Entrez gene ID | | 359 |
Official gene symbol | | AQP2 |
Full name | | aquaporin 2 (collecting duct) |
Aliases | | ,AQP-CD,MGC34501,WCH-CD, |
Gene 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] |
Location | | Chromosome: 12 Locus: 12q12-q13 |
Gene position | | 50344524 - 50352664 Map Viewer |
Gene orientation | | plus |
Gene size | | 8141 bp |
Gene sequence |
| |
OMIM ID | | 107777 |
|