AQP12A

Chr 2

aquaporin 12A

Also known as: AQP-12, AQP12, AQPX2

NCBI Gene: 375318ENSG00000184945UniProt: Q8IXF9

Predicted to enable channel activity. Predicted to be involved in transmembrane transport and water transport. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.53
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.53LOEUF
pLI 0.018
Z-score 0.77
OE 0.62 (0.28–1.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.90Z-score
OE missense 1.24 (1.08–1.43)
139 obs / 112.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.62 (0.28–1.53)
0≤0.351.4
Missense OE?1.24 (1.08–1.43)
0≤0.61.4
Synonymous OE?1.22
0≤1.21.6
LoF obs/exp: 3 / 4.8Missense obs/exp: 139 / 112.1Syn Z: -1.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AQP12A · 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