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Gene

AQP5

aquaporin 5

Summary

Cytogenetic location
12q13.12
Coordinates
Chromosome 12: 49,961,872–49,965,682 (GRCh38)
Exons
4 exons across 3.8 kb
Protein
265 amino acids
MANE Select transcript
ENST00000293599.7NM_001651.4
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 report relevant to this gene

  • Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita

    • Hereditary palmoplantar keratoderma

      Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.

How AQP5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 12, with a bracket where AQP5 sits. AQP5 and 21 genes near it on chromosome 12, from 49,463,777 to 50,463,776.Chromosome 1212q13.12p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3349.6 Mb49.8 Mb50 Mb50.2 Mb50.4 MbSPATS2: 49,366,240–49,528,438, forward strandSPATS2KCNH3: 49,539,020–49,558,346, forward strandKCNH3MCRS1: 49,556,544–49,568,150, reverse strandMCRS1PRPF40B: 49,568,218–49,644,666, forward strandPRPF40BFAM186B: 49,582,885–49,605,639, reverse strandFAM186BFMNL3: 49,636,499–49,708,165, reverse strandFMNL3TMBIM6: 49,707,725–49,764,935, forward strandTMBIM6NCKAP5L: 49,790,615–49,828,750, reverse strandNCKAP5LBCDIN3D: 49,836,043–49,843,133, reverse strandBCDIN3DFAIM2: 49,866,896–49,904,217, reverse strandFAIM2AQP2: 49,950,736–49,958,881, forward strandAQP2AQP5: 49,961,872–49,965,682, forward strandAQP5AQP6: 49,967,194–49,977,152, forward strandAQP6RACGAP1: 49,976,923–50,033,136, reverse strandRACGAP1ASIC1: 50,057,351–50,083,621, forward strandASIC1SMARCD1: 50,085,196–50,101,870, forward strandSMARCD1GPD1: 50,103,982–50,129,648, forward strandGPD1COX14: 50,111,982–50,120,463, forward strandCOX14CERS5: 50,129,289–50,167,533, reverse strandCERS5LIMA1: 50,175,788–50,283,550, reverse strandLIMA1FAM186A: 50,326,230–50,396,622, reverse strandFAM186ALARP4: 50,392,383–50,480,007, forward strandLARP4Diagram of AQP5: 4 exons on the forward strand of chromosome 12Exon 2: 1 known disease-causing siteExon 1: 49,961,872–49,962,380, 509 basesExon 2: 49,963,492–49,963,656, 165 basesExon 3: 49,964,092–49,964,175, 84 basesExon 4: 49,964,992–49,965,682, 691 bases12345′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 1.4 kb of the gene's 3.8 kb; 798 of those bases code for the protein.

How a genome test reads AQP5

1

position in AQP5 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 3.8 kb of AQP5, introns included, not only the 1.4 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.). AQP5 gene: aquaporin 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/aqp5

Vancouver

Dante Labs. AQP5 gene: aquaporin 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aqp5

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