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aquaporin-2; AQP-2; Aquaporin-CD; AQP-CD; water channel protein for renal collecting duct; ADH water channel; collecting duct water channel protein; WCH-CD (AQP2)
Function:
- forms a water-specific channel that provides plasma membranes of renal collecting duct with high permeability to water, permitting water to move in the direction of an osmotic gradient
- Ser-256 phosphorylation is necessary & sufficient for expression at the apical membrane
- endocytosis is not phosphorylation-dependent
Structure:
- aquaporins contain two tandem repeats each containing 3 membrane-spanning domains & a pore-forming loop with the signature motif Asn-Pro-Ala (NPA)
- belongs to the MIP/aquaporin (TC 1.A.8) family
Compartment:
- apical cell membrane
- cytoplasmic vesicle membrane
- shuttles from vesicles to the apical membrane
Expression: expressed in renal collecting tubules
Pathology:
- defects in AQP2 are the cause of nephrogenic diabetes insipidus type 2
General
aquaporin
phosphoprotein
transmembrane 6 protein
Properties
SIZE: entity length = 271 aa
MW = 29 kD
COMPARTMENT: cytoplasm
MOTIF: cytoplasmic domain {1-16}
transmembrane domain {17-34}
exoplasmic loop {35-40}
transmembrane domain {41-59}
cytoplasmic loop {60-85}
MOTIF: peptide motif {68-70}
transmembrane domain {86-107}
exoplasmic loop {108-127}
MOTIF: N-glycosylation site {N123}
transmembrane domain {128-148}
cytoplasmic loop {149-156}
transmembrane domain {157-176}
exoplasmic loop {177-202}
MOTIF: peptide motif {184-186}
transmembrane domain {203-224}
cytoplasmic domain {225-271}
MOTIF: Ser phosphorylation site {S256}
Ser phosphorylation site {S261}
Ser phosphorylation site {S264}
Database Correlations
OMIM correlations
MORBIDMAP 107777
UniProt P41181
Pfam PF00230
Entrez Gene 359
Kegg hsa:359
References
- UniProt :accession P41181
- Nephrogenic & neurogenic diabetes insipidus; Note: AQP2 pages
http://www.medicine.mcgill.ca/nephros/aqp2.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP2