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Gene

AQP2

aquaporin 2

Summary

Cytogenetic location
12q13.12
Coordinates
Chromosome 12: 49,950,737–49,958,878 (GRCh38)
Exons
4 exons across 8.1 kb
Protein
271 amino acids
MANE Select transcript
ENST00000199280.4NM_000486.6
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

  • Nephrogenic Diabetes Insipidus

    • An inability of the kidneys to concentrate urine, most often X-linked (AVPR2) and less often autosomal (AQP2), presenting with excessive thirst, urination and dehydration from infancy.

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

      Early diagnosis helps prevent dangerous dehydration and high sodium in infancy, and treatment with diet, thiazides or anti-inflammatory drugs can reduce urine output.

How AQP2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 12, with a bracket where AQP2 sits. AQP2 and 21 genes near it on chromosome 12, from 49,454,808 to 50,454,807.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: 49,950,737–49,958,878, forward strandAQP2AQP5: 49,961,228–49,965,682, 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 AQP2: 4 exons on the forward strand of chromosome 12Exon 1: 20 known disease-causing sitesExon 2: 9 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 16 known disease-causing sitesExon 1: 49,950,737–49,951,190, 454 basesExon 2: 49,954,155–49,954,319, 165 basesExon 3: 49,954,630–49,954,710, 81 basesExon 4: 49,955,399–49,958,878, 3,480 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 4.2 kb of the gene's 8.1 kb; 816 of those bases code for the protein.

How a genome test reads AQP2

54

positions in AQP2 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 8.1 kb of AQP2, introns included, not only the 4.2 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.). AQP2 gene: aquaporin 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/aqp2

Vancouver

Dante Labs. AQP2 gene: aquaporin 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/aqp2

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