AQP7 Chromosome 9
Aquaporin 7
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What This Gene Does
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]
Gene Info
Gene Group
Aquaporins
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000165269
Associated Conditions (6)
AQP7-related condition
OBESITY (BMIQ17)
SUSCEPTIBILITY TO
GLYCEROL QUANTITATIVE TRAIT LOCUS
Cervical cancer
Colon adenocarcinoma
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139024279 | Health Risk | Conflicting classifications of pathogenicity | AQP7-related condition, AQP7-related condition |
| RS2989924 | Health Risk | risk factor | OBESITY (BMIQ17), SUSCEPTIBILITY TO, OBESITY (BMIQ17) |
| RS62542743 | Trait | Affects | GLYCEROL QUANTITATIVE TRAIT LOCUS, Cervical cancer, Colon adenocarcinoma |