Encyclopedia of Signaling Molecules

2012 Edition
| Editors: Sangdun Choi


  • Daryl L. Goad
  • Michael A. Grillo
  • Peter Koulen
Reference work entry
DOI: https://doi.org/10.1007/978-1-4419-0461-4_345


 APKD2;  PC2;  PKD2;  PKD4;  TRPP1

Historical Background

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...

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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Daryl L. Goad
    • 1
  • Michael A. Grillo
    • 1
  • Peter Koulen
    • 1
  1. 1.Department of Ophthalmology and Department of Basic Medical ScienceUniversity of Missouri - Kansas City School of Medicine, Vision Research CenterKansas CityUSA