Polycystic kidney disease 2

Polycystic kidney disease 2

Polycystic kidney disease 2 (autosomal dominant)
2KLD.
Available structures
PDB Ortholog search: RCSB
Identifiers
PKD2 Gene
Orthologs
SpeciesHumanMouse

Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.[1][2]

This gene encodes a member of the polycystin protein family, called TRPP2, previously known as polycystin-2, PC2 or APKD2. TRPP2 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 homoeostasis 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.

Clinical significance

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.[2]

Interactions

Polycystic kidney disease 2 has been shown to interact with TRPC1,[3] PKD1[4][3] and TNNI3.[5]

See also

References

External links

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

Further reading