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Gene

CA5A

carbonic anhydrase 5A

Summary

Cytogenetic location
16q24.2
Coordinates
Chromosome 16: 87,888,013–87,936,529 (GRCh38)
Exons
7 exons across 48.5 kb
Protein
305 amino acids
Also known as
CA5, CAV, CAVA
Previous symbols
CA5
MANE Select transcript
ENST00000649794.3NM_001739.2
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

  • Urea Cycle Disorder

    • A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Nitrogen scavenger therapy (sodium benzoate, glycerol phenylbutyrate/Ravicti); protein-restricted diet with essential amino acid supplementation; emergency hyperammonemia protocols; liver transplantation (curative); mRNA therapy trials for OTC; carglumic acid for NAGS deficiency

How CA5A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where CA5A sits. CA5A and 6 genes near it on chromosome 16, from 87,412,271 to 88,412,270.Chromosome 1616q24.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.387.6 Mb87.8 Mb88 Mb88.2 Mb88.4 MbZCCHC14: 87,406,246–87,493,030, reverse strandZCCHC14JPH3: 87,601,835–87,698,375, forward strandJPH3KLHDC4: 87,696,485–87,765,998, reverse strandKLHDC4SLC7A5: 87,830,016–87,869,514, reverse strandSLC7A5CA5A: 87,888,013–87,936,529, reverse strandCA5ABANP: 87,949,127–88,083,442, forward strandBANPZNF469: 88,382,959–88,440,757, forward strandZNF469Diagram of CA5A: 7 exons on the reverse strand of chromosome 16Exon 6: 3 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 7: 87,888,013–87,888,272, 260 basesExon 6: 87,891,799–87,891,954, 156 basesExon 5: 87,901,912–87,901,974, 63 basesExon 4: 87,902,425–87,902,520, 96 basesExon 3: 87,904,786–87,904,904, 119 basesExon 2: 87,926,748–87,926,945, 198 basesExon 1: 87,936,309–87,936,529, 221 bases764215′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 1.1 kb of the gene's 48.5 kb; 918 of those bases code for the protein.

How a genome test reads CA5A

9

positions in CA5A where ClinVar classes a change as pathogenic or likely pathogenic

9 of them (100%) fall in regions short reads find hard.

  • Low mappability (3 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (9 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 48.5 kb of CA5A, introns included, not only the 1.1 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.). CA5A gene: carbonic anhydrase 5A. Retrieved 16 October 2026, from https://dantelabs.com/genes/ca5a

Vancouver

Dante Labs. CA5A gene: carbonic anhydrase 5A [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ca5a

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