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Polycystin-2

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Encyclopedia of Signaling Molecules

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Synonyms

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). Mutations in pkd2 may also contribute to inadequate heart function, a leading cause of mortality in ADPKD patients, as observed in patients, in pkd2+/− mice that lack renal deficiency, but display an age-dependent increase in cardiac dysfunction, and in pdk2+/− zebra fish, which exhibit impaired cardiac output (Chapman et al. 2010; Kuo et al. 2014, 2016; Paavola et al. 2013).

Functionally, polycystin-2 has been implicated in Ca 2+...

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Authors and Affiliations

  1. Department of Natural Science, Social Science, and Mathematics, Hutchinson Community College, 1300 N. Plum Ave, Hutchinson, KS, 67501, USA

    Daryl L. Goad

  2. Department of Ophthalmology and Department of Basic Medical Science, University of Missouri - Kansas City School of Medicine, Vision Research Center, 2411 Holmes Street, Kansas City, MO, 64108, USA

    Michael A. Grillo & Peter Koulen

Authors
  1. Daryl L. Goad
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  2. Michael A. Grillo
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  3. Peter Koulen
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Corresponding author

Correspondence to Peter Koulen .

Editor information

Editors and Affiliations

  1. Dept. Biological Science, Department of Molecular Science and Tech College of Natural Science, Suwon, Korea (Republic of)

    Sangdun Choi

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Goad, D.L., Grillo, M.A., Koulen, P. (2016). Polycystin-2. In: Choi, S. (eds) Encyclopedia of Signaling Molecules. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6438-9_345-1

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  • DOI: https://doi.org/10.1007/978-1-4614-6438-9_345-1

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