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Polycystin 2

Protein and coding gene in humans From Wikipedia, the free encyclopedia

Polycystin 2
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Polycystin-2 (PC2)[5] is a protein that in humans is encoded by the PKD2 gene.[6][7][8]

Quick Facts PKD2, Available structures ...

The gene PKD2 also known as TRPP2, encodes a member of the polycystin protein family, called TRPP, and contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP2 may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homeostasis and other signal transduction pathways. This protein interacts with polycystin 1 (TRPP1) to produce cation-permeable currents. It was discovered by Stefan Somlo at Yale University.

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Illustration of PKD1 and PKD2 proteins at the cell membrane
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Clinical significance

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.[8]

Interactions

Polycystin 2 has been shown to interact with the proteins TRPC1,[9] PKD1[9][10] and TNNI3.[11]

See also

References

Further reading

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