ID:AQP2_HUMAN DESCRIPTION: RecName: Full=Aquaporin-2; Short=AQP-2; AltName: Full=ADH water channel; AltName: Full=Aquaporin-CD; Short=AQP-CD; AltName: Full=Collecting duct water channel protein; AltName: Full=WCH-CD; AltName: Full=Water channel protein for renal collecting duct; FUNCTION: 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. SUBCELLULAR LOCATION: Apical cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein (By similarity). Cytoplasmic vesicle membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. 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 SPECIFICITY: Expressed in renal collecting tubules. DOMAIN: Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). PTM: Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent. DISEASE: Defects in AQP2 are the cause of diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]; also known as diabetes insipidus nephrogenic type 2. ANDI is caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. It is characterized by excessive water drinking (polydypsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive. SIMILARITY: Belongs to the MIP/aquaporin (TC 1.A.8) family. WEB RESOURCE: Name=Nephrogenic and neurogenic Diabetes Insipidus; Note=AQP2 pages; URL="http://www.medicine.mcgill.ca/nephros/aqp2.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AQP2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P41181
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK225940 - Homo sapiens mRNA for aquaporin 2 variant, clone: FCC116B11. BC042496 - Homo sapiens aquaporin 2 (collecting duct), mRNA (cDNA clone MGC:34501 IMAGE:5186409), complete cds. S73196 - AQP2=water-channel aquaporin 2 [human, autosomal nephrogenic diabetes insipidus patient, mRNA Mutant, 899 nt]. S73197 - AQP2=water-channel aquaporin 2 [human, autosomal nephrogenic diabetes insipidus patient, mRNA Mutant, 899 nt]. KJ896448 - Synthetic construct Homo sapiens clone ccsbBroadEn_05842 AQP2 gene, encodes complete protein. KR710991 - Synthetic construct Homo sapiens clone CCSBHm_00018674 AQP2 (AQP2) mRNA, encodes complete protein. KR710992 - Synthetic construct Homo sapiens clone CCSBHm_00018683 AQP2 (AQP2) mRNA, encodes complete protein. KR710993 - Synthetic construct Homo sapiens clone CCSBHm_00018692 AQP2 (AQP2) mRNA, encodes complete protein. KR710994 - Synthetic construct Homo sapiens clone CCSBHm_00018700 AQP2 (AQP2) mRNA, encodes complete protein. CR542024 - Homo sapiens full open reading frame cDNA clone RZPDo834G0735D for gene AQP2, aquaporin 2 (collecting duct); complete cds, without stopcodon. JD343730 - Sequence 324754 from Patent EP1572962. JD225308 - Sequence 206332 from Patent EP1572962. JD144161 - Sequence 125185 from Patent EP1572962. JD037559 - Sequence 18583 from Patent EP1572962. JD483882 - Sequence 464906 from Patent EP1572962. JD484122 - Sequence 465146 from Patent EP1572962. JD088962 - Sequence 69986 from Patent EP1572962. JD392564 - Sequence 373588 from Patent EP1572962. JD232988 - Sequence 214012 from Patent EP1572962. AK055824 - Homo sapiens cDNA FLJ31262 fis, clone KIDNE2005937. JD524525 - Sequence 505549 from Patent EP1572962. JD214309 - Sequence 195333 from Patent EP1572962. JD389478 - Sequence 370502 from Patent EP1572962. JD136632 - Sequence 117656 from Patent EP1572962. JD222627 - Sequence 203651 from Patent EP1572962. JD074737 - Sequence 55761 from Patent EP1572962. JD102274 - Sequence 83298 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P41181 (Reactome details) participates in the following event(s):
R-HSA-432232 Phosphorylation of Aquaporin-2 by Protein Kinase A (PKA) R-HSA-432065 p-S256-Aquaporin-2 passively transports water into cell R-HSA-507868 Aquaporins passively transport water into cells R-HSA-507870 Aquaporins passively transport water out of cells R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins R-HSA-445717 Aquaporin-mediated transport R-HSA-382551 Transport of small molecules R-HSA-432047 Passive transport by Aquaporins
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
