The pkd2 gene encodes the protein polycystin-2, a member of the transient receptor potential (TRP) protein family. The genetic locus for pkd2 was elucidated in 1993 by the Kumar and Spruit groups during the search for genes involved in autosomal dominant polycystic kidney disease (ADPKD) (Kimberling et al. 1993; Peters et al. 1993). Mutations in pkd2 account for approximately 15% of the ADPKD patients, with the remainder of ADPKD patients having mutations in pkd1 or pkhd1 (Koulen and McClung 2006).
Functionally, polycystin-2 has been implicated in Ca2+ release from intracellular stores (Koulen et al. 2002, 2005; Kaja et al. 2011). In conjunction with polycystin-1, polycystin-2 forms a receptor-calcium channel complex that is formed in the cilium of renal epithelial cells (Xia et al. 2010). In C. elegans both polycystin-1 and -2 are expressed in the primary cilia of sensory neurons (Barr and Sternberg 1999). These...
- Koulen P, McClung NM. Polycystin 2. [Web Page]: Nature Molecule Pages; 2006 [cited 2006 May].Google Scholar
- Sammels E, Devogelaere B, Mekahli D, Bultynck G, Missiaen L, Parys JB, et al. Polycystin-2 activation by inositol 1,4,5-trisphosphate-induced Ca2+ release requires its direct association with the inositol 1,4,5-trisphosphate receptor in a signaling microdomain. J Biol Chem. 2010;285(24):18794–18805.PubMedGoogle Scholar
- Tsiokas L. Function and regulation of TRPP2 at the plasma membrane. Am J Physiol Ren Physiol. 2009;297(1):F1–F9.Google Scholar