The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

PKD2  -  polycystic kidney disease 2 (autosomal...

Homo sapiens

Synonyms: APKD2, Autosomal dominant polycystic kidney disease type II protein, PC2, PKD4, Pc-2, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of PKD2


High impact information on PKD2


Chemical compound and disease context of PKD2


Biological context of PKD2


Anatomical context of PKD2

  • Systematic scanning of PKD2/Pkd2 cDNAs obtained through RT-PCR from murine tissues and human cell lines revealed alternative splice forms that were sequenced and checked for translation [12].
  • Using antisera raised to the human PKD2 protein, polycystin-2, we describe for the first time its distribution in human fetal tissues, as well as its expression in adult kidney and polycystic PKD2 tissues [14].
  • PKD1 and PKD2 are thought to function together as part of a multiprotein receptor/ion-channel complex or independently and may be involved in transducing Ca(2+)-dependent mechanosensitive signals in response to cilia bending in renal epithelial cells and endodermally derived cells [16].
  • Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells [17].
  • In addition, the in vivo interaction between endogenous PC2 and alpha-actinins was demonstrated by co-immunoprecipitation in human embryonic kidney 293 and Madin-Darby canine kidney (MDCK) cells, rat kidney and heart tissues and human syncytiotrophoblast (hST) apical membrane vesicles [18].

Associations of PKD2 with chemical compounds

  • Thereafter, PKD2 is diffusely expressed at all stages of nephron development, whereas high PKD1 expression first appears in differentiated proximal tubules [15].
  • This mutation occurred in the polyadenosine tract (nt2152-2159) of exon 11 and is predicted to result in a frameshift with premature translation termination of the PKD2 product, polycystin 22, immediately after codon 723 [9].
  • The plasma membrane staining disappeared following extraction with a buffer containing Triton X-100, whereas signals for polycystin-1 and E-cadherin remained visible, suggesting that polycystin-2 is neither tightly bound to the Triton X-100 insoluble cytoskeleton, nor to these proteins [17].
  • The PC2-alpha-actinin association was confirmed by in vitro glutathione S-transferase pull-down and dot blot overlay assays [18].
  • Weak immunoreactivity for polycystin-2, which was markedly enhanced by protease digestion, was detected in formaldehyde-fixed normal human elastic and intracranial arteries [3].

Physical interactions of PKD2


Co-localisations of PKD2

  • In cultured renal cells, the PKHD1 gene product colocalized with polycystin-2, the gene product of autosomal dominant polycystic disease type 2, at the basal bodies of primary cilia [22].
  • In addition to the expected mitochondria localization, ATP-2 and other ATP synthase components colocalize with LOV-1 and PKD-2 in cilia [23].

Regulatory relationships of PKD2


Other interactions of PKD2

  • PKD1 is thought to encode a membrane protein, polycystin-1, involved in cell-cell or cell-matrix interactions, whereas the PKD2 gene product, polycystin-2, is thought to be a channel protein [7].
  • The C-terminal domain is sufficient but not necessary for the PKD2-TRPC1 association [19].
  • The third gene, PKDREJ, encodes a putative 2253 amino acid protein and shows about 35% similarity to both polycystin-1 and polycystin-2 [26].
  • We show that PKD2 can directly associate with TRPC1 but not TRPC3 in transfected cells and in vitro [19].
  • Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin [27].
  • These results have significant implications for our understanding of PC2 function and disease pathogenesis in ADPKD and provide a new strategy for studying PC2 function [28].

Analytical, diagnostic and therapeutic context of PKD2


  1. The polycystin-1 C-terminal fragment triggers branching morphogenesis and migration of tubular kidney epithelial cells. Nickel, C., Benzing, T., Sellin, L., Gerke, P., Karihaloo, A., Liu, Z.X., Cantley, L.G., Walz, G. J. Clin. Invest. (2002) [Pubmed]
  2. A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. Pei, Y., He, N., Wang, K., Kasenda, M., Paterson, A.D., Chan, G., Liang, Y., Roscoe, J., Brissenden, J., Hefferton, D., Parfrey, P., Somlo, S., St George-Hyslop, P. J. Am. Soc. Nephrol. (1998) [Pubmed]
  3. Vascular expression of polycystin-2. Torres, V.E., Cai, Y., Chen, X., Wu, G.Q., Geng, L., Cleghorn, K.A., Johnson, C.M., Somlo, S. J. Am. Soc. Nephrol. (2001) [Pubmed]
  4. A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2. Schneider, M.C., Rodriguez, A.M., Nomura, H., Zhou, J., Morton, C.C., Reeders, S.T., Weremowicz, S. Genomics (1996) [Pubmed]
  5. 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]
  6. 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]
  7. Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. Hanaoka, K., Qian, F., Boletta, A., Bhunia, A.K., Piontek, K., Tsiokas, L., Sukhatme, V.P., Guggino, W.B., Germino, G.G. Nature (2000) [Pubmed]
  8. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Mochizuki, T., Wu, G., Hayashi, T., Xenophontos, S.L., Veldhuisen, B., Saris, J.J., Reynolds, D.M., Cai, Y., Gabow, P.A., Pierides, A., Kimberling, W.J., Breuning, M.H., Deltas, C.C., Peters, D.J., Somlo, S. Science (1996) [Pubmed]
  9. A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. Pei, Y., Wang, K., Kasenda, M., Paterson, A.D., Liang, Y., Huang, E., Lian, J., Rogovea, E., Somlo, S., St George-Hyslop, P. Kidney Int. (1998) [Pubmed]
  10. Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression. Prawitt, D., Enklaar, T., Klemm, G., Gärtner, B., Spangenberg, C., Winterpacht, A., Higgins, M., Pelletier, J., Zabel, B. Hum. Mol. Genet. (2000) [Pubmed]
  11. Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells. Aguiari, G., Manzati, E., Penolazzi, L., Micheletti, F., Augello, G., Vitali, E.D., Cappelli, G., Cai, Y., Reynolds, D., Somlo, S., Piva, R., del Senno, L. Am. J. Kidney Dis. (1999) [Pubmed]
  12. 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]
  13. PKD2 interacts and co-localizes with mDia1 to mitotic spindles of dividing cells: role of mDia1 IN PKD2 localization to mitotic spindles. Rundle, D.R., Gorbsky, G., Tsiokas, L. J. Biol. Chem. (2004) [Pubmed]
  14. Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue. Ong, A.C., Ward, C.J., Butler, R.J., Biddolph, S., Bowker, C., Torra, R., Pei, Y., Harris, P.C. Am. J. Pathol. (1999) [Pubmed]
  15. Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. Chauvet, V., Qian, F., Boute, N., Cai, Y., Phakdeekitacharoen, B., Onuchic, L.F., Attié-Bitach, T., Guicharnaud, L., Devuyst, O., Germino, G.G., Gubler, M.C. Am. J. Pathol. (2002) [Pubmed]
  16. Polycystins: polymodal receptor/ion-channel cellular sensors. Delmas, P. Pflugers Arch. (2005) [Pubmed]
  17. Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells. Scheffers, M.S., Le, H., van der Bent, P., Leonhard, W., Prins, F., Spruit, L., Breuning, M.H., de Heer, E., Peters, D.J. Hum. Mol. Genet. (2002) [Pubmed]
  18. Alpha-actinin associates with polycystin-2 and regulates its channel activity. Li, Q., Montalbetti, N., Shen, P.Y., Dai, X.Q., Cheeseman, C.I., Karpinski, E., Wu, G., Cantiello, H.F., Chen, X.Z. Hum. Mol. Genet. (2005) [Pubmed]
  19. Specific association of the gene product of PKD2 with the TRPC1 channel. Tsiokas, L., Arnould, T., Zhu, C., Kim, E., Walz, G., Sukhatme, V.P. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  20. Polycystin-2 Cation Channel Function Is under the Control of Microtubular Structures in Primary Cilia of Renal Epithelial Cells. Li, Q., Montalbetti, N., Wu, Y., Ramos, A., Raychowdhury, M.K., Chen, X.Z., Cantiello, H.F. J. Biol. Chem. (2006) [Pubmed]
  21. Polycystin-2 immunolocalization and function in zebrafish. Obara, T., Mangos, S., Liu, Y., Zhao, J., Wiessner, S., Kramer-Zucker, A.G., Olale, F., Schier, A.F., Drummond, I.A. J. Am. Soc. Nephrol. (2006) [Pubmed]
  22. PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Zhang, M.Z., Mai, W., Li, C., Cho, S.Y., Hao, C., Moeckel, G., Zhao, R., Kim, I., Wang, J., Xiong, H., Wang, H., Sato, Y., Wu, Y., Nakanuma, Y., Lilova, M., Pei, Y., Harris, R.C., Li, S., Coffey, R.J., Sun, L., Wu, D., Chen, X.Z., Breyer, M.D., Zhao, Z.J., McKanna, J.A., Wu, G. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  23. ATP-2 interacts with the PLAT domain of LOV-1 and is involved in Caenorhabditis elegans polycystin signaling. Hu, J., Barr, M.M. Mol. Biol. Cell (2005) [Pubmed]
  24. Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese. Zhang, S., Mei, C., Zhang, D., Dai, B., Tang, B., Sun, T., Zhao, H., Zhou, Y., Li, L., Wu, Y., Wang, W., Shen, X., Song, J. Nephron Exp. Nephrol. (2005) [Pubmed]
  25. Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin-2 in vivo and in vitro. Streets, A.J., Moon, D.J., Kane, M.E., Obara, T., Ong, A.C. Hum. Mol. Genet. (2006) [Pubmed]
  26. Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). Veldhuisen, B., Spruit, L., Dauwerse, H.G., Breuning, M.H., Peters, D.J. Eur. J. Hum. Genet. (1999) [Pubmed]
  27. Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin. Wu, Y., Dai, X.Q., Li, Q., Chen, C.X., Mai, W., Hussain, Z., Long, W., Montalbetti, N., Li, G., Glynne, R., Wang, S., Cantiello, H.F., Wu, G., Chen, X.Z. Hum. Mol. Genet. (2006) [Pubmed]
  28. Identification and functional characterization of an N-terminal oligomerization domain for polycystin-2. Feng, S., Okenka, G.M., Bai, C.X., Streets, A.J., Newby, L.J., DeChant, B.T., Tsiokas, L., Obara, T., Ong, A.C. J. Biol. Chem. (2008) [Pubmed]
  29. A novel frameshift mutation (2436insT) produces an immediate stop codon in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. Iglesias, D.M., Telleria, D., Viribay, M., Herrera, M., Bernath, V.A., Kornblihtt, A.R., Martin, R.S., Millán, J.L. Nephrol. Dial. Transplant. (2000) [Pubmed]
  30. Type identification of autosomal dominant polycystic kidney disease by analysis of fluorescent short tandem repeat markers. Lin, W.D., Wu, J.Y., Tsai, F.J., Gau, M.T., Lee, C.C. J. Formos. Med. Assoc. (2002) [Pubmed]
  31. Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene. Foggensteiner, L., Bevan, A.P., Thomas, R., Coleman, N., Boulter, C., Bradley, J., Ibraghimov-Beskrovnaya, O., Klinger, K., Sandford, R. J. Am. Soc. Nephrol. (2000) [Pubmed]
  32. Immortalized epithelial cells from human autosomal dominant polycystic kidney cysts. Loghman-Adham, M., Nauli, S.M., Soto, C.E., Kariuki, B., Zhou, J. Am. J. Physiol. Renal Physiol. (2003) [Pubmed]
WikiGenes - Universities