AQP7
aquaporin 7
Summary
This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144994089 | 9:33,385,156 | C/T | synonymous variant | — |
| rs62542743 | 9:33,385,241 | C/A | missense variant | affects |
| rs139024279 | 9:33,385,690 | G/T | — | conflicting classifications of pathogenicity |
| rs201773300 | 9:33,385,740 | A/T | — | benign |
| rs114484742 | 9:33,385,750 | C/T | — | benign |
| rs117663392 | 9:33,385,771 | C/T | — | benign |
| rs771895202 | 9:33,386,400 | A/G | — | benign |
| rs74668961 | 9:33,386,465 | A/G | — | benign |
| rs2381004 | 9:33,395,119 | A/T | — | likely benign |
| rs2989924 | 9:33,403,470 | T/C | regulatory region variant | risk factor |
| rs3758269 | 9:33,403,640 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.