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 Glucose / Energy Metabolism. 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.