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Gene

CA2

carbonic anhydrase 2

Summary

Cytogenetic location
8q21.2
Coordinates
Chromosome 8: 85,464,007–85,481,493 (GRCh38)
Exons
7 exons across 17.5 kb
Protein
260 amino acids
Also known as
Car2, CA-II, CAII
MANE Select transcript
ENST00000285379.10NM_000067.3
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

  • Osteopetrosis

    • Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.

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

How CA2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 8, with a bracket where CA2 sits. CA2 and 6 genes near it on chromosome 8, from 84,972,750 to 85,972,749.Chromosome 88q21.2p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.385 Mb85.2 Mb85.4 Mb85.6 Mb85.8 MbLRRCC1: 85,107,079–85,146,402, forward strandLRRCC1E2F5: 85,177,107–85,217,158, forward strandE2F5RBIS: 85,213,641–85,220,793, reverse strandRBISCA13: 85,220,587–85,312,091, forward strandCA13CA1: 85,327,608–85,379,014, reverse strandCA1CA3: 85,373,436–85,449,045, forward strandCA3CA2: 85,464,007–85,481,493, forward strandCA2Diagram of CA2: 7 exons on the forward strand of chromosome 8Exon 1: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 6: 3 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 1: 85,464,007–85,464,115, 109 basesExon 2: 85,465,272–85,465,469, 198 basesExon 3: 85,473,693–85,473,811, 119 basesExon 4: 85,474,324–85,474,416, 93 basesExon 5: 85,475,798–85,475,860, 63 basesExon 6: 85,477,120–85,477,275, 156 basesExon 7: 85,480,670–85,481,493, 824 bases12345675′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 1.6 kb of the gene's 17.5 kb; 783 of those bases code for the protein.

How a genome test reads CA2

13

positions in CA2 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 17.5 kb of CA2, introns included, not only the 1.6 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.). CA2 gene: carbonic anhydrase 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/ca2

Vancouver

Dante Labs. CA2 gene: carbonic anhydrase 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ca2

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