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AQP2 aquaporin 2

Gene ID: 359, updated on 12-Oct-2019
Also known as: AQP-CD; WCH-CD

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]

Genomic context

Location:
12q13.12
Sequence:
Chromosome: 12; NC_000012.12 (49950741..49958881)
Total number of exons:
4

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