AQP3
aquaporin 3 (Gill blood group)
Summary
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]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373432319 | 9:33,441,995 | A/C | — | likely benign |
| rs1021095972 | 9:33,442,205 | C/T | — | uncertain significance |
| rs1347380973 | 9:33,442,298 | C/T | — | affects |
| rs751533899 | 9:33,442,339 | G/T | — | uncertain significance |
| rs374165388 | 9:33,442,341 | C/T | — | uncertain significance |
| rs2489950052 | 9:33,442,450 | G/A | — | uncertain significance |
| rs2228332 | 9:33,442,952 | G/A | — | benign |
| rs778133652 | 9:33,443,436 | C/T | — | uncertain significance |
| rs1385987539 | 9:33,443,779 | C/T | — | uncertain significance |
| rs2228333 | 9:33,443,867 | G/A | — | benign |
| rs591810 | 9:33,447,424 | G/C | — | benign |
| rs1826932060 | 9:33,447,468 | G/C | — | uncertain significance |
| rs759820093 | 9:33,447,507 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.