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Gene

CACNA1E

calcium voltage-gated channel subunit alpha1 E

Summary

Cytogenetic location
1q25.3
Coordinates
Chromosome 1: 181,483,517–181,808,084 (GRCh38)
Exons
48 exons across 324.6 kb
Protein
2,313 amino acids
Also known as
Cav2.3, BII, CACH6
Previous symbols
CACNL1A6
MANE Select transcript
ENST00000367573.7NM_001205293.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • ClinGen rates the link definitive
        • 5 GenCC submitters rate it definitive or strong

    How CACNA1E is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 1, with a bracket where CACNA1E sits. CACNA1E and 1 gene near it on chromosome 1, from 181,145,801 to 182,145,800.Chromosome 11q25.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44181.2 Mb181.4 Mb181.6 Mb181.8 Mb182 MbCACNA1E: 181,483,517–181,808,084, forward strandCACNA1EZNF648: 182,054,570–182,061,712, reverse strandZNF648Diagram of CACNA1E: 48 exons on the forward strand of chromosome 1Exon 3: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 8: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 17: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 25: 1 known disease-causing siteExon 28: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 30: 1 known disease-causing siteExon 34: 1 known disease-causing siteExon 1: 181,483,517–181,484,010, 494 basesExon 2: 181,510,477–181,510,582, 106 basesExon 3: 181,511,371–181,511,510, 140 basesExon 4: 181,577,766–181,577,869, 104 basesExon 5: 181,579,072–181,579,224, 153 basesExon 6: 181,580,595–181,580,776, 182 basesExon 7: 181,651,338–181,651,441, 104 basesExon 8: 181,710,954–181,711,069, 116 basesExon 9: 181,715,338–181,715,391, 54 basesExon 10: 181,716,040–181,716,129, 90 basesExon 11: 181,717,093–181,717,302, 210 basesExon 12: 181,718,055–181,718,167, 113 basesExon 13: 181,719,751–181,719,863, 113 basesExon 14: 181,720,206–181,720,337, 132 basesExon 15: 181,720,783–181,720,855, 73 basesExon 16: 181,721,758–181,721,875, 118 basesExon 17: 181,724,470–181,724,537, 68 basesExon 18: 181,726,065–181,726,162, 98 basesExon 19: 181,731,175–181,731,231, 57 basesExon 20: 181,732,384–181,733,034, 651 basesExon 21: 181,733,437–181,733,750, 314 basesExon 22: 181,736,275–181,736,434, 160 basesExon 23: 181,737,525–181,737,654, 130 basesExon 24: 181,738,367–181,738,426, 60 basesExon 25: 181,739,147–181,739,253, 107 basesExon 26: 181,750,476–181,750,487, 12 basesExon 27: 181,752,143–181,752,239, 97 basesExon 28: 181,755,237–181,755,397, 161 basesExon 29: 181,755,956–181,756,093, 138 basesExon 30: 181,756,925–181,757,126, 202 basesExon 31: 181,757,947–181,758,111, 165 basesExon 32: 181,758,758–181,758,868, 111 basesExon 33: 181,762,574–181,762,657, 84 basesExon 34: 181,763,406–181,763,531, 126 basesExon 35: 181,766,546–181,766,611, 66 basesExon 36: 181,771,293–181,771,384, 92 basesExon 37: 181,772,066–181,772,231, 166 basesExon 38: 181,776,101–181,776,228, 128 basesExon 39: 181,781,427–181,781,523, 97 basesExon 40: 181,783,679–181,783,784, 106 basesExon 41: 181,784,661–181,784,768, 108 basesExon 42: 181,785,318–181,785,418, 101 basesExon 43: 181,785,713–181,785,819, 107 basesExon 44: 181,790,445–181,790,556, 112 basesExon 45: 181,793,665–181,793,793, 129 basesExon 46: 181,794,864–181,795,044, 181 basesExon 47: 181,796,668–181,796,858, 191 basesExon 48: 181,798,292–181,808,084, 9,793 bases110203040485′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 16.4 kb of the gene's 324.6 kb; 6,942 of those bases code for the protein.

    How a genome test reads CACNA1E

    16

    positions in CACNA1E where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 324.6 kb of CACNA1E, introns included, not only the 16.4 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). CACNA1E gene: calcium voltage-gated channel subunit alpha1 E. Retrieved 16 October 2026, from https://dantelabs.com/genes/cacna1e

    Vancouver

    Dante Labs. CACNA1E gene: calcium voltage-gated channel subunit alpha1 E [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cacna1e

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