Mutations of the human polycystic kidney disease 2 (PKD2) gene

Hum Mutat. 2001;18(1):13-24. doi: 10.1002/humu.1145.


Autosomal dominant polycystic kidney disease (ADPKD) is an inherited nephropathy, usually of late onset (onset between third to seventh decade), primarily characterized by the formation of fluid-filled cysts in the kidneys. It is one of the most frequent inherited conditions affecting approximately 1:1,000 Caucasians. Two major genes have been identified and characterized in detail: PKD1 and PKD2, mapping on chromosomes 16p13.3 and 4q21-23, respectively. A third gene, PKD3, has been implicated in selected families. Polycystic kidney disease of types 1 or 2 follows a very similar course of symptoms, both being multisystem pleiotropic disorders of indistinguishable picture on clinical grounds. The only difference is that patients with PKD2 mutations run a milder course compared to PKD1 carriers, with an average 10-20 years later age of onset and lower probability to reach end-stage-renal failure. The proteins polycystin-1 and -2 are trans-membranous glycoproteins hypothesized to participate in a common signaling pathway, interacting with each other and with other proteins, and coordinately expressed in normal and cystic tissue. Renal cysts most probably arise after a second somatic event, which inactivates the inherited healthy allele of the same gene, or perhaps one of the alleles of the other gene counterpart, generating a trans-heterozygous state. This article reviews the reported mutations in PKD2. Mutations of all kinds have been reported over the entire sequence of the PKD2 gene, with no apparent significant clustering and with some evidence of genotype/phenotype correlation. Most families harbor their own private mutations but a few recurrent events have been reported in unrelated families.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genotype
  • Germ-Line Mutation / genetics
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Phenotype
  • Polycystic Kidney Diseases / genetics*
  • Polycystic Kidney Diseases / physiopathology
  • Polycystic Kidney Diseases / therapy
  • Polymorphism, Genetic / genetics
  • TRPP Cation Channels


  • Membrane Proteins
  • TRPP Cation Channels
  • polycystic kidney disease 2 protein

Associated data

  • GENBANK/AF004873