Gene Review:
PKD2 - polycystic kidney disease 2 (autosomal...
Homo sapiens
Synonyms:
APKD2, Autosomal dominant polycystic kidney disease type II protein, PC2, PKD4, Pc-2, ...
Biddolph,
Huang,
Klemm,
Delmas,
Kariuki,
Winterpacht,
Rogovea,
Butler,
Torres,
Paterson,
Harris,
Liang,
Somlo,
Zabel,
Soto,
Spangenberg,
Wu,
Wang,
Pei,
Chen,
Torra,
Zhou,
Johnson,
Enklaar,
Ward,
Gärtner,
Pei,
Lian,
Pelletier,
Prawitt,
Kasenda,
Higgins,
Cai,
Geng,
St George-Hyslop,
Somlo,
Nauli,
Bowker,
Ong,
Cleghorn,
Loghman-Adham,
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Polycystins: polymodal receptor/ion-channel cellular sensors. Delmas, P. Pflugers Arch. (2005)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)