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Gene

CA4

carbonic anhydrase 4

Summary

Cytogenetic location
17q23.1
Coordinates
Chromosome 17: 60,149,973–60,159,546 (GRCh38)
Exons
8 exons across 9.6 kb
Protein
312 amino acids
Also known as
CAIV, Car4
Previous symbols
RP17
MANE Select transcript
ENST00000300900.9NM_000717.5
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

    • Retinitis Pigmentosa

      • One of 77 genes linked to it

        A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

        • 1 GenCC submitter rates it definitive or strong

    How CA4 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    Chromosome 17, with a bracket where CA4 sits. CA4 and 12 genes near it on chromosome 17, from 59,654,760 to 60,654,759.Chromosome 1717q23.1p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.359.8 Mb60 Mb60.2 Mb60.4 Mb60.6 MbCLTC: 59,619,606–59,696,956, forward strandCLTCPTRH2: 59,674,636–59,707,638, reverse strandPTRH2VMP1: 59,707,192–59,842,255, forward strandVMP1TUBD1: 59,859,038–59,892,951, reverse strandTUBD1RPS6KB1: 59,893,035–59,963,336, forward strandRPS6KB1RNFT1: 59,896,781–59,964,777, reverse strandRNFT1: 59,940,908–59,973,101, forward strandHEATR6: 60,041,008–60,078,933, reverse strandHEATR6CA4: 60,149,973–60,159,546, forward strandCA4USP32: 60,177,184–60,422,470, reverse strandUSP32CHCT1: 60,392,429–60,431,426, forward strandCHCT1APPBP2: 60,443,158–60,526,242, reverse strandAPPBP2PPM1D: 60,599,735–60,666,293, forward strandPPM1DDiagram of CA4: 8 exons on the forward strand of chromosome 17Exon 1: 60,149,973–60,150,092, 120 basesExon 2: 60,155,314–60,155,367, 54 basesExon 3: 60,156,560–60,156,715, 156 basesExon 4: 60,157,427–60,157,572, 146 basesExon 5: 60,157,690–60,157,788, 99 basesExon 6: 60,158,061–60,158,127, 67 basesExon 7: 60,158,283–60,158,446, 164 basesExon 8: 60,159,230–60,159,546, 317 bases123456785′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 9.6 kb; 939 of those bases code for the protein.

    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.
    • 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.). CA4 gene: carbonic anhydrase 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/ca4

    Vancouver

    Dante Labs. CA4 gene: carbonic anhydrase 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ca4

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