AQP5

Chr 12AD

aquaporin 5

Also known as: AQP-5, PPKB

NCBI Gene: 362ENSG00000161798UniProt: P55064OMIM: 600442

Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Palmoplantar keratoderma, Bothnian typeMIM #600231
AD
UniProtKeratoderma, palmoplantar, Bothnian type

Clinical highlights

Interpreting a novel variant
Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
151
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.06
LOEUF
GOF*
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.06LOEUF
pLI 0.053
Z-score 1.48
OE 0.41 (0.19–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.38Z-score
OE missense 0.92 (0.81–1.05)
156 obs / 169.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.41 (0.19–1.06)
0≤0.351.4
Missense OE?0.92 (0.81–1.05)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 3 / 7.3Missense obs/exp: 156 / 169.8Syn Z: 0.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AQP5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients