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...
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