AQP9
aquaporin 9
Summary
The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs57139208 | 15:58,428,741 | C/T | upstream gene variant | — |
| rs757843275 | 15:58,430,841 | C/A | — | uncertain significance |
| rs78177848 | 15:58,441,366 | C/T | upstream gene variant | — |
| rs2414539 | 15:58,453,506 | A/T | intron variant | — |
| rs935207 | 15:58,457,789 | T/C | intron variant | — |
| rs147206102 | 15:58,458,918 | G/A | — | likely benign |
| rs2505033926 | 15:58,458,974 | A/G | — | uncertain significance |
| rs536480649 | 15:58,458,989 | G/T | — | uncertain significance |
| rs200885186 | 15:58,465,324 | G/T | — | uncertain significance |
| rs148872883 | 15:58,465,385 | C/T | — | likely benign |
| rs200107166 | 15:58,465,386 | G/A | — | uncertain significance |
| rs2280195 | 15:58,467,095 | G/A | intron variant | — |
| rs367676440 | 15:58,467,155 | G/A | — | uncertain significance |
| rs759164964 | 15:58,467,195 | C/G | — | uncertain significance |
| rs923172328 | 15:58,467,197 | G/A | — | uncertain significance |
| rs146866709 | 15:58,467,216 | C/T | — | uncertain significance |
| rs1711058 | 15:58,470,324 | T/G | — | — |
| rs1028882622 | 15:58,471,386 | G/T | — | uncertain significance |
| rs201263790 | 15:58,471,418 | T/C | — | uncertain significance |
| rs199569670 | 15:58,471,435 | G/A | — | uncertain significance |
| rs1305241527 | 15:58,471,457 | T/G | — | uncertain significance |
| rs16939881 | 15:58,471,979 | G/C | regulatory region variant | — |
| rs753410663 | 15:58,476,210 | C/T | — | uncertain significance |
| rs2505064970 | 15:58,476,275 | T/C | — | uncertain significance |
| rs776240993 | 15:58,476,317 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.