Gene Symbol | AQP2 |
Entrez Gene ID | 359 |
Full Name | aquaporin 2 |
Synonyms | AQP-CD,WCH-CD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Oct 2008]. |
Disorder MIM: | |
Disorder Html: | Diabetes insipidus, nephrogenic, 125800 (3) |