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Identification
HMDB Protein ID HMDBP07942
Secondary Accession Numbers
  • 13653
Name Polycystin-2
Synonyms
  1. Autosomal dominant polycystic kidney disease type II protein
  2. Polycystic kidney disease 2 protein
  3. Polycystwin
  4. R48321
Gene Name PKD2
Protein Type Unknown
Biological Properties
General Function Involved in calcium ion binding
Specific Function Functions as a calcium permeable cation channel. PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
Function
ion binding
cation binding
metal ion binding
binding
calcium ion binding
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein (Potential)
  3. Endoplasmic reticulum
Gene Properties
Chromosome Location Chromosome:4
Locus 4q21-q23
SNPs PKD2
Gene Sequence
>2907 bp
ATGGTGAACTCCAGTCGCGTGCAGCCTCAGCAGCCCGGGGACGCCAAGCGGCCGCCCGCG
CCCCGCGCGCCGGACCCGGGCCGGCTGATGGCTGGCTGCGCGGCCGTGGGCGCCAGCCTC
GCCGCCCCGGGCCGCCTCTGCGAGCAGCGGGGCCTGGAGATCGAGATGCAGCGCATCCGG
CAGGCGGCCGCGCGGGACCCCCCGGCCGGAGCCGCGGCCTCCCCTTCTCCTCCGCTCTCG
TCGTGCTCCCGGCAGGCGTGGAGCCGCGATAACCCCGGCTTCGAGGCCGAGGAGGAGGAG
GAGGAGGTGGAAGGGGAAGAAGGCGGAATGGTGGTGGAGATGGACGTAGAGTGGCGCCCG
GGCAGCCGGAGGTCGGCCGCCTCCTCGGCCGTGAGCTCCGTGGGCGCGCGGAGCCGGGGG
CTTGGGGGCTACCACGGCGCGGGCCACCCGAGCGGGAGGCGGCGCCGGCGAGAGGACCAG
GGCCCGCCGTGCCCCAGCCCAGTCGGCGGCGGGGACCCGCTGCATCGCCACCTCCCCCTG
GAAGGGCAGCCGCCCCGAGTGGCCTGGGCGGAGAGGCTGGTTCGCGGGCTGCGAGGTCTC
TGGGGAACAAGACTCATGGAGGAAAGCAGCACTAACCGAGAGAAATACCTTAAAAGTGTT
TTACGGGAACTGGTCACATACCTCCTTTTTCTCATAGTCTTGTGCATCTTGACCTACGGC
ATGATGAGCTCCAATGTGTACTACTACACCCGGATGATGTCACAGCTCTTCCTAGACACC
CCCGTGTCCAAAACGGAGAAAACTAACTTTAAAACTCTGTCTTCCATGGAAGACTTCTGG
AAGTTCACAGAAGGCTCCTTATTGGATGGGCTGTACTGGAAGATGCAGCCCAGCAACCAG
ACTGAAGCTGACAACCGAAGTTTCATCTTCTATGAGAACCTGCTGTTAGGGGTTCCACGA
ATACGGCAACTCCGAGTCAGAAATGGATCCTGCTCTATCCCCCAGGACTTGAGAGATGAA
ATTAAAGAGTGCTATGATGTCTACTCTGTCAGTAGTGAAGATAGGGCTCCCTTTGGGCCC
CGAAATGGAACCGCTTGGATCTACACAAGTGAAAAAGACTTGAATGGTAGTAGCCACTGG
GGAATCATTGCAACTTATAGTGGAGCTGGCTATTATCTGGATTTGTCAAGAACAAGAGAG
GAAACAGCTGCACAAGTTGCTAGCCTCAAGAAAAATGTCTGGCTGGACCGAGGAACCAGG
GCAACTTTTATTGACTTCTCAGTGTACAACGCCAACATTAACCTGTTCTGTGTGGTCAGG
TTATTGGTTGAATTCCCAGCAACAGGTGGTGTGATTCCATCTTGGCAATTTCAGCCTTTA
AAGCTGATCCGATATGTCACAACTTTTGATTTCTTCCTGGCAGCCTGTGAGATTATCTTT
TGTTTCTTTATCTTTTACTATGTGGTGGAAGAGATATTGGAAATTCGCATTCACAAACTA
CACTATTTCAGGAGTTTCTGGAATTGTCTGGATGTTGTGATCGTTGTGCTGTCAGTGGTA
GCTATAGGAATTAACATATACAGAACATCAAATGTGGAGGTGCTACTACAGTTTCTGGAA
GATCAAAATACTTTCCCCAACTTTGAGCATCTGGCATATTGGCAGATACAGTTCAACAAT
ATAGCTGCTGTCACAGTATTTTTTGTCTGGATTAAGCTCTTCAAATTCATCAATTTTAAC
AGGACCATGAGCCAGCTCTCGACAACCATGTCTCGATGTGCCAAAGACCTGTTTGGCTTT
GCTATTATGTTCTTCATTATTTTCCTAGCGTATGCTCAGTTGGCATACCTTGTCTTTGGC
ACTCAGGTCGATGACTTCAGTACTTTCCAAGAGTGTATCTTCACTCAATTCCGTATCATT
TTGGGCGATATCAACTTTGCAGAGATTGAGGAAGCTAATCGAGTTTTGGGACCAATTTAT
TTCACTACATTTGTGTTCTTTATGTTCTTCATTCTTTTGAATATGTTTTTGGCTATCATC
AATGATACTTACTCTGAAGTGAAATCTGACTTGGCACAGCAGAAAGCTGAAATGGAACTC
TCAGATCTTATCAGAAAGGGCTACCATAAAGCTTTGGTCAAACTAAAACTGAAAAAAAAT
ACCGTGGATGACATTTCAGAGAGTCTGCGGCAAGGAGGAGGCAAGTTAAACTTTGACGAA
CTTCGACAAGATCTCAAAGGGAAGGGCCATACTGATGCAGAGATTGAGGCAATATTCACA
AAGTACGACCAAGATGGAGACCAAGAACTGACCGAACATGAACATCAGCAGATGAGAGAC
GACTTGGAGAAAGAGAGGGAGGACCTGGATTTGGATCACAGTTCTTTACCACGTCCCATG
AGCAGCCGAAGTTTCCCTCGAAGCCTGGATGACTCTGAGGAGGATGACGATGAAGATAGC
GGACATAGCTCCAGAAGGAGGGGAAGCATTTCTAGTGGCGTTTCTTACGAAGAGTTTCAA
GTCCTGGTGAGACGAGTGGACCGGATGGAGCATTCCATCGGCAGCATAGTGTCCAAGATT
GACGCCGTGATCGTGAAGCTAGAGATTATGGAGCGAGCCAAACTGAAGAGGAGGGAGGTG
CTGGGAAGGCTGTTGGATGGGGTGGCCGAGGATGAAAGGCTGGGTCGTGACAGTGAAATC
CATAGGGAACAGATGGAACGGCTAGTACGTGAAGAGTTGGAACGCTGGGAATCCGATGAT
GCAGCTTCCCAGATCAGTCATGGTTTAGGCACGCCAGTGGGACTAAATGGTCAACCTCGC
CCCAGAAGCTCCCGCCCATCTTCCTCCCAATCTACAGAAGGCATGGAAGGTGCAGGTGGA
AATGGGAGTTCTAATGTCCACGTATGA
Protein Properties
Number of Residues 968
Molecular Weight 109690.2
Theoretical pI 5.41
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 224-244
  • 469-489
  • 506-526
  • 551-571
  • 599-619
  • 659-679
Protein Sequence
>Polycystin-2
MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPGGLCEQRGLEIEMQRIR
QAAARDPPAGAAASPSPPLSSCSRQAWSRDNPGFEAEEEEEEVEGEEGGMVVEMDVEWRP
GSRRSAASSAVSSVGARSRGLGGYHGAGHPSGRRRRREDQGPPCPSPVGGGDPLHRHLPL
EGQPPRVAWAERLVRGLRGLWGTRLMEESSTNREKYLKSVLRELVTYLLFLIVLCILTYG
MMSSNVYYYTRMMSQLFLDTPVSKTEKTNFKTLSSMEDFWKFTEGSLLDGLYWKMQPSNQ
TEADNRSFIFYENLLLGVPRIRQLRVRNGSCSIPQDLRDEIKECYDVYSVSSEDRAPFGP
RNGTAWIYTSEKDLNGSSHWGIIATYSGAGYYLDLSRTREETAAQVASLKKNVWLDRGTR
ATFIDFSVYNANINLFCVVRLLVEFPATGGVIPSWQFQPLKLIRYVTTFDFFLAACEIIF
CFFIFYYVVEEILEIRIHKLHYFRSFWNCLDVVIVVLSVVAIGINIYRTSNVEVLLQFLE
DQNTFPNFEHLAYWQIQFNNIAAVTVFFVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGF
AIMFFIIFLAYAQLAYLVFGTQVDDFSTFQECIFTQFRIILGDINFAEIEEANRVLGPIY
FTTFVFFMFFILLNMFLAIINDTYSEVKSDLAQQKAEMELSDLIRKGYHKALVKLKLKKN
TVDDISESLRQGGGKLNFDELRQDLKGKGHTDAEIEAIFTKYDQDGDQELTEHEHQQMRD
DLEKEREDLDLDHSSLPRPMSSRSFPRSLDDSEEDDDEDSGHSSRRRGSISSGVSYEEFQ
VLVRRVDRMEHSIGSIVSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDERLGRDSEI
HREQMERLVREELERWESDDAASQISHGLGTPVGLNGQPRPRSSRPSSSQSTEGMEGAGG
NGSSNVHV
GenBank ID Protein 3126905
UniProtKB/Swiss-Prot ID Q13563
UniProtKB/Swiss-Prot Entry Name PKD2_HUMAN
PDB IDs Not Available
GenBank Gene ID AF004873
GeneCard ID PKD2
GenAtlas ID PKD2
HGNC ID HGNC:9009
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [PubMed:17081983 ]
  3. Molina H, Horn DM, Tang N, Mathivanan S, Pandey A: Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry. Proc Natl Acad Sci U S A. 2007 Feb 13;104(7):2199-204. Epub 2007 Feb 7. [PubMed:17287340 ]
  4. Stayner C, Zhou J: Polycystin channels and kidney disease. Trends Pharmacol Sci. 2001 Nov;22(11):543-6. [PubMed:11698076 ]
  5. Peltola P, Lumiaho A, Miettinen R, Pihlajamaki J, Sandford R, Laakso M: Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. J Mol Med (Berl). 2005 Aug;83(8):638-46. Epub 2005 Mar 17. [PubMed:15772804 ]
  6. Tan YC, Blumenfeld JD, Anghel R, Donahue S, Belenkaya R, Balina M, Parker T, Levine D, Leonard DG, Rennert H: Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. Hum Mutat. 2009 Feb;30(2):264-73. doi: 10.1002/humu.20842. [PubMed:18837007 ]
  7. Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJ, Somlo S: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science. 1996 May 31;272(5266):1339-42. [PubMed:8650545 ]
  8. Hayashi T, Mochizuki T, Reynolds DM, Wu G, Cai Y, Somlo S: Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics. 1997 Aug 15;44(1):131-6. [PubMed:9286709 ]
  9. Schneider MC, Rodriguez AM, Nomura H, Zhou J, Morton CC, Reeders ST, Weremowicz S: A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2. Genomics. 1996 Nov 15;38(1):1-4. [PubMed:8954772 ]
  10. Lehtonen S, Ora A, Olkkonen VM, Geng L, Zerial M, Somlo S, Lehtonen E: In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2. J Biol Chem. 2000 Oct 20;275(42):32888-93. [PubMed:10913159 ]
  11. Gallagher AR, Cedzich A, Gretz N, Somlo S, Witzgall R: The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. Proc Natl Acad Sci U S A. 2000 Apr 11;97(8):4017-22. [PubMed:10760273 ]
  12. Celic A, Petri ET, Demeler B, Ehrlich BE, Boggon TJ: Domain mapping of the polycystin-2 C-terminal tail using de novo molecular modeling and biophysical analysis. J Biol Chem. 2008 Oct 17;283(42):28305-12. doi: 10.1074/jbc.M802743200. Epub 2008 Aug 11. [PubMed:18694932 ]
  13. 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: A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet. 1997 Sep;61(3):547-55. [PubMed:9326320 ]
  14. 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: Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. J Am Soc Nephrol. 1999 Nov;10(11):2342-51. [PubMed:10541293 ]
  15. Torra R, Viribay M, Telleria D, Badenas C, Watson M, Harris P, Darnell A, San Millan JL: Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. Kidney Int. 1999 Jul;56(1):28-33. [PubMed:10411676 ]
  16. Watnick T, He N, Wang K, Liang Y, Parfrey P, Hefferton D, St George-Hyslop P, Germino G, Pei Y: Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. Nat Genet. 2000 Jun;25(2):143-4. [PubMed:10835625 ]
  17. Reiterova J, Stekrova J, Peters DJ, Kapras J, Kohoutova M, Merta M, Zidovska J: Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. Hum Mutat. 2002 May;19(5):573. [PubMed:11968093 ]
  18. Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D, Pei Y: Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2003 May;14(5):1164-74. [PubMed:12707387 ]
  19. Stekrova J, Reiterova J, Merta M, Damborsky J, Zidovska J, Kebrdlova V, Kohoutova M: PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 2004 May;19(5):1116-22. Epub 2004 Feb 19. [PubMed:14993477 ]