AQP7
Chr 9aquaporin 7
Also known as: AQP7L, AQPap, GLYCQTL
This protein functions as a transmembrane channel that transports water, glycerol, and urea across cell membranes, playing a critical role in energy homeostasis by facilitating glycerol efflux from adipocytes and glycerol reabsorption in the kidney. Mutations cause autosomal recessive inheritance of altered glycerol metabolism, though specific clinical phenotypes beyond quantitative trait effects on glycerol levels have not been well-characterized. The gene shows high tolerance to loss-of-function variants (LOEUF 1.95), suggesting that complete loss of function may be required for clinical manifestations.
Some data sources returned errors (1)
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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
98 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 60 |
Likely Pathogenic | — | — | — | — | 8 |
VUS | — | — | — | — | 9 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 5 |
Conflicting | — | 1 | |||
| Total | — | 84 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
AQP7 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools