| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
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. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Note=Shuttles from vesicles to the apical membrane. 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"; GENE SYNONYMS:AQP2. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 271 AA; 28837 MW; C2DDE2AF4DDD192A CRC64;
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| biopax3:xref | |
| biopax3:displayName |
AQP2_HUMAN
|
| biopax3:name |
ADH water channel,
AQP-2,
AQP-CD,
AQP2,
Aquaporin-CD,
Collecting duct water channel protein,
WCH-CD,
Water channel protein for renal collecting duct
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
|
| biopax3:standardName |
Aquaporin-2
|