Polycystin 2

Polycystin-2 (PC2) is a protein that in humans is encoded by the PKD2 gene.

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.

Illustration of PKD1 and PKD2 proteins at the cell membrane

Illustration of PKD1 and PKD2 proteins at the cell membrane

Clinical significance

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

Interactions

Polycystin 2 has been shown to interact with the proteins TRPC1, PKD1 and TNNI3.

See also

• HAX1
• TRPP

External links

• GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Dominant