AQP3

Chr 9

aquaporin 3 (Gill blood group)

Also known as: AQP-3, GIL

NCBI Gene: 360 ENSG00000165272 UniProt: Q92482

Aquaporin 3 is a transmembrane channel protein that transports water, glycerol, and urea across cell membranes, playing important roles in kidney water reabsorption and skin hydration. Mutations in this gene cause GIL blood group variants, which are inherited in an autosomal pattern. The gene shows moderate tolerance to loss-of-function variants (LOEUF 0.644), suggesting some functional redundancy in its biological pathways.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

180

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.64

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)