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Gene Review

Pkd2  -  polycystic kidney disease 2

Mus musculus

Synonyms: C030034P18Rik, PC2, Polycystic kidney disease 2 protein homolog, Polycystin-2, TRPP2, ...
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Disease relevance of Pkd2


High impact information on Pkd2

  • These data suggest that PC1 and PC2 contribute to fluid-flow sensation by the primary cilium in renal epithelium and that they both function in the same mechanotransduction pathway [7].
  • Loss or dysfunction of PC1 or PC2 may therefore lead to PKD owing to the inability of cells to sense mechanical cues that normally regulate tissue morphogenesis [7].
  • Cardiac defects and renal failure in mice with targeted mutations in Pkd2 [8].
  • Pkd2-/- mice die in utero between embryonic day (E) 13.5 and parturition [8].
  • Polycystins are membrane proteins that share significant sequence homology, especially polycystin-2 and -L (50% identity and 71% similarity) [9].

Chemical compound and disease context of Pkd2


Biological context of Pkd2


Anatomical context of Pkd2

  • Pkd2 was ubiquitously expressed at headfold and early somite stages, with higher levels in floorplate and notochord [15].
  • Third, high Pkd2 expression in the kidneys was localized mainly to the tubular epithelium of the cortical region from murine development to adulthood [16].
  • First, in contrast to Pkd1, the neural crest cell-derived tissues displayed a low to undetectable Pkd2 expression at all ages [16].
  • In epithelial cells, changes in apical fluid flow induce cilia-mediated Ca2+ entry via polycystin-2 (PC2), a cation channel [17].
  • Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells [12].

Associations of Pkd2 with chemical compounds


Co-localisations of Pkd2


Regulatory relationships of Pkd2

  • Our data suggest that the localization of polycystin-1 can be regulated via the relative expression level of polycystin-2 in mammalian cells [21].

Other interactions of Pkd2

  • 5. This expression coincides with the onset of cyst formation in Pkd1(del34) -/-, Pkd1(L) -/-, and Pkd2-/- mice, supporting the hypothesis that polycystin-1 and polycystin-2 interact in vivo and that their failure to do so leads to abnormalities in tubule morphology and function [22].
  • Immunofluorescence studies revealed that PC2, normally expressed on and at the base of cilia in orpk cilia(+) cells, was observed throughout the apical membrane in cilia(-) cells [17].
  • Pkd2-/- mice have cysts in the kidney and pancreas and defects in cardiac septation, whereas Pkd1(del34) -/- and Pkd1(L) -/- mice have cysts but no cardiac abnormalities, although vascular fragility was reported in the latter [22].
  • In this study, we sought to characterize the subcellular localization of polycystin-L, a closely related member of polycystin-2, in epithelial renal cell lines [23].
  • In the (cy/+) rat, a model for autosomal-dominant polycystic kidney disease in which cysts originate predominantly from the proximal tubule, polycystin-2 immunoreactivity was lost in some distal tubules [5].

Analytical, diagnostic and therapeutic context of Pkd2


  1. A transcriptional network in polycystic kidney disease. Gresh, L., Fischer, E., Reimann, A., Tanguy, M., Garbay, S., Shao, X., Hiesberger, T., Fiette, L., Igarashi, P., Yaniv, M., Pontoglio, M. EMBO J. (2004) [Pubmed]
  2. Somatic inactivation of Pkd2 results in polycystic kidney disease. Wu, G., D'Agati, V., Cai, Y., Markowitz, G., Park, J.H., Reynolds, D.M., Maeda, Y., Le, T.C., Hou, H., Kucherlapati, R., Edelmann, W., Somlo, S. Cell (1998) [Pubmed]
  3. Calcium dependence of polycystin-2 channel activity is modulated by phosphorylation at Ser812. Cai, Y., Anyatonwu, G., Okuhara, D., Lee, K.B., Yu, Z., Onoe, T., Mei, C.L., Qian, Q., Geng, L., Wiztgall, R., Ehrlich, B.E., Somlo, S. J. Biol. Chem. (2004) [Pubmed]
  4. Haploinsufficiency of Pkd2 is associated with increased tubular cell proliferation and interstitial fibrosis in two murine Pkd2 models. Chang, M.Y., Parker, E., Ibrahim, S., Shortland, J.R., Nahas, M.E., Haylor, J.L., Ong, A.C. Nephrol. Dial. Transplant. (2006) [Pubmed]
  5. Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. Obermüller, N., Cai, Y., Kränzlin, B., Thomson, R.B., Gretz, N., Kriz, W., Somlo, S., Witzgall, R. J. Am. Soc. Nephrol. (2002) [Pubmed]
  6. Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin. Kim, I., Li, C., Liang, D., Chen, X.Z., Coffy, R.J., Ma, J., Zhao, P., Wu, G. J. Biol. Chem. (2008) [Pubmed]
  7. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nauli, S.M., Alenghat, F.J., Luo, Y., Williams, E., Vassilev, P., Li, X., Elia, A.E., Lu, W., Brown, E.M., Quinn, S.J., Ingber, D.E., Zhou, J. Nat. Genet. (2003) [Pubmed]
  8. Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Wu, G., Markowitz, G.S., Li, L., D'Agati, V.D., Factor, S.M., Geng, L., Tibara, S., Tuchman, J., Cai, Y., Park, J.H., van Adelsberg, J., Hou, H., Kucherlapati, R., Edelmann, W., Somlo, S. Nat. Genet. (2000) [Pubmed]
  9. Polycystin-L is a calcium-regulated cation channel permeable to calcium ions. Chen, X.Z., Vassilev, P.M., Basora, N., Peng, J.B., Nomura, H., Segal, Y., Brown, E.M., Reeders, S.T., Hediger, M.A., Zhou, J. Nature (1999) [Pubmed]
  10. CD2-associated protein directly interacts with the actin cytoskeleton. Lehtonen, S., Zhao, F., Lehtonen, E. Am. J. Physiol. Renal Physiol. (2002) [Pubmed]
  11. Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2. Li, X., Luo, Y., Starremans, P.G., McNamara, C.A., Pei, Y., Zhou, J. Nat. Cell Biol. (2005) [Pubmed]
  12. Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells. Qian, Q., Hunter, L.W., Li, M., Marin-Padilla, M., Prakash, Y.S., Somlo, S., Harris, P.C., Torres, V.E., Sieck, G.C. Hum. Mol. Genet. (2003) [Pubmed]
  13. Cloning and characterization of the murine pkd2 promoter. Park, J.H., Li, L., Cai, Y., Hayashi, T., Dong, F., Maeda, Y., Rubin, C., Somlo, S., Wu, G. Genomics (2000) [Pubmed]
  14. Molecular cloning, cDNA sequence analysis, and chromosomal localization of mouse Pkd2. Wu, G., Mochizuki, T., Le, T.C., Cai, Y., Hayashi, T., Reynolds, D.M., Somlo, S. Genomics (1997) [Pubmed]
  15. The ion channel polycystin-2 is required for left-right axis determination in mice. Pennekamp, P., Karcher, C., Fischer, A., Schweickert, A., Skryabin, B., Horst, J., Blum, M., Dworniczak, B. Curr. Biol. (2002) [Pubmed]
  16. Distinct and common developmental expression patterns of the murine Pkd2 and Pkd1 genes. Guillaume, R., Trudel, M. Mech. Dev. (2000) [Pubmed]
  17. Loss of primary cilia results in deregulated and unabated apical calcium entry in ARPKD collecting duct cells. Siroky, B.J., Ferguson, W.B., Fuson, A.L., Xie, Y., Fintha, A., Komlosi, P., Yoder, B.K., Schwiebert, E.M., Guay-Woodford, L.M., Bell, P.D. Am. J. Physiol. Renal Physiol. (2006) [Pubmed]
  18. Polaris and Polycystin-2 in dorsal forerunner cells and Kupffer's vesicle are required for specification of the zebrafish left-right axis. Bisgrove, B.W., Snarr, B.S., Emrazian, A., Yost, H.J. Dev. Biol. (2005) [Pubmed]
  19. Native polycystin 2 functions as a plasma membrane Ca2+-permeable cation channel in renal epithelia. Luo, Y., Vassilev, P.M., Li, X., Kawanabe, Y., Zhou, J. Mol. Cell. Biol. (2003) [Pubmed]
  20. Pkd2+/- vascular smooth muscles develop exaggerated vasocontraction in response to phenylephrine stimulation. Qian, Q., Hunter, L.W., Du, H., Ren, Q., Han, Y., Sieck, G.C. J. Am. Soc. Nephrol. (2007) [Pubmed]
  21. Polycystin-1 distribution is modulated by polycystin-2 expression in mammalian cells. Grimm, D.H., Cai, Y., Chauvet, V., Rajendran, V., Zeltner, R., Geng, L., Avner, E.D., Sweeney, W., Somlo, S., Caplan, M.J. J. Biol. Chem. (2003) [Pubmed]
  22. Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene. Boulter, C., Mulroy, S., Webb, S., Fleming, S., Brindle, K., Sandford, R. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  23. More than colocalizing with polycystin-1, polycystin-L is in the centrosome. Bui-Xuan, E.F., Li, Q., Chen, X.Z., Boucher, C.A., Sandford, R., Zhou, J., Basora, N. Am. J. Physiol. Renal Physiol. (2006) [Pubmed]
  24. In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2. Lehtonen, S., Ora, A., Olkkonen, V.M., Geng, L., Zerial, M., Somlo, S., Lehtonen, E. J. Biol. Chem. (2000) [Pubmed]
  25. Analysis of the polycystins in aortic vascular smooth muscle cells. Qian, Q., Li, M., Cai, Y., Ward, C.J., Somlo, S., Harris, P.C., Torres, V.E. J. Am. Soc. Nephrol. (2003) [Pubmed]
  26. A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1. Hackmann, K., Markoff, A., Qian, F., Bogdanova, N., Germino, G.G., Pennekamp, P., Dworniczak, B., Horst, J., Gerke, V. Hum. Mol. Genet. (2005) [Pubmed]
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