CACNA1E Chromosome 1
Calcium voltage-gated channel subunit alpha1 E
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What This Gene Does
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]
Gene Info
Gene Group
"EF-hand domain containing|Calcium voltage-gated channel alpha1 subunits"
Locus Type
gene with protein product
Location
1q25.3
Ensembl
ENSG00000198216
Associated Conditions (7)
Developmental and epileptic encephalopathy
69
Inborn genetic diseases
CACNA1E-related disorder
See cases
Intellectual disability
Van der Woude syndrome 1
Key Variants
RS1007809575
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
Health Risk
RS1014152863
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
Health Risk
RS1037223207
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1049589906
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
Health Risk
RS1159957403
Conflicting classifications of pathogenicity
Health Risk
RS1212405193
Conflicting classifications of pathogenicity
Health Risk
RS1238103479
Conflicting classifications of pathogenicity
Health Risk
RS1238784071
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1246607749
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1249717519
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1304893896
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1305652887
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (119)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1658149520 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2102980705 | Health Risk | Likely pathogenic | — |
| RS2527316352 | Health Risk | Likely pathogenic | — |
| RS2528547442 | Health Risk | Likely pathogenic | — |
| RS2528786590 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy |
| RS2528985690 | Health Risk | Likely pathogenic | — |
| RS869312920 | Health Risk | Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 69 |
| RS12131800 | Health Risk | Pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 69 |
| RS1558308998 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy |
| RS2102499747 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2102682130 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy |
| RS2102689621 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2102689660 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2525532731 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy |
| RS1445829303 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy |
| RS1553286282 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy |
| RS2102063243 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy |
| RS778291283 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy |
| RS886039323 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 69, Inborn genetic diseases |