AQP8
Chr 16aquaporin 8
Also known as: AQP-8
Aquaporin 8 is a water channel protein that facilitates transport of water, hydrogen peroxide, and ammonia across cellular membranes including plasma membranes, mitochondrial membranes, and endoplasmic reticulum in tissues such as liver, intestine, and kidney. The gene shows low constraint against loss-of-function variants (pLI 0.0004, LOEUF 1.12), and no clear disease associations have been established from the available data. The protein plays roles in bile formation, mitochondrial hydrogen peroxide release affecting cholesterol synthesis, and cellular responses to acidosis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AQP8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools