Aquaporin 2 è un gene codificato dal simbolo AQP2. Altri nomi includono: 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; AQP2. Aquaporin 2 ha una massa di 28.84kDa, una lunghezza di amminoacidi di 271, ed è implicato in Diabetes insipidus, nephrogenic, autosomal.
Offriamo 12 anticorpi contro Aquaporin 2, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA, ICC/IF e IP con campioni derivati da Umano, Topo, Ratto, Bovino e Pecora.
Informazioni su geni e proteine
Riepilogo UniProt
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).
Sommario di Entrez
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.
Specificità del tessuto
Expressed in collecting tubules in kidney medulla (at protein level) (PubMed:7510718). Detected in kidney (PubMed:7510718).
Coinvolgimento nella malattia
Diabetes insipidus, nephrogenic, autosomal: 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.
Somiglianze di sequenza
Belongs to the MIP/aquaporin (TC 1.A.8) family.
Modifica post-translazionale
Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent.
Posizione cellulare
Apical cell membrane. Basolateral cell membrane. Cell membrane. Cytoplasmic vesicle membrane. Golgi apparatus > trans-Golgi network membrane.
Shuttles from vesicles to the apical membrane (PubMed:15509592). Vasopressin-regulated phosphorylation is required for translocation to the apical cell membrane (PubMed:15509592). PLEKHA8/FAPP2 is required to transport AQP2 from the TGN to sites where AQP2 is phosphorylated (By similarity).
