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Database:

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Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.


RefSeq Accession Definition Services Price Order
NM_000297 Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA. ORF Sequence $843.03
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Antibody Services
Protein Services


RefSeq Version NM_000297.3, 325121002
Length 5089 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.
Product polycystin-2
Comment

Summary: This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011].

RefSeq NP_000288.1
CDS 88..2994
Misc Feature(1)28..30
Misc Feature(2)28..30
Misc Feature(3)583..585
Misc Feature(4)583..585
Misc Feature(5)757..819
Misc Feature(6)886..2148
Misc Feature(7)1033..1071
Misc Feature(8)1492..1554
Misc Feature(9)1603..1665
Misc Feature(10)1738..1800
Misc Feature(11)1882..1944
Misc Feature(12)2062..2124
Misc Feature(13)2197..2469
Misc Feature(14)2281..2421
Misc Feature(15)order(2284..2286,2305..2307,2374..2376,2380..2382,
Misc Feature(16)2494..2553
Misc Feature(17)2521..2523
Misc Feature(18)2569..2991
Exon (1)1..682
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (2)683..796
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (3)797..930
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (4)931..1181
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (5)1182..1406
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (6)1407..1635
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (7)1636..1803
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (8)1804..1985
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (9)1986..2106
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (10)2107..2205
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (11)2206..2327
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (12)2328..2445
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (13)2446..2609
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (14)2610..2757
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Exon (15)2758..5079
Gene:PKD2
Gene Synonym:APKD2; Pc-2; PC2; PKD4; TRPP2
Translation MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPGGLCEQRGLEIEMQRIR QAAARDPPAGAAASPSPPLSSCSRQAWSRDNPGFEAEEEEEEVEGEEGGMVVEMDVEWRP GSRRSAASSAVSSVGARSRGLGGYHGAGHPSGRRRRREDQGPPCPSPVGGGDPLHRHLPL EGQPPRVAWAERLVRGLRGLWGTRLMEESSTNREKYLKSVLRELVTYLLFLIVLCILTYG MMSSNVYYYTRMMSQLFLDTPVSKTEKTNFKTLSSMEDFWKFTEGSLLDGLYWKMQPSNQ TEADNRSFIFYENLLLGVPRIRQLRVRNGSCSIPQDLRDEIKECYDVYSVSSEDRAPFGP RNGTAWIYTSEKDLNGSSHWGIIATYSGAGYYLDLSRTREETAAQVASLKKNVWLDRGTR ATFIDFSVYNANINLFCVVRLLVEFPATGGVIPSWQFQPLKLIRYVTTFDFFLAACEIIF CFFIFYYVVEEILEIRIHKLHYFRSFWNCLDVVIVVLSVVAIGINIYRTSNVEVLLQFLE DQNTFPNFEHLAYWQIQFNNIAAVTVFFVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGF AIMFFIIFLAYAQLAYLVFGTQVDDFSTFQECIFTQFRIILGDINFAEIEEANRVLGPIY FTTFVFFMFFILLNMFLAIINDTYSEVKSDLAQQKAEMELSDLIRKGYHKALVKLKLKKN TVDDISESLRQGGGKLNFDELRQDLKGKGHTDAEIEAIFTKYDQDGDQELTEHEHQQMRD DLEKEREDLDLDHSSLPRPMSSRSFPRSLDDSEEDDDEDSGHSSRRRGSISSGVSYEEFQ VLVRRVDRMEHSIGSIVSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDERLGRDSEI HREQMERLVREELERWESDDAASQISHGLGTPVGLNGQPRPRSSRPSSSQSTEGMEGAGG NGSSNVHV
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Position Chain Variation Link
170+c, gdbSNP:1805044
507+c, tdbSNP:2728118
531+c, tdbSNP:181704860
655+a, gdbSNP:117078377
691+dbSNP:
691+a, gdbSNP:139121831
799+dbSNP:
799+a, tdbSNP:145910596
820+a, cdbSNP:200543024
839+a, gdbSNP:147000344
871+a, gdbSNP:138132026
893+a, gdbSNP:201632217
935+dbSNP:
935+c, tdbSNP:200759509
979+a, gdbSNP:200912883
985+c, gdbSNP:142118986
1003+a, cdbSNP:200001068
1032+a, gdbSNP:201789789
1052+a, gdbSNP:145877597
1053+g, tdbSNP:138446087
1081+g, tdbSNP:200314088
1122+c, tdbSNP:113818977
1179+c, tdbSNP:149257723
1201+dbSNP:
1201+a, gdbSNP:188394492
1226+a, gdbSNP:121918039
1235+c, tdbSNP:144431856
1300+c, tdbSNP:121918041
1310+g, tdbSNP:148386297
1337+a, gdbSNP:142261953
1433+dbSNP:
1433+g, tdbSNP:1131408
1441+a, gdbSNP:1801612
1446+a, gdbSNP:17013754
1476+a, cdbSNP:139700679
1477+c, tdbSNP:121918042
1478+a, gdbSNP:144390370
1486+a, gdbSNP:202245969
1531+g, tdbSNP:201504575
1532+g, tdbSNP:75762896
1546+c, tdbSNP:201328200
1564+c, tdbSNP:139753109
1604+c, tdbSNP:149780942
1619+a, tdbSNP:121918043
1629+c, tdbSNP:145716012
1633+g, tdbSNP:143581690
1642+dbSNP:
1642+a, gdbSNP:148920907
1704+c, gdbSNP:145297759
1721+c, tdbSNP:147630070
1811+dbSNP:
1811+a, gdbSNP:181037821
1917+a, gdbSNP:144968710
1923+c, tdbSNP:145952917
1956+c, gdbSNP:148228357
1980+a, gdbSNP:140182728
1991+dbSNP:
1991+c, gdbSNP:150314615
1995+a, gdbSNP:112589618
2013+c, tdbSNP:186866404
2018+c, tdbSNP:137929700
2035+a, gdbSNP:142303714
2047+a, cdbSNP:146396414
2054+g, tdbSNP:138476749
2072+c, tdbSNP:142983796
2129+dbSNP:
2129+a, gdbSNP:199723110
2221+dbSNP:
2221+c, tdbSNP:73841280
2226+c, tdbSNP:200707583
2268+a, gdbSNP:201367641
2311+c, tdbSNP:121918040
2332+dbSNP:
2332+a, gdbSNP:148761063
2333..2334+, cdbSNP:34640972
2382+c, tdbSNP:138982773
2428+a, gdbSNP:142360839
2479+dbSNP:
2479+c, tdbSNP:150838063
2485+a, cdbSNP:2234917
2498+a, gdbSNP:145343957
2507+a, gdbSNP:147654263
2573+a, gdbSNP:140589899
2578+c, tdbSNP:149728995
2581+a, gdbSNP:145574534
2586+c, tdbSNP:180709531
2587+a, gdbSNP:148869484
2630+dbSNP:
2630+a, gdbSNP:201598917
2658+a, gdbSNP:200515044
2774+dbSNP:
2774+a, gdbSNP:143500495
2807+a, gdbSNP:150947109
2812+a, gdbSNP:140848008
2816+c, gdbSNP:144590958
2886+a, gdbSNP:202049732
2916+c, tdbSNP:138495345
2920+c, tdbSNP:200394279
2950+a, gdbSNP:200131001
2953+a, gdbSNP:142701912
3000+a, gdbSNP:202219511
3026+a, tdbSNP:190600838
3042+g, tdbSNP:78188174
3065+a, gdbSNP:182182080
3168+g, tdbSNP:187001642
3221..3222+, adbSNP:200938134
3233+g, tdbSNP:147418332
3250+a, gdbSNP:2728121
3269+c, gdbSNP:111532876
3378+c, tdbSNP:192342290
3546+a, gdbSNP:139787413
3768+c, gdbSNP:182440735
3831+c, gdbSNP:77638442
3928+g, tdbSNP:77924334
3951+a, tdbSNP:143594425
4004+a, gdbSNP:144024108
4024+c, tdbSNP:2725202
4114+c, tdbSNP:116540621
4170+g, tdbSNP:148672429
4191+c, tdbSNP:142871124
4231+a, gdbSNP:10965
4339+, adbSNP:201035787
4466..4467+, cdbSNP:34636451
4808+a, gdbSNP:186735575
4820+a, tdbSNP:189817187
4994+a, g, tdbSNP:182468664
5026+a, cdbSNP:151074095
Gene SymbolPKD2
Gene SynonymAPKD2; Pc-2; PC2; PKD4; TRPP2
Chromosome4
Locus Map4q22.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000297 Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA. Full Length $2290.05
ORF Sequence $843.03
Title Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations .
Author Okada,Y., Sim,X., Go,M.J., Wu,J.Y., Gu,D., Takeuchi,F., Takahashi,A., Maeda,S., Tsunoda,T., Chen,P., Lim,S.C., Wong,T.Y., Liu,J., Young,T.L., Aung,T., Seielstad,M., Teo,Y.Y., Kim,Y.J., Lee,J.Y., Han,B.G., Kang,D., Chen,C.H., Tsai,F.J., Chang,L.C., Fann,S.J., Mei,H., Rao,D.C., Hixson,J.E., Chen,S., Katsuya,T., Isono,M., Ogihara,T., Chambers,J.C., Zhang,W., Kooner,J.S., Albrecht,E., Yamamoto,K., Kubo,M., Nakamura,Y., Kamatani,N., Kato,N., He,J., Chen,Y.T., Cho,Y.S., Tai,E.S. and Tanaka,T.
Journal Nat. Genet. 44 (8), 904-909 (2012)
Title Pathway analysis of genome-wide association studies on uric acid concentrations .
Author Lee,Y.H. and Song,G.G.
Journal Hum. Immunol. 73 (8), 805-810 (2012)
Title Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients .
Author Audrezet,M.P., Cornec-Le Gall,E., Chen,J.M., Redon,S., Quere,I., Creff,J., Benech,C., Maestri,S., Le Meur,Y. and Ferec,C.
Journal Hum. Mutat. 33 (8), 1239-1250 (2012)
Title Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic .
Author Robinson,C., Hiemstra,T.F., Spencer,D., Waller,S., Daboo,L., Karet Frankl,F.E. and Sandford,R.N.
Journal BMC Nephrol 13, 79 (2012)
Title Structural interaction and functional regulation of polycystin-2 by filamin .
Author Wang,Q., Dai,X.Q., Li,Q., Wang,Z., Cantero Mdel,R., Li,S., Shen,J., Tu,J.C., Cantiello,H. and Chen,X.Z.
Journal PLoS ONE 7 (7), E40448 (2012)
Title A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2) .
Author Xenophontos,S., Constantinides,R., Hayashi,T., Mochizuki,T., Somlo,S., Pierides,A. and Deltas,C.C.
Journal Hum. Mol. Genet. 6 (6), 949-952 (1997)
Title PKD1 interacts with PKD2 through a probable coiled-coil domain .
Author Qian,F., Germino,F.J., Cai,Y., Zhang,X., Somlo,S. and Germino,G.G.
Journal Nat. Genet. 16 (2), 179-183 (1997)
Title A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2 .
Author Schneider,M.C., Rodriguez,A.M., Nomura,H., Zhou,J., Morton,C.C., Reeders,S.T. and Weremowicz,S.
Journal Genomics 38 (1), 1-4 (1996)
Title PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein .
Author 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. and Somlo,S.
Journal Science 272 (5266), 1339-1342 (1996)
Title Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease .
Author Peters,D.J., Spruit,L., Saris,J.J., Ravine,D., Sandkuijl,L.A., Fossdal,R., Boersma,J., van Eijk,R., Norby,S., Constantinou-Deltas,C.D. et al.
Journal Nat. Genet. 5 (4), 359-362 (1993)

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