Aliases for AQP2 Gene
External Ids for AQP2 Gene
Previous GeneCards Identifiers for AQP2 Gene
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]
GeneCards Summary for AQP2 Gene
AQP2 (Aquaporin 2) is a Protein Coding gene. Diseases associated with AQP2 include Diabetes Insipidus, Nephrogenic, Autosomal and Diabetes Insipidus. Among its related pathways are Aquaporin-mediated transport and Nanog in Mammalian ESC Pluripotency. Gene Ontology (GO) annotations related to this gene include actin binding and PDZ domain binding. An important paralog of this gene is AQP5.
UniProtKB/Swiss-Prot Summary for AQP2 Gene
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 (PubMed:8140421, PubMed:7524315, PubMed:7510718, PubMed:15509592). Plays an essential role in renal water homeostasis (PubMed:8140421, PubMed:7524315, PubMed:15509592).
Aquaporins (AQPs) are integral membrane proteins that facilitate the transport of water across biological membranes along an osmotic gradient. There have been 13 AQP isoforms (AQP0-AQP12) identified in humans and rodents to date.