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Gene

CACNA1G

calcium voltage-gated channel subunit alpha1 G

Summary

Cytogenetic location
17q21.33
Coordinates
Chromosome 17: 50,560,715–50,627,474 (GRCh38)
Exons
38 exons across 66.8 kb
Protein
2,377 amino acids
Inheritance
Autosomal dominant
Also known as
Cav3.1, NBR13
MANE Select transcript
ENST00000359106.10NM_018896.5
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

  • 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.

      • ClinGen rates the link definitive
      • 6 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.

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 CACNA1G is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where CACNA1G sits. CACNA1G and 23 genes near it on chromosome 17, from 50,094,095 to 51,094,094.Chromosome 1717q21.33p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.350.2 Mb50.4 Mb50.6 Mb50.8 Mb51 MbPDK2: 50,094,737–50,120,276, forward strandPDK2SAMD14: 50,110,040–50,130,160, reverse strandSAMD14PPP1R9B: 50,133,732–50,151,020, reverse strandPPP1R9BSGCA: 50,164,214–50,175,935, forward strandSGCACOL1A1: 50,184,101–50,201,704, reverse strandCOL1A1TMEM92: 50,271,406–50,281,916, forward strandTMEM92XYLT2: 50,346,080–50,363,138, forward strandXYLT2MRPL27: 50,367,293–50,373,207, reverse strandMRPL27EME1: 50,373,215–50,383,858, forward strandEME1LRRC59: 50,375,059–50,398,227, reverse strandLRRC59ACSF2: 50,426,158–50,474,845, forward strandACSF2CHAD: 50,464,478–50,468,976, reverse strandCHADRSAD1: 50,478,770–50,486,371, forward strandRSAD1MYCBPAP: 50,508,409–50,531,501, forward strandMYCBPAPEPN3: 50,532,543–50,543,750, forward strandEPN3SPATA20: 50,543,058–50,558,366, forward strandSPATA20CACNA1G: 50,560,715–50,627,474, forward strandCACNA1GABCC3: 50,634,609–50,692,631, forward strandABCC3ANKRD40: 50,693,197–50,707,920, reverse strandANKRD40LUC7L3: 50,719,565–50,756,219, forward strandLUC7L3ANKRD40CL: 50,760,960–50,767,570, reverse strandANKRD40CLWFIKKN2: 50,834,650–50,842,353, forward strandWFIKKN2TOB1: 50,861,311–50,867,978, reverse strandTOB1SPAG9: 50,962,174–51,120,926, reverse strandSPAG9Diagram of CACNA1G: 38 exons on the forward strand of chromosome 17Exon 3: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 17: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 25: 3 known disease-causing sitesExon 28: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 33: 1 known disease-causing siteExon 35: 1 known disease-causing siteExon 1: 50,560,715–50,561,701, 987 basesExon 2: 50,568,870–50,568,981, 112 basesExon 3: 50,569,165–50,569,298, 134 basesExon 4: 50,569,706–50,569,803, 98 basesExon 5: 50,571,878–50,572,037, 160 basesExon 6: 50,572,554–50,572,854, 301 basesExon 7: 50,573,021–50,573,113, 93 basesExon 8: 50,575,543–50,576,326, 784 basesExon 9: 50,578,188–50,578,564, 377 basesExon 10: 50,590,471–50,590,622, 152 basesExon 11: 50,591,435–50,591,620, 186 basesExon 12: 50,591,739–50,591,853, 115 basesExon 13: 50,591,937–50,592,092, 156 basesExon 14: 50,594,993–50,595,061, 69 basesExon 15: 50,596,562–50,596,646, 85 basesExon 16: 50,596,730–50,596,923, 194 basesExon 17: 50,599,428–50,599,859, 432 basesExon 18: 50,600,726–50,600,826, 101 basesExon 19: 50,601,051–50,601,174, 124 basesExon 20: 50,602,820–50,602,888, 69 basesExon 21: 50,603,015–50,603,199, 185 basesExon 22: 50,604,155–50,604,281, 127 basesExon 23: 50,605,898–50,606,023, 126 basesExon 24: 50,606,900–50,606,989, 90 basesExon 25: 50,607,827–50,608,019, 193 basesExon 26: 50,609,882–50,609,935, 54 basesExon 27: 50,615,361–50,615,512, 152 basesExon 28: 50,616,275–50,616,384, 110 basesExon 29: 50,617,438–50,617,571, 134 basesExon 30: 50,617,859–50,617,929, 71 basesExon 31: 50,618,048–50,618,126, 79 basesExon 32: 50,618,222–50,618,343, 122 basesExon 33: 50,618,655–50,619,008, 354 basesExon 34: 50,619,683–50,619,826, 144 basesExon 35: 50,621,660–50,621,794, 135 basesExon 36: 50,623,907–50,624,075, 169 basesExon 37: 50,624,360–50,624,529, 170 basesExon 38: 50,626,017–50,627,474, 1,458 bases15101520253035385′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 66.8 kb; 7,134 of those bases code for the protein.

How a genome test reads CACNA1G

16

positions in CACNA1G 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 66.8 kb of CACNA1G, introns included, not only the 8.6 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.). CACNA1G gene: calcium voltage-gated channel subunit alpha1 G. Retrieved 16 October 2026, from https://dantelabs.com/genes/cacna1g

Vancouver

Dante Labs. CACNA1G gene: calcium voltage-gated channel subunit alpha1 G [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cacna1g

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