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]
Function
PDZ domain binding; actin binding; glycerol transmembrane transporter activity; water channel activity; water transmembrane transporter activity
Synonyms
AQP2; aquaporin 2 (collecting duct); AQP-CD; WCH-CD; aquaporin-2; AQP-2; aquaporin-CD; ADH water channel; water-channel aquaporin 2; collecting duct water channel protein; water channel protein for renal collecting duct
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