AQP12B
Chr 2aquaporin 12B
Also known as: INSSA3
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…
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.79LOEUF
pLI 0.002
Z-score 0.15
OE 0.92 (0.44–1.79)
Highly tolerant — LoF variants common in population
Missense Constraint?
-1.47Z-score
OE missense 1.37 (1.21–1.55)
172 obs / 125.7 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.92 (0.44–1.79)
0≤0.351.4
Missense OE?1.37 (1.21–1.55)
0≤0.61.4
Synonymous OE?1.46
0≤1.21.6
LoF obs/exp: 4 / 4.3Missense obs/exp: 172 / 125.7Syn Z: -3.02
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AQP12B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools