AQP2 Back

aquaporin 2 (collecting duct)

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NCBI Description of AQP2
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.

Community Annotation of AQP2 Add / Edit AQP2: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

AQP2 is highly significantly mutated in
(none)
AQP2 is significantly mutated in
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AQP2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for AQP2