- Very low(< 50)39%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CACNA1E
Chr 1q25.3calcium voltage-gated channel subunit alpha1 E
- Aliases:
- Cav2.3, BII, CACH6
- MANE:
- ENST00000367573.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Arthrogryposis
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 unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
Seizure
0.72genetic developmental and epileptic encephalopathy
0.71epilepsy
0.61neuropathic pain
0.60fibromyalgia
0.60restless legs syndrome
0.59postherpetic neuralgia
0.57anxiety disorder
0.57neuralgia
0.56Focal-onset seizure
0.52
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Voltage-dependent R-type calcium channel subunit alpha-1E
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943). They 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-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel. They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing
Diseases associated with CACNA1E
Curated MONDO disease pages that list CACNA1E among their top associated genes.