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Gene

CACNA1A

calcium voltage-gated channel subunit alpha1 A

Summary

Cytogenetic location
19p13.13
Coordinates
Chromosome 19: 13,206,442–13,506,479 (GRCh38)
Exons
47 exons across 300 kb
Protein
2,506 amino acids
Inheritance
Autosomal dominant
Also known as
Cav2.1, EA2, APCA, HPCA, FHM
Previous symbols
CACNL1A4, SCA6, MHP1, MHP
MANE Select transcript
ENST00000360228.11NM_001127222.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)

    • Autosomal Dominant Cerebellar AtaxiaAutosomal dominant

      A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.

  • Familial Hemiplegic Migraine

    • Migraine, Familial Hemiplegic, 1Autosomal dominant
      • 3 GenCC submitters rate it definitive or strong
    • Autosomal dominant

      A migraine disorder characterized by individual and family history of aura that includes motor weakness.

      • 3 GenCC submitters rate it definitive or strong
    • Familial Or Sporadic Hemiplegic MigraineAutosomal dominant

      Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).

      • 3 GenCC submitters rate it definitive or strong

  • Hereditary Episodic Ataxias

    • Hereditary Episodic AtaxiaAutosomal dominant

      A group of dominantly inherited ataxias with attacks of imbalance, including EA1 (KCNA1), EA2 (CACNA1A) and EA6 (SLC1A3).

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Episodic ataxia type 2 often responds to acetazolamide or 4-aminopyridine, and avoiding known triggers can reduce attacks.

Broader groupings

  • 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.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How CACNA1A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where CACNA1A sits. CACNA1A and 21 genes near it on chromosome 19, from 12,856,461 to 13,856,460.Chromosome 1919p13.13p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4313 Mb13.2 Mb13.4 Mb13.6 Mb13.8 MbHOOK2: 12,762,640–12,872,740, reverse strandMAST1: 12,833,860–12,874,952, forward strandMAST1DNASE2: 12,875,209–12,881,595, reverse strandKLF1: 12,884,405–12,887,201, reverse strandKLF1GCDH: 12,891,128–12,915,261, forward strandSYCE2: 12,898,786–12,919,306, reverse strandFARSA: 12,921,138–12,934,037, reverse strandCALR: 12,938,578–12,944,525, forward strandCALRRAD23A: 12,945,716–12,953,646, forward strandRAD23AGADD45GIP1: 12,950,701–12,957,333, reverse strandGADD45GIP1DAND5: 12,965,159–12,974,760, forward strandDAND5NFIX: 12,995,401–13,098,796, forward strandNFIXLYL1: 13,099,028–13,103,188, reverse strandLYL1TRMT1: 13,104,899–13,117,567, reverse strandTRMT1NACC1: 13,116,468–13,141,147, forward strandNACC1STX10: 13,144,058–13,150,383, reverse strandSTX10IER2: 13,150,403–13,156,981, forward strandIER2CACNA1A: 13,206,442–13,506,479, reverse strandCACNA1AYJU2B: 13,731,746–13,763,298, forward strandYJU2BMRI1: 13,764,498–13,774,282, forward strandMRI1C19orf53: 13,774,439–13,778,773, forward strandC19orf53ZSWIM4: 13,795,395–13,832,254, forward strandZSWIM4Diagram of CACNA1A: 47 exons on the reverse strand of chromosome 19Exon 47: 1 known disease-causing siteExon 46: 4 known disease-causing sitesExon 45: 8 known disease-causing sitesExon 43: 2 known disease-causing sitesExon 42: 3 known disease-causing sitesExon 41: 2 known disease-causing sitesExon 39: 1 known disease-causing siteExon 38: 1 known disease-causing siteExon 37: 1 known disease-causing siteExon 36: 10 known disease-causing sitesExon 35: 7 known disease-causing sitesExon 34: 3 known disease-causing sitesExon 33: 9 known disease-causing sitesExon 32: 17 known disease-causing sitesExon 31: 4 known disease-causing sitesExon 30: 2 known disease-causing sitesExon 29: 2 known disease-causing sitesExon 28: 10 known disease-causing sitesExon 27: 7 known disease-causing sitesExon 26: 11 known disease-causing sitesExon 25: 20 known disease-causing sitesExon 24: 3 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 21: 7 known disease-causing sitesExon 20: 11 known disease-causing sitesExon 19: 38 known disease-causing sitesExon 18: 1 known disease-causing siteExon 17: 6 known disease-causing sitesExon 16: 14 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 14: 9 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 12: 7 known disease-causing sitesExon 11: 15 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 18 known disease-causing sitesExon 5: 11 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 11 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 11 known disease-causing sitesExon 47: 13,206,442–13,208,053, 1,612 basesExon 46: 13,208,756–13,209,009, 254 basesExon 45: 13,209,312–13,209,498, 187 basesExon 44: 13,210,617–13,210,652, 36 basesExon 43: 13,212,103–13,212,216, 114 basesExon 42: 13,212,384–13,212,522, 139 basesExon 41: 13,212,631–13,212,740, 110 basesExon 40: 13,214,233–13,214,333, 101 basesExon 39: 13,214,501–13,214,608, 108 basesExon 38: 13,224,667–13,224,772, 106 basesExon 37: 13,227,431–13,227,527, 97 basesExon 36: 13,230,082–13,230,209, 128 basesExon 35: 13,231,710–13,231,860, 151 basesExon 34: 13,234,921–13,235,036, 116 basesExon 33: 13,235,209–13,235,274, 66 basesExon 32: 13,235,614–13,235,730, 117 basesExon 31: 13,245,182–13,245,265, 84 basesExon 30: 13,252,991–13,253,101, 111 basesExon 29: 13,255,095–13,255,259, 165 basesExon 28: 13,257,350–13,257,551, 202 basesExon 27: 13,259,564–13,259,701, 138 basesExon 26: 13,261,450–13,261,610, 161 basesExon 25: 13,262,734–13,262,833, 100 basesExon 24: 13,275,850–13,275,956, 107 basesExon 23: 13,277,069–13,277,128, 60 basesExon 22: 13,283,267–13,283,396, 130 basesExon 21: 13,285,068–13,285,206, 139 basesExon 20: 13,286,503–13,286,966, 464 basesExon 19: 13,298,544–13,299,353, 810 basesExon 18: 13,300,550–13,300,656, 107 basesExon 17: 13,303,546–13,303,613, 68 basesExon 16: 13,303,767–13,303,884, 118 basesExon 15: 13,307,782–13,307,854, 73 basesExon 14: 13,308,120–13,308,251, 132 basesExon 13: 13,308,416–13,308,528, 113 basesExon 12: 13,312,669–13,312,781, 113 basesExon 11: 13,317,112–13,317,321, 210 basesExon 10: 13,330,244–13,330,333, 90 basesExon 9: 13,332,869–13,332,925, 57 basesExon 8: 13,334,378–13,334,493, 116 basesExon 7: 13,335,806–13,335,909, 104 basesExon 6: 13,359,606–13,359,799, 194 basesExon 5: 13,365,317–13,365,469, 153 basesExon 4: 13,371,688–13,371,779, 92 basesExon 3: 13,452,876–13,453,015, 140 basesExon 2: 13,455,107–13,455,212, 106 basesExon 1: 13,505,932–13,506,479, 548 bases474030201015′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 8.6 kb of the gene's 300 kb; 7,521 of those bases code for the protein.

How a genome test reads CACNA1A

368

positions in CACNA1A 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 300 kb of CACNA1A, introns included, not only the 8.6 kb of exons.

Genes linked to the same conditions

Traits linked to CACNA1A

The Human Phenotype Ontology lists these as features of the rare conditions CACNA1A can cause. Each trait's page lists the other genes linked to it.

Abnormality of the nervous system

Show 110 more traits

External links

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.). CACNA1A gene: calcium voltage-gated channel subunit alpha1 A. Retrieved 17 October 2026, from https://dantelabs.com/genes/cacna1a

Vancouver

Dante Labs. CACNA1A gene: calcium voltage-gated channel subunit alpha1 A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cacna1a

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