PKD2 Back

polycystic kidney disease 2 (autosomal dominant)

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NCBI Description of PKD2
This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2.

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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

PKD2 is highly significantly mutated in
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PKD2 is significantly mutated in
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PKD2 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 PKD2