Entrez 5311 | Ensembl ENSG00000118762 | |
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Aliases PKD2, APC2, PKD4, Pc-2, TRPP2, Polycystic kidney disease 2, polycystin 2, transient receptor potential cation channel External IDs MGI: 1099818 HomoloGene: 20104 GeneCards: PKD2 | ||
Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.
Contents
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.
Interactions
Polycystic kidney disease 2 has been shown to interact with TRPC1, PKD1 and TNNI3.