AQP10

Chr 1

aquaporin 10

Also known as: AQPA_HUMAN

NCBI Gene: 89872ENSG00000143595UniProt: Q96PS8OMIM: 606578

This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.11
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.11LOEUF
pLI 0.001
Z-score 1.33
OE 0.56 (0.31–1.11)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.33Z-score
OE missense 0.71 (0.61–0.83)
122 obs / 171.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.31–1.11)
0≤0.351.4
Missense OE?0.71 (0.61–0.83)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 6 / 10.7Missense obs/exp: 122 / 171.0Syn Z: 0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AQP10 · 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