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GENATLAS PHENOTYPE
last update : 13-06-2009
Symbol PKD2
Location 4q22.1
Name polycystic kidney disease 2
Other name(s) polycystic kidney disease, adult, type II
Corresponding gene PKD2
related resource Polycystickidneyresearchfoundation
Main clinical features
  • adult type, better prognosis, occuring by a cellular recessive mechanism supporting a two-hit model for cyst formation (somatic mutation in the cysts)
  • associated with increased risk of intracranial aneurysm and with liver and pancreatic cysts
    • Genetic determination autosomal dominant
    Related entries similar to PKD1
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name polycystin 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein  
    Remark(s) . a majority of mutations resulting from either single base changes or small deletions or insertion introducing stop codons and leading to premature termination
  • PKD2 might function as an antiapoptotic ion channel, localizes to the ER and modulates Ca2+ signalling, and mutation lead to suppression of ER function and may be responsible for the increased apoptosis rates observed in polycystic kidneys (Wegierski 2009)
  • heteromeric cation channels comprised of the PKD2 mutant and the TRPC3 or TRPC7 protein induce enhanced receptor-activated Ca2+ influx that may lead to dysregulated cell growth in PKD2 (Miyagi 2009)
  • mutations that affect PKD2 C-terminal homo- and heteromerization are the likely molecular basis of cyst formation in PKD2 (Giamar chi 2010)
  • C-terminal cytoplasmic tail of polycystin-2 (PC2/TRPP2), a Ca2+-permeable channel, is frequently mutated or truncated in autosomal dominant polycystic kidney disease (Petri 2010)