rs2381004
This variant is located in the AQP7 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genetic variation in human aquaporins and effects on phenotypes of water homeostasisReviewMarco D. Sorani et al.(2008)· Human Mutation
This review article examines genetic variation in human aquaporins (AQPs), a family of 13 water and solute transport proteins, and their effects on water homeostasis phenotypes. The authors catalog naturally-occurring variants in AQP genes from published studies and genomic databases (HapMap, Celera, Perlegen), focusing on nonsynonymous mutations. They analyze functional domains critical for AQP function (NPA pore motifs, transmembrane domains, posttranslational modification sites) and use structural analysis to predict effects of uncharacterized variants. The paper identifies multiple disease-associated AQP mutations causing phenotypes including nephrogenic diabetes insipidus (AQP2), cataracts (AQP0/MIP), and Sjögren syndrome (AQP5).
About AQP7
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]
View all AQP7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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