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Gene

CACNA1B

calcium voltage-gated channel subunit alpha1 B

Summary

Cytogenetic location
9q34.3
Coordinates
Chromosome 9: 137,877,782–138,124,619 (GRCh38)
Exons
47 exons across 246.8 kb
Protein
2,339 amino acids
Also known as
Cav2.2, CACNN
Previous symbols
CACNL1A5
MANE Select transcript
ENST00000371372.6NM_000718.4
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 reports relevant to this gene

No Genome Test report reads CACNA1B yet. The test sequences your whole genome, so your data includes it all the same.

How CACNA1B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where CACNA1B sits. CACNA1B and 6 genes near it on chromosome 9, from 137,501,201 to 138,501,200.Chromosome 99q34.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3137.6 Mb137.8 Mb138 Mb138.2 Mb138.4 MbPNPLA7: 137,459,952–137,550,560, reverse strandPNPLA7MRPL41: 137,550,424–137,552,555, forward strandMRPL41DPH7: 137,554,436–137,578,936, reverse strandDPH7ZMYND19: 137,582,066–137,590,520, reverse strandZMYND19ARRDC1: 137,605,619–137,617,859, forward strandARRDC1EHMT1: 137,618,901–137,870,016, forward strandEHMT1CACNA1B: 137,877,782–138,124,619, forward strandCACNA1BDiagram of CACNA1B: 47 exons on the forward strand of chromosome 9Exon 1: 3 known disease-causing sitesExon 42: 1 known disease-causing siteExon 1: 137,877,782–137,878,217, 436 basesExon 2: 137,879,054–137,879,159, 106 basesExon 3: 137,882,744–137,882,883, 140 basesExon 4: 137,913,180–137,913,271, 92 basesExon 5: 137,914,654–137,914,806, 153 basesExon 6: 137,917,241–137,917,431, 191 basesExon 7: 137,952,274–137,952,377, 104 basesExon 8: 137,955,698–137,955,813, 116 basesExon 9: 137,956,771–137,956,827, 57 basesExon 10: 137,957,598–137,957,687, 90 basesExon 11: 137,971,383–137,971,592, 210 basesExon 12: 137,975,907–137,976,019, 113 basesExon 13: 137,984,138–137,984,250, 113 basesExon 14: 137,986,413–137,986,544, 132 basesExon 15: 137,986,782–137,986,854, 73 basesExon 16: 138,006,767–138,006,884, 118 basesExon 17: 138,010,010–138,010,077, 68 basesExon 18: 138,013,129–138,013,235, 107 basesExon 19: 138,023,011–138,023,811, 801 basesExon 20: 138,024,955–138,025,172, 218 basesExon 21: 138,043,774–138,043,900, 127 basesExon 22: 138,046,904–138,047,033, 130 basesExon 23: 138,047,399–138,047,458, 60 basesExon 24: 138,049,209–138,049,315, 107 basesExon 25: 138,052,092–138,052,188, 97 basesExon 26: 138,053,846–138,054,006, 161 basesExon 27: 138,057,732–138,057,869, 138 basesExon 28: 138,058,049–138,058,250, 202 basesExon 29: 138,058,569–138,058,733, 165 basesExon 30: 138,059,079–138,059,189, 111 basesExon 31: 138,059,654–138,059,737, 84 basesExon 32: 138,069,758–138,069,763, 6 basesExon 33: 138,073,488–138,073,604, 117 basesExon 34: 138,074,001–138,074,066, 66 basesExon 35: 138,075,819–138,075,910, 92 basesExon 36: 138,078,114–138,078,258, 145 basesExon 37: 138,096,484–138,096,611, 128 basesExon 38: 138,102,711–138,102,807, 97 basesExon 39: 138,105,699–138,105,807, 109 basesExon 40: 138,112,398–138,112,505, 108 basesExon 41: 138,114,378–138,114,490, 113 basesExon 42: 138,115,552–138,115,679, 128 basesExon 43: 138,117,946–138,118,081, 136 basesExon 44: 138,118,652–138,118,768, 117 basesExon 45: 138,120,165–138,120,372, 208 basesExon 46: 138,120,631–138,120,881, 251 basesExon 47: 138,121,469–138,124,619, 3,151 bases110203040475′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 9.8 kb of the gene's 246.8 kb; 7,020 of those bases code for the protein.

How a genome test reads CACNA1B

5

positions in CACNA1B where ClinVar classes a change as pathogenic or likely pathogenic

2 of them (40%) fall in regions short reads find hard.

  • Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 246.8 kb of CACNA1B, introns included, not only the 9.8 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.
  • 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.). CACNA1B gene: calcium voltage-gated channel subunit alpha1 B. Retrieved 17 October 2026, from https://dantelabs.com/genes/cacna1b

Vancouver

Dante Labs. CACNA1B gene: calcium voltage-gated channel subunit alpha1 B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cacna1b

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