Variants in human PKD2 account for ∼15% of cases of autosomal dominant polycystic kidney disease (ADPKD) (Grantham, 2001; Mochizuki et al., 1996), a common ciliopathy that is characterized by progressive cyst development, which ultimately causes renal failure. The gene discussed is PKD2; the disease is autosomal dominant polycystic kidney disease.