CACNA1E

Chr 1

calcium voltage-gated channel subunit alpha1 E

Also known as: BII, CACH6, CACNL1A6, Cav2.3, DEE69, EIEE69, gm139

NCBI Gene: 777ENSG00000198216UniProt: Q15878

Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels 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. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 69

Clinical highlights

Gene-disease validity (ClinGen)
genetic developmental and epileptic encephalopathy · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Gain of function is the established mechanism, so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
27
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.12
LOEUF· LoF intol.
GOF
Mechanism· annotated
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GeneReview available — CACNA1E
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.12LOEUF
pLI 1.000
Z-score 9.29
OE 0.07 (0.04–0.12)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
5.81Z-score
OE missense 0.56 (0.52–0.59)
750 obs / 1351.3 exp
Constrained

Extremely missense-constrained (top ~0.01%)

Observed / Expected Ratios?
LoF OE?0.07 (0.04–0.12)
0≤0.351.4
Missense OE?0.56 (0.52–0.59)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 8 / 115.9Missense obs/exp: 750 / 1351.3Syn Z: -0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CACNA1E · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients