AQP2, Aquaporin-2, AQP-2, ADH water channel, Aquaporin-CD, AQP-CD, Collecting duct water channel protein, WCH-CD, Water channel protein for renal collecting duct
This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008],disease:Defects in AQP2 are the cause of diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800], also known as diabetes insipidus nephrogenic type 2. ANDI is caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. It is characterized by excessive water drinking (polydypsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive.,domain:Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).,function:Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient.,online information:AQP2 pages,PTM:Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent.,similarity:Belongs to the MIP/aquaporin (TC 1.A.8) family.,subcellular location:Shuttles from vesicles to the apical membrane.,tissue specificity:Expressed in renal collecting tubules.,
