Citations for
1PKD1, PKD2
Polycystin 2: A calcium channel, channel partner, and regulator of calcium homeostasis in ADPKD
Brill AL, Ehrlich BE.
Cell Signal. Feb;66:109490. doi: 10.1016/j.cellsig.2019.109490. Epub 2019 Dec 2. 2020
2PKD2, TRPM3
The TRPP2-dependent channel of renal primary cilia also requires TRPM3
Kleene SJ, Siroky BJ, Landero-Figueroa JA, Dixon BP, Pachciarz NW, Lu L, Kleene NK.
PLoS One. Mar 18;14(3):e0214053. doi: 10.1371/journal.pone.0214053. 2019
3PKD2
External Ca2+ regulates polycystin-2 (TRPP2) cation currents in LLC-PK1 renal epithelial cells
Dai XQ, Perez PL, Soria G, Scarinci N, Smoler M, Morsucci DC, Suzuki K, Cantero MDR, Cantiello HF.
Exp Cell Res. Jan 1;350(1):50-61. doi: 10.1016/j.yexcr.2016.11.004. Epub 2016 Nov 9. 2017
4PKD1, PKD2
The polycystins are modulated by cellular oxygen-sensing pathways and regulate mitochondrial function
Padovano V, Kuo IY, Stavola LK, Aerni HR, Flaherty BJ, Chapin HC, Ma M, Somlo S, Boletta A, Ehrlich BE, Rinehart J, Caplan MJ.
Mol Biol Cell. Jan 15;28(2):261-269. doi: 10.1091/mbc.E16-08-0597. Epub 2016 Nov 23. 2017
5PKD2
Conformational dynamics of Ca2+-dependent responses in the polycystin-2 C-terminal tail
Yang Y, Hodsdon ME, Lolis EJ, Ehrlich BE
Biochem J. Feb 1;473(3):285-96. doi: 10.1042/BJ20151031. Epub 2015 Nov 16 2016
6BBS4, BBS5, PKD2
BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors.
Xu Q, Zhang Y, Wei Q, Huang Y, Li Y, Ling K, Hu J.
Sci Rep. Jul 7;5:11855. doi: 10.1038/srep11855. 2015
7PKD1, PKD2
Calpain-mediated proteolysis of polycystin-1 C-terminus induces JAK2 and ERK signal alterations
Kim H, Kang AY, Ko AR, Park HC, So I, Park JH, Cheong HI, Hwang YH, Ahn C.
Exp Cell Res. Jan 1;320(1):62-8. 2014
8PKD2
Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy
Paavola J, Schliffke S, Rossetti S, Kuo IY, Yuan S, Sun Z, Harris PC, Torres VE, Ehrlich BE.
J Mol Cell Cardiol. May;58:199-208. doi: 10.1016/j.yjmcc.2013.01.015. Epub 2013 Jan 30. 2013
9PKD1, PKD2
Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation
Streets AJ, Wessely O, Peters DJ, Ong AC.
Hum Mol Genet. May 15;22(10):1924-39. doi: 10.1093/hmg/ddt031. Epub 2013 Feb 5. 2013
10FLNA, FLNB, FLNC, PKD2
Structural interaction and functional regulation of polycystin-2 by filamin
Wang Q, Dai XQ, Li Q, Wang Z, Cantero Mdel R, Li S, Shen J, Tu JC, Cantiello H, Chen XZ.
PLoS One. 7(7):e40448. doi: 10.1371/journal.pone.0040448. Epub 2012 Jul 10. 2012
11PKD1, PKD2
Polycystin-1 and polycystin-2 are both required to amplify inositol-trisphosphate-induced Ca2+ release
Mekahli D, Sammels E, Luyten T, Welkenhuyzen K, van den Heuvel LP, Levtchenko EN, Gijsbers R, Bultynck G, Parys JB, De Smedt H, Missiaen L.
Cell Calcium. Jun;51(6):452-8. doi: 10.1016/j.ceca.2012.03.002. Epub 2012 Mar 27. 2012
12PKD2
Polycystin-2 takes different routes to the somatic and ciliary plasma membrane.
Hoffmeister H, Babinger K, Gürster S, Cedzich A, Meese C, Schadendorf K, Osten L, de Vries U, Rascle A, Witzgall R.
J Cell Biol 192(4):631-45. Epub 2011 Feb 14. 2011
13PKD1L1, PKD2
Pkd1l1 complexes with Pkd2 on motile cilia and functions to establish the left-right axis.
Kamura K, Kobayashi D, Uehara Y, Koshida S, Iijima N, Kudo A, Yokoyama T, Takeda H.
Development 138(6):1121-9. Epub 2011 Feb 9. 2011
14PKD1L1, PKD2
Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2.
Field S, Riley KL, Grimes DT, Hilton H, Simon M, Powles-Glover N, Siggers P, Bogani D, Greenfield A, Norris DP.
Development 138(6):1131-42. Epub 2011 Feb 9. 2011
15PKD2
A single amino acid residue constitutes the third dimerization domain essential for the assembly and function of the tetrameric polycystin-2 (TRPP2) channel.
Feng S, Rodat-Despoix L, Delmas P, Ong AC.
J Biol Chem 286(21):18994-9000. Epub 2011 Apr 7. 2011
16ADCY5, HNF1B, PDE4C, PKD2
Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases.
Choi YH, Suzuki A, Hajarnis S, Ma Z, Chapin HC, Caplan MJ, Pontoglio M, Somlo S, Igarashi P.
Proc Natl Acad Sci U S A 108(26):10679-84. Epub 2011 Jun 13. 2011
17AURKA, PKD2
Aurora A kinase activity influences calcium signaling in kidney cells.
Plotnikova OV, Pugacheva EN, Golemis EA.
J Cell Biol 193(6):1021-32. Erratum in: J Cell Biol. 2011 Jul 11;194(1):157. 2011
18PCLD1, PCLD2, PKD1, PKD2, PKHD1, PRKCSH, SEC63
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
Fedeles SV, Tian X, Gallagher AR, Mitobe M, Nishio S, Lee SH, Cai Y, Geng L, Crews CM, Somlo S.
Nat Genet 43(7):639-47. doi: 10.1038/ng.860. 2011
19CAMK2A, PKD2
CaMK-II is a PKD2 target that promotes pronephric kidney development and stabilizes cilia.
Rothschild SC, Francescatto L, Drummond IA, Tombes RM.
Development 138(16):3387-97. Epub 2011 Jul 13. 2011
20PKD2
Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease.
Tan YC, Blumenfeld J, Michaeel A, Donahue S, Balina M, Parker T, Levine D, Rennert H.
Clin Genet 80(3):287-92. doi: 10.1111/j.1399-0004.2010.01555.x. Epub 2010 Oct 18. 2011
21PKD1, PKD2
A conserved signal and GTPase complex are required for the ciliary transport of polycystin-1.
Ward HH, Brown-Glaberman U, Wang J, Morita Y, Alper SL, Bedrick EJ, Gattone VH 2nd, Deretic D, Wandinger-Ness A.
Mol Biol Cell 22(18):3289-305. Epub 2011 Jul 20. 2011
22EXOC5, PKD2
The exocyst protein Sec10 interacts with Polycystin-2 and knockdown causes PKD-phenotypes.
Fogelgren B, Lin SY, Zuo X, Jaffe KM, Park KM, Reichert RJ, Bell PD, Burdine RD, Lipschutz JH.
PLoS Genet 7(4):e1001361. doi: 10.1371/journal.pgen.1001361. Epub 2011 Apr 7. 2011
23NEK1, PKD2, WWTR1
Nek1 and TAZ interact to maintain normal levels of polycystin 2.
Yim H, Sung CK, You J, Tian Y, Benjamin T.
J Am Soc Nephrol 22(5):832-7. doi: 10.1681/ASN.2010090992. Epub 2011 Apr 7. 2011
24PKD2, PKD2L1
Identification of the structural motif responsible for trimeric assembly of the C-terminal regulatory domains of polycystin channels PKD2L1 and PKD2.
Molland KL, Narayanan A, Burgner JW, Yernool DA.
Biochem J. 429(1):171-83. 2010
25PKD, PKD1, PKD2
A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes.
Giamarchi A, Feng S, Rodat-Despoix L, Xu Y, Bubenshchikova E, Newby LJ, Hao J, Gaudioso C, Crest M, Lupas AN, Honoré E, Williamson MP, Obara T, Ong AC, Delmas P.
EMBO J 29(7):1176-91. Epub 2010 Feb 18. 2010
26PKD1, PKD2
Structure of the EF-hand domain of polycystin-2 suggests a mechanism for Ca2+-dependent regulation of polycystin-2 channel activity.
Petri ET, Celic A, Kennedy SD, Ehrlich BE, Boggon TJ, Hodsdon ME.
Proc Natl Acad Sci U S A 107(20):9176-81. Epub 2010 May 3.PMID: 20439752 2010
27PKD2, RP2
The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.
Hurd T, Zhou W, Jenkins P, Liu CJ, Swaroop A, Khanna H, Martens J, Hildebrandt F, Margolis B.
Hum Mol Genet 19(22):4330-44. Epub 2010 Aug 20. 2010
28INADL, PKD2, TAZ
Polycystin-2 activity is controlled by transcriptional coactivator with PDZ binding motif and PALS1-associated tight junction protein.
Duning K, Rosenbusch D, Schlüter MA, Tian Y, Kunzelmann K, Meyer N, Schulze U, Markoff A, Pavenstädt H, Weide T.
J Biol Chem 285(44):33584-8. Epub 2010 Sep 10. 2010
29PKD1, PKD2
Polycystin-1 surface localization is stimulated by polycystin-2 and cleavage at the G protein-coupled receptor proteolytic site.
Chapin HC, Rajendran V, Caplan MJ.
Mol Biol Cell 21(24):4338-48. Epub 2010 Oct 27. 2010
30PKD2
The human polycystin-2 protein represents an integral membrane protein with six membrane-spanning domains and intracellular N- and C-termini.
Hoffmeister H, Gallagher AR, Rascle A, Witzgall R.
Biochem J 433(2):285-94. 2010
31PKD2
TRPP2 channels regulate apoptosis through the Ca2+ concentration in the endoplasmic reticulum.
Wegierski T, Steffl D, Kopp C, Tauber R, Buchholz B, Nitschke R, Kuehn EW, Walz G, Köttgen M.
EMBO J 28(5):490-9. Epub 2009 Jan 15. 2009
32PKD2, TRPC1
The multimeric structure of polycystin-2 (TRPP2): structural-functional correlates of homo- and hetero-multimers with TRPC1.
Zhang P, Luo Y, Chasan B, González-Perrett S, Montalbetti N, Timpanaro GA, Cantero Mdel R, Ramos AJ, Goldmann WH, Zhou J, Cantiello HF.
Hum Mol Genet 18(7):1238-51. Epub 2009 Feb 3. 2009
33PKD1, PKD2
Polycystin-1 C-terminal Cleavage Is Modulated by Polycystin-2 Expression.
Bertuccio CA, Chapin HC, Cai Y, Mistry K, Chauvet V, Somlo S, Caplan MJ.
J Biol Chem 284(31):21011-26. Epub 2009 Jun 2. 2009
34PKD1, PKD2
Structural and molecular basis of the assembly of the TRPP2/PKD1 complex.
Yu Y, Ulbrich MH, Li MH, Buraei Z, Chen XZ, Ong AC, Tong L, Isacoff EY, Yang J.
Proc Natl Acad Sci U S A 106(28):11558-63. Epub 2009 Jun 25. 2009
35PKD1, PKD2
Polycystin-1 and -2 dosage regulates pressure sensing.
Sharif-Naeini R, Folgering JH, Bichet D, Duprat F, Lauritzen I, Arhatte M, Jodar M, Dedman A, Chatelain FC, Schulte U, Retailleau K, Loufrani L, Patel A, Sachs F, Delmas P, Peters DJ, Honoré E.
Cell 139(3):587-96.PMID: 19879844 2009
36PKD2, TRPC3, TRPC7
A pathogenic C terminus-truncated polycystin-2 mutant enhances receptor-activated Ca2+ entry via association with TRPC3 and TRPC7.
Miyagi K, Kiyonaka S, Yamada K, Miki T, Mori E, Kato K, Numata T, Sawaguchi Y, Numaga T, Kimura T, Kanai Y, Kawano M, Wakamori M, Nomura H, Koni I, Yamagishi M, Mori Y.
J Biol Chem 284(49):34400-12. Epub 2009 Oct 7.PMID: 19812035 2009
37ITPR1, PKD, PKD1, PKD2
Polycystin-1 interacts with inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling with implications for polycystic kidney disease.
Li Y, Santoso NG, Yu S, Woodward OM, Qian F, Guggino WB.
J Biol Chem 284(52):36431-41. Epub 2009 Oct 23.PMID: 19854836 2009
38PKD2, TRPC1
Formation of a new receptor-operated channel by heteromeric assembly of TRPP2 and TRPC1 subunits.
Bai CX, Giamarchi A, Rodat-Despoix L, Padilla F, Downs T, Tsiokas L, Delmas P.
EMBO Rep 9(5):472-9. Epub 2008 Mar 7. 2008
39PKD2, HERPUD
Polycystin-2 is regulated by endoplasmic reticulum-associated degradation.
Liang G, Li Q, Tang Y, Kokame K, Kikuchi T, Wu G, Chen XZ.
Hum Mol Genet 17(8):1109-19. Epub 2008 Jan 4. 2008
40PKD2, STX5
Syntaxin 5 regulates the endoplasmic reticulum channel-release properties of polycystin-2.
Geng L, Boehmerle W, Maeda Y, Okuhara DY, Tian X, Yu Z, Choe CU, Anyatonwu GI, Ehrlich BE, Somlo S.
Proc Natl Acad Sci U S A 105(41):15920-5. Epub 2008 Oct 3. 2008
41PKD2
Identification and functional characterization of an N-terminal oligomerization domain for polycystin-2.
Feng S, Okenka GM, Bai CX, Streets AJ, Newby LJ, DeChant BT, Tsiokas L, Obara T, Ong AC.
J Biol Chem 283(42):28471-9. Epub 2008 Aug 13. 2008
42EIF2AK3, PKD2
Polycystin-2 down-regulates cell proliferation via promoting PERK-dependent phosphorylation of eIF2alpha.
Liang G, Yang J, Wang Z, Li Q, Tang Y, Chen XZ.
Hum Mol Genet 17(20):3254-62. Epub 2008 Jul 29. 2008
43ARPKD, PKD1, PKD2, PKHD1
Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin.
Kim I, Li C, Liang D, Chen XZ, Coffy RJ, Ma J, Zhao P, Wu G.
J Biol Chem 283(46):31559-66. Epub 2008 Sep 9. 2008
44PKD, PKD1, PKD2
Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease.
Dedoussis GV, Luo Y, Starremans P, Rossetti S, Ramos AJ, Cantiello HF, Katsareli E, Ziroyannis P, Lamnissou K, Harris PC, Zhou J.
Eur J Clin Invest 38(3):180-90.PMID: 18257781 2008
45PKD2
The subcellular localization of TRPP2 modulates its function.
Fu X, Wang Y, Schetle N, Gao H, Pütz M, von Gersdorff G, Walz G, Kramer-Zucker AG.
J Am Soc Nephrol 19(7):1342-51. Epub 2008 Apr 16.PMID: 18417723 2008
46ARPKD, PKD, PKD1, PKD2, PKTS, XYLT2
Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis.
Condac E, Silasi-Mansat R, Kosanke S, Schoeb T, Towner R, Lupu F, Cummings RD, Hinsdale ME.
Proc Natl Acad Sci U S A 104(22):9416-21. Epub 2007 May 21. 2007
47PKD, PKD1, PKD2, PKHD1
Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.
Garcia-Gonzalez MA, Menezes LF, Piontek KB, Kaimori J, Huso DL, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG.
Hum Mol Genet 16(16):1940-50. Epub 2007 Jun 16. 2007
48HAVCR1, PKD2
Ciliary calcium signaling is modulated by kidney injury molecule-1 (Kim1).
Kotsis F, Nitschke R, Boehlke C, Bashkurov M, Walz G, Kuehn EW.
Pflugers Arch 453(6):819-29. Epub 2007 Jan 5. 2007
49HAVCR1, PKD2
Kidney injury molecule 1 (Kim1) is a novel ciliary molecule and interactor of polycystin 2.
Kuehn EW, Hirt MN, John AK, Muehlenhardt P, Boehlke C, Pütz M, Kramer-Zucker AG, Bashkurov M, van de Weyer PS, Kotsis F, Walz G.
Biochem Biophys Res Commun 364(4):861-6. Epub 2007 Oct 26. 2007
50PKD2
Regulation of ryanodine receptor-dependent calcium signaling by polycystin-2.
Anyatonwu GI, Estrada M, Tian X, Somlo S, Ehrlich BE.
Proc Natl Acad Sci U S A. 104(15):6454-9. 2007
51PKD2
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 MK, Chen XZ, Cantiello HF.
J Biol Chem 281(49):37566-75. Epub 2006 Sep 1. 2006
52PKD2
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 AJ, Moon DJ, Kane ME, Obara T, Ong AC.
Hum Mol Genet 15(9):1465-73. Epub 2006 Mar 21. 2006
53PKD2
PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.
Chung W, Kim H, Hwang YH, Kim SY, Ko AR, Ro H, Lee KB, Lee JS, Oh KH, Ahn C.
Clin Genet 70(6):502-8. 2006
54PKD2
Polycystin-2 regulates proliferation and branching morphogenesis in kidney epithelial cells.
Grimm DH, Karihaloo A, Cai Y, Somlo S, Cantley LG, Caplan MJ.
J Biol Chem 281(1):137-44. Epub 2005 Nov 8. 2006
55PKD2
Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif.
Geng L, Okuhara D, Yu Z, Tian X, Cai Y, Shibazaki S, Somlo S.
J Cell Sci 119(Pt 7):1383-95. Epub 2006 Mar 14. 2006
56KIF3B, PKD2, PKHD1
Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin.
Wu Y, Dai XQ, Li Q, Chen CX, Mai W, Hussain Z, Long W, Montalbetti N, Li G, Glynne R, Wang S, Cantiello HF, Wu G, Chen XZ.
Hum Mol Genet 15(22):3280-92. Epub 2006 Sep 28. 2006
57PKD, PKD1, PKD2
Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions.
Lantinga-van Leeuwen IS, Leonhard WN, Dauwerse H, Baelde HJ, van Oost BA, Breuning MH, Peters DJ.
Eur J Hum Genet 13(5):649-59. 2005
58PKD1, PKD2, CBY1
Alpha-actinin associates with polycystin-2 and regulates its channel activity.
Li Q, Montalbetti N, Shen PY, Dai XQ, Cheeseman CI, Karpinski E, Wu G, Cantiello HF, Chen XZ.
Hum Mol Genet 14(12):1587-603. Epub 2005 Apr 20. 2005
59PKD2
A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1.
Hackmann K, Markoff A, Qian F, Bogdanova N, Germino GG, Pennekamp P, Dworniczak B, Horst J, Gerke V.
Hum Mol Genet 14(21):3249-62. Epub 2005 Sep 28. 2005
60PKD2
PKD2 functions as an epidermal growth factor-activated plasma membrane channel.
Ma R, Li WP, Rundle D, Kong J, Akbarali HI, Tsiokas L.
Mol Cell Biol. 25(18):8285-98. 2005
61ITPR1, PKD2
Polycystin 2 interacts with type I inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling.
Li Y, Wright JM, Qian F, Germino GG, Guggino WB.
J Biol Chem 280(50):41298-306. Epub 2005 Oct 13. 2005
62MCOLN1, MCOLN2, MCOLN3, PKD2
Cellular and molecular function of mucolipins (TRPML) and polycystin 2 (TRPP2).
Qian F, Noben-Trauth K.
Pflugers Arch 451(1):277-85. Epub 2005 Jun 22. Review. 2005
63PKD2
Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation.
Köttgen M, Benzing T, Simmen T, Tauber R, Buchholz B, Feliciangeli S, Huber TB, Schermer B, Kramer-Zucker A, Höpker K, Simmen KC, Tschucke CC, Sandford R, Kim E, Thomas G, Walz G.
EMBO J. 24(4):705-16. 2005
64ACTN2, PKD2
Alpha-actinin associates with polycystin-2 and regulates its channel activity.
Li Q, Montalbetti N, Shen PY, Dai XQ, Cheeseman CI, Karpinski E, Wu G, Cantiello HF, Chen XZ.
Hum Mol Genet 14(12):1587-603. Epub 2005 Apr 20. 2005
65PKD, PKD1, PKD2
Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).
Boucher C, Sandford R.
Eur J Hum Genet 12(5):347-54. 2004
66CBY1, PKD2, GOLGA2
PIGEA-14, a novel coiled-coil protein affecting the intracellular distribution of polycystin-2.
Hidaka S, Konecke V, Osten L, Witzgall R.
J Biol Chem 279(33):35009-16. Epub 2004 Jun 12. 2004
67IFT20, PKD2, PCNT
Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly.
Jurczyk A, Gromley A, Redick S, San Agustin J, Witman G, Pazour GJ, Peters DJ, Doxsey S.
J Cell Biol 166(5):637-43. 2004
68PKD1, PKD2
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, Elia AE, Lu W, Brown EM, Quinn SJ, Ingber DE, Zhou J.
Nat Genet 33(2):129-37. 2003
69PKD, PKD1, PKD2
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.
Rossetti S, Chauveau D, Kubly V, Slezak JM, Saggar-Malik AK, Pei Y, Ong AC, Stewart F, Watson ML, Bergstralh EJ, Winearls CG, Torres VE, Harris PC.
Lancet 361(9376):2196-201. 2003
70PKD2
Polycystin-2 associates with tropomyosin-1, an actin microfilament component.
Li Q, Dai Y, Guo L, Liu Y, Hao C, Wu G, Basora N, Michalak M, Chen XZ.
J Mol Biol. 325(5):949-62. 2003
71PKD2
Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells.
Qian Q, Hunter LW, Li M, Marin-Padilla M, Prakash YS, Somlo S, Harris PC, Torres VE, Sieck GC.
Hum Mol Genet. 12(15):1875-80. 2003
72PKD2
Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells.
Scheffers MS, Le H, van der Bent P, Leonhard W, Prins F, Spruit L, Breuning MH, de Heer E, Peters DJ.
Hum Mol Genet 11(1):59-67. 2002
73PKD1, PKD2
PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2.
Bhunia AK, Piontek K, Boletta A, Liu L, Qian F, Xu PN, Germino FJ, Germino GG.
Cell 109(2):157-68. 2002
74PKD1, PKD2
Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex.
Newby LJ, Streets AJ, Zhao Y, Harris PC, Ward CJ, Ong AC.
J Biol Chem 277(23):20763-73. Epub 2002 Mar 18. 2002
75PKD1, PKD2
Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.
Wu G, Tian X, Nishimura S, Markowitz GS, D'Agati V, Park JH, Yao L, Li L, Geng L, Zhao H, Edelmann W, Somlo S.
Hum Mol Genet. 11(16):1845-54. 2002
76PKD2
Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel.
Gonzalez-Perret S, Kim K, Ibarra C, Damiano AE, Zotta E, Batelli M, Harris PC, Reisin IL, Arnaout MA, Cantiello HF.
Proc Natl Acad Sci U S A 98(3):1182-7. 2001
77PKD2
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Deltas CC.
Hum Mutat 18(1):13-24. 2001
78PKD1, PKD2
Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.
Watnick T, He N, Wang K, Liang Y, Parfrey P, Hefferton D, St George-Hyslop P, Germino G, Pei Y.
Nat Genet 25(2):143-4. 2000
79PKD2
Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene.
Foggensteiner L, Bevan AP, Thomas R, Coleman N, Boulter C, Bradley J, Ibraghimov-Beskrovnaya O, Klinger K, Sandford R.
J Am Soc Nephrol 11(5):814-27. 2000
80PKD1, PKD2
Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents.
Hanaoka K, Qian F, Boletta A, Bhunia AK, Piontek K, Tsiokas L, Sukhatme VP, Guggino WB, Germino GG.
Nature 408(6815):990-4. 2000
81CD2AP, PKD2
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 VM, Geng L, Zerial M, Somlo S, Lehtonen E.
J Biol Chem. 275(42):32888-93. 2000
82PKD2
The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton.
Gallagher AR, Cedzich A, Gretz N, Somlo S, Witzgall R.
Proc Natl Acad Sci U S A. 97(8):4017-22. 2000
83PKD2
Cardiac defects and renal failure in mice with targeted mutations in Pkd2.
Wu G, Markowitz GS, Li L, D'Agati VD, Factor SM, Geng L, Tibara S, Tuchman J, Cai Y, Park JH, van Adelsberg J, Hou H Jr, Kucherlapati R, Edelmann W, Somlo S.
Nat Genet. 24(1):75-8. 2000
84PKD2
Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
Koptides M, et al.
Hum Mol Genet 8 : 509-513. 1999
85PKD2, TRPC1
Specific association of the gene product of PKD2 with the TRPC1 channel.
Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Sukhatme VP
Proc Natl Acad Sci U S A 96(7):3934-9. 1999
86PKD2
Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
Torra R, et al.
Kidney Int 56(1):28-33. 1999
87PKD2
Somatic PKD2 mutations in individual kidney and liver cysts support a two-hit model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.
Pei Y, et al.
J Am Soc Nephrol 10(7):1524-9 1999
88PKD2
Polymorphisms in the human autosomal dominant polycystic kidney disease 2 (PKD2) gene.
Kim UK, et al.
Mol Cell Probes 13(3):247-50 1999
89PKD2
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.
Torra R, et al.
Am J Hum Genet 65(2):345-52 1999
90PKD, PKD1, PKD2
Somatic Mutation as Mechanism for Cyst Formation in Autosomal Dominant Polycystic Kidney Disease.
Qian F, et al.
Mol Genet Metab 68(2):237-242. No abstract available 1999
91PKD1, PKD2
Autosomal dominant polycystic kidney disease: clues to pathogenesis.
Harris PC.
Hum Mol Genet 8(10 REVIEW ISSUE):1861-6 1999
92PKD, PKD1, PKD2, PKD2L1, PKD2L2, PKDREJ
Genes homologous to the autosomal dominant polycystic kidney disease genes.
Veldhuisen B, Spruit L, Dauwerse HG, Breuning MH, Peters DJ.
Eur J Hum Genet 7(8):860-72 1999
93PKD2
Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.
Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino GG, Peters DJ, Somlo S.
J Am Soc Nephrol 10(11):2342-51 1999
94PKD2
Identification and characterization of polycystin-2, the PKD2 gene product.
Cai Y, Maeda Y, Cedzich A, Torres VE, Wu G, Hayashi T, Mochizuki T, Park JH, Witzgall R, Somlo S.
J Biol Chem 274(40):28557-65. 1999
95PKD2
A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene.
Pei Y, et al.
Kidney Int 53 : 1127-1132. 1998
96PKD2
A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.
Pei Y, et al.
J Am Soc Nephrol 9 : 1853-1860. 1998
97PKD2
A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2).
Xenophontos S, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Deltas CC.
Hum Mol Genet 6(6):949-52. 1997
98PKD1, PKD2
PKD1 interacts with PKD2 through a probable coiled-coil domain.
Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG.
Nat Genet 16(2):179-83. 1997
99PKD1, PKD2
Homo-and heterodimeric interactions between the gene products of PKD1 and PKD2.
Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G.
Proc Natl Acad Sci U S A 94(13):6965-70. 1997
100PKD2
Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2).
Hayashi T, Mochizuki T, Reynolds DM, Wu G, Cai Y, Somlo S.
Genomics 44(1):131-6. 1997
101PKD2
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Norby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJ.
Am J Hum Genet 61(3):547-55. 1997
102PKD2
Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.
Viribay M, Hayashi T, Telleria D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, Moreno F, Harris PC, Somlo S, San Millan JL.
Hum Genet 101(2):229-34. 1997
103PKD2
Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2.
Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G.
Proc Natl Acad Sci U S A. 94(13):6965-70. 1997
104PKD2
Molecular cloning, cDNA sequence analysis, and chromosomal localization of mouse Pkd2.
Wu G, Mochizuki T, Le TC, Cai Y, Hayashi T, Reynolds DM, Somlo S.
Genomics. 45(1):220-3. 1997
105PKD2
A gene similar to PKD1 to chromosome 4q22 : a candidate gene for PKD2.
Schneider MC, et al.
Genomics 38 : 1-4. 1996
106PKD2
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
Mochizuki T, et al.
Science 272 : 1339-1342. 1996
107PKD1, PKD2
Evidence for a third genetic locus for autosomal dominant polycystic kidney disease.
Daoust MC, et al.
Genomics 25 : 733-736. 1995
108D4S1544, D4S2458, PKD2
Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q.
Viribay M, et al.
Hum Genet 95 : 601-602. 1995
109PKD1, PKD2
DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2 : evaluation of clinical heterogeneity between both forms of the disease.
Coto E, et al.
J Med Genet 32 : 442-445. 1995
110PKD2
A family with autosomal dominant polycystic kidney disease linked to 4q21-23.
Jeffery S, et al.
J Med Genet 32 : 493-494. 1995
111PKD2
Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2.
San Millan JL, et al.
Am J Hum Genet 56 : 248-253. 1995
112PKD2, ARPKD
Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4.
Zerres K, et al.
Hum Genet 93 : 697-698. 1994
113PKD2
Autosomal dominant polycystic Kidney disease : localization of the second gene to chromosome 4q13-q23.
Kimberling WJ, et al.
Genomics 18 : 467-472. 1993
114PKD2
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.
Peters DJM, et al.
Nat Genet 5 : 359-362. 1993
115PKD1, PKD2
Linkage heterogeneity of autosomal dominant polycystic kidney disease.
Kimberling WJ, et al.
N Engl J Med 319 : 913-918. 1988