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MGP000182

UniProt Annotations

Entry Information
Gene Nameaquaporin 2 (collecting duct)
Protein EntryAQP2_HUMAN
UniProt IDP41181
SpeciesHuman
Comments
Comment typeDescription
DiseaseDiabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive. {ECO:0000269|PubMed:12050236, ECO:0000269|PubMed:12191971, ECO:0000269|PubMed:15509592, ECO:0000269|PubMed:16120822, ECO:0000269|PubMed:16361827, ECO:0000269|PubMed:16845277, ECO:0000269|PubMed:19585583, ECO:0000269|PubMed:24944815, ECO:0000269|PubMed:7524315, ECO:0000269|PubMed:8882880, ECO:0000269|PubMed:9048343, ECO:0000269|PubMed:9302264, ECO:0000269|PubMed:9402087, ECO:0000269|PubMed:9550615, ECO:0000269|PubMed:9649557, ECO:0000269|PubMed:9745427}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainAquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).
FunctionForms 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.
PtmSer-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent. {ECO:0000269|PubMed:12194985}.
SimilarityBelongs to the MIP/aquaporin (TC 1.A.8) family. {ECO:0000305}.
Subcellular LocationApical cell membrane {ECO:0000269|PubMed:12194985}; Multi-pass membrane protein {ECO:0000269|PubMed:12194985}. Basolateral cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:12194985}; Multi- pass membrane protein {ECO:0000269|PubMed:12194985}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:12194985}; Multi-pass membrane protein {ECO:0000269|PubMed:12194985}. Note=Shuttles from vesicles to the apical membrane. Vasopressin-regulated phosphorylation is required for translocation to the apical cell membrane. PLEKHA8/FAPP2 is required to transport AQP2 from the TGN to sites where AQP2 is phosphorylated.
Tissue SpecificityExpressed in renal collecting tubules.
Web ResourceName=Nephrogenic and neurogenic Diabetes Insipidus; Note=AQP2 pages; URL="http://www.medicine.mcgill.ca/nephros/aqp2.html";
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