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Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004572 Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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RefSeq Version NM_004572.3, 148664225
Length 4439 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.
Product plakophilin-2 isoform 2b
Comment

Summary: This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008].


Transcript Variant: This transcript variant (2b) represents the longer transcript variant and encodes the longer isoform.

RefSeq NP_004563.2
CDS 116..2761
Misc Feature(1)245..247
Misc Feature(2)245..247
Misc Feature(3)509..511
Misc Feature(4)509..511
Misc Feature(5)566..568
Misc Feature(6)575..577
Misc Feature(7)578..580
Misc Feature(8)620..622
Misc Feature(9)620..622
Misc Feature(10)704..706
Misc Feature(11)866..868
Misc Feature(12)1100..1102
Misc Feature(13)1136..1264
Misc Feature(14)1163..1516
Misc Feature(15)order(1226..1228,1238..1240,1250..1252,1343..1345,
Misc Feature(16)1268..1387
Misc Feature(17)1394..1516
Misc Feature(18)1826..1963
Misc Feature(19)2126..2248
Misc Feature(20)2138..2527
Misc Feature(21)order(2213..2215,2225..2227,2237..2239,2345..2347,
Misc Feature(22)2270..2389
Misc Feature(23)2402..2527
Misc Feature(24)2534..2662
Exon (1)1..338
Gene:PKP2
Gene Synonym:ARVD9
Exon (2)339..451
Gene:PKP2
Gene Synonym:ARVD9
Exon (3)452..1149
Gene:PKP2
Gene Synonym:ARVD9
Exon (4)1150..1285
Gene:PKP2
Gene Synonym:ARVD9
Exon (5)1286..1493
Gene:PKP2
Gene Synonym:ARVD9
Exon (6)1494..1625
Gene:PKP2
Gene Synonym:ARVD9
Exon (7)1626..1803
Gene:PKP2
Gene Synonym:ARVD9
Exon (8)1804..1921
Gene:PKP2
Gene Synonym:ARVD9
Exon (9)1922..2086
Gene:PKP2
Gene Synonym:ARVD9
Exon (10)2087..2260
Gene:PKP2
Gene Synonym:ARVD9
Exon (11)2261..2414
Gene:PKP2
Gene Synonym:ARVD9
Exon (12)2415..2604
Gene:PKP2
Gene Synonym:ARVD9
Exon (13)2605..2692
Gene:PKP2
Gene Synonym:ARVD9
Exon (14)2693..4439
Gene:PKP2
Gene Synonym:ARVD9
Translation MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQV QQTLARKGRSSVGNGNLHRTSSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYE GRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAHYTHSDYQYSQRSQAGHTLHH QESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPAL LTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVTQNRASRSSWHQSSFHSTRT LREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLTERSTFTDSQLGNADMEMTLERAVSML EADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKLLQLLKVQNEDVQRAVCGALR NLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQITDHTVNLRSRNGWPGAVAHACN PSTLGGQGGRITRSGVRDQPDQHGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPE GDYPKANGLLDFDIFYNVTGCLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPD DKATENCVCILHNLSYQLEAELPEKYSQNIYIQNRNIQTDNNKSIGCFGSRSRKVKEQYQ DVPMPEEKSNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGSGPMPTSV AQTVVQKESGLQHTRKMLHVGDPSVKKTAISLLRNLSRNLSLQNEIAKETLPDLVSIIPD TVPSTDLLIETTASACYTLNNIIQNSYQNARDLLNTGGIQKIMAISAGDAYASNKASKAA SVLLYSLWAHTELHHAYKKAQFKKTDFVNSRTAKAYHSLKD
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Position Chain Variation Link
complement(191)-t, cdbSNP:143004808
complement(271)-t, cdbSNP:201210997
complement(289)-c, adbSNP:146708884
complement(299)-t, gdbSNP:199601548
complement(308)-c, adbSNP:143323961
complement(309)-g, adbSNP:139924723
complement(313)-t, cdbSNP:144106848
complement(324)-c, adbSNP:75909145
complement(350)-dbSNP:
complement(350)-t, cdbSNP:121434420
complement(417)-t, cdbSNP:149542398
complement(422)-t, gdbSNP:139215336
complement(459)-dbSNP:
complement(459)-g, adbSNP:199860323
complement(480)-t, cdbSNP:201306582
complement(534)-g, adbSNP:150821281
complement(535)-g, adbSNP:2389115
complement(548..549)-, ctdbSNP:199643407
complement(579)-g, cdbSNP:141438322
complement(601)-c, adbSNP:189040311
complement(620)-t, cdbSNP:139139859
complement(673)-t, gdbSNP:184522105
complement(674)-t, cdbSNP:200095747
complement(702)-t, cdbSNP:146566525
complement(797)-t, cdbSNP:143954425
complement(821)-c, adbSNP:62001015
complement(832)-g, adbSNP:143777637
complement(840)-g, adbSNP:201580443
complement(899)-t, gdbSNP:199701968
complement(906)-g, adbSNP:62001016
complement(934)-t, cdbSNP:3748279
complement(937)-g, cdbSNP:145886908
complement(941)-g, adbSNP:201944276
complement(1002)-t, gdbSNP:150296101
complement(1015)-t, cdbSNP:140235564
complement(1029)-t, cdbSNP:146683466
complement(1042)-g, adbSNP:200152448
complement(1054)-g, adbSNP:61729381
complement(1056)-t, cdbSNP:139903989
complement(1066)-t, cdbSNP:61729382
complement(1068)-t, gdbSNP:181098323
complement(1078)-g, adbSNP:202207343
complement(1079)-t, cdbSNP:200069860
complement(1087)-t, cdbSNP:142636176
complement(1089)-g, adbSNP:201803918
complement(1091)-t, cdbSNP:148480056
complement(1098)-g, cdbSNP:144651139
complement(1111)-t, cdbSNP:144574595
complement(1125)-t, cdbSNP:144401285
complement(1127)-t, cdbSNP:139851304
complement(1160)-dbSNP:
complement(1160)-t, cdbSNP:199957846
complement(1163)-t, cdbSNP:147264025
complement(1208)-t, cdbSNP:143900944
complement(1212)-t, cdbSNP:1046116
complement(1229)-g, cdbSNP:200586695
complement(1231)-g, adbSNP:142742483
complement(1242)-g, adbSNP:56869013
complement(1252)-g, adbSNP:141547108
complement(1345)-dbSNP:
complement(1345)-g, adbSNP:148364390
complement(1346)-t, cdbSNP:192041220
complement(1353)-t, cdbSNP:200715477
complement(1407)-g, adbSNP:143397927
complement(1438)-c, adbSNP:3748278
complement(1465)-t, cdbSNP:200831332
complement(1487)-t, cdbSNP:199571473
complement(1535)-dbSNP:
complement(1535)-t, cdbSNP:138538072
complement(1548)-g, adbSNP:144620127
complement(1564)-g, adbSNP:140888848
complement(1579)-g, adbSNP:144971022
complement(1580)-t, cdbSNP:111450489
complement(1583)-g, adbSNP:149930872
complement(1591)-t, cdbSNP:140301552
complement(1604)-g, adbSNP:151212477
complement(1665)-dbSNP:
complement(1665)-t, cdbSNP:144536197
complement(1692)-g, adbSNP:146882581
complement(1707)-c, adbSNP:147240502
complement(1711)-t, gdbSNP:145387575
complement(1728)-g, adbSNP:193922672
complement(1756)-g, adbSNP:143782040
complement(1762)-t, cdbSNP:148533214
complement(1784)-t, cdbSNP:200343561
complement(1808)-dbSNP:
complement(1808)-t, cdbSNP:200644080
complement(1824)-g, adbSNP:140058940
complement(1874)-t, cdbSNP:146102241
complement(1884)-g, adbSNP:113214922
complement(1964)-dbSNP:
complement(1964)-g, adbSNP:201405287
complement(2056)-c, adbSNP:149392678
complement(2089)-dbSNP:
complement(2089)-t, cdbSNP:138901574
complement(2110)-t, cdbSNP:146144731
complement(2135)-t, cdbSNP:143038626
complement(2143)-g, adbSNP:193922673
complement(2147)-c, adbSNP:200327989
complement(2155)-g, adbSNP:138495471
complement(2177)-g, adbSNP:144601090
complement(2198)-g, adbSNP:199583774
complement(2202)-t, cdbSNP:140852019
complement(2249)-t, cdbSNP:200844640
complement(2265)-dbSNP:
complement(2265)-g, adbSNP:144018320
complement(2266)-t, cdbSNP:147995773
complement(2318)-t, cdbSNP:121434421
complement(2337)-c, adbSNP:143503798
complement(2368)-t, cdbSNP:139098675
complement(2418)-dbSNP:
complement(2418)-t, gdbSNP:201487421
complement(2422)-t, adbSNP:201910118
complement(2475)-c, adbSNP:145553222
complement(2507)-t, cdbSNP:112592855
complement(2527)-t, cdbSNP:200272388
complement(2546)-t, gdbSNP:139734328
complement(2549)-t, cdbSNP:200947767
complement(2570)-t, adbSNP:147653624
complement(2579)-t, adbSNP:145324631
complement(2596)-t, cdbSNP:139258347
complement(2600)-t, cdbSNP:151264959
complement(2602)-g, adbSNP:142362933
complement(2607)-dbSNP:
complement(2607)-t, cdbSNP:200411128
complement(2658)-g, cdbSNP:117425357
complement(2667)-g, adbSNP:146118033
complement(2668)-t, cdbSNP:199900632
complement(2746)-dbSNP:
complement(2746)-t, gdbSNP:202094467
complement(2785)-g, adbSNP:112122278
complement(2800)-t, cdbSNP:192293307
complement(2963)-g, adbSNP:77988382
complement(3012)-g, cdbSNP:12612
complement(3042)-t, cdbSNP:78540632
complement(3064)-t, cdbSNP:148693924
complement(3344..3345)-, ttaagtdbSNP:137947383
complement(3368)-t, gdbSNP:187797390
complement(3407)-t, cdbSNP:144983891
complement(3422)-t, gdbSNP:183456715
complement(3432)-g, adbSNP:191280908
complement(3444)-g, adbSNP:144110140
complement(3456)-t, adbSNP:1046131
complement(3516)-t, cdbSNP:1046132
complement(3573)-t, cdbSNP:9394
complement(3705)-t, gdbSNP:6488090
complement(3825)-g, adbSNP:201302510
complement(3957..3959)-ggt, agdbSNP:71460977
complement(3957)-g, adbSNP:1046138
complement(3960)-, adbSNP:11476598
complement(4007)-g, adbSNP:187618849
complement(4032)-g, cdbSNP:12314796
complement(4072)-, adbSNP:3833501
complement(4155)-t, adbSNP:112547924
complement(4192)-g, adbSNP:1046150
complement(4255)-t, cdbSNP:11539836
complement(4324)-t, gdbSNP:1046154
Gene SymbolPKP2
Gene SynonymARVD9
Chromosome12
Locus Map12p11
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001005242 Homo sapiens plakophilin 2 (PKP2), transcript variant 2a, mRNA. In-stock $809.00 $760.00 15
NM_004572 Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. On-demand $899.00 20
Title Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations .
Author Kirchner,F., Schuetz,A., Boldt,L.H., Martens,K., Dittmar,G., Haverkamp,W., Thierfelder,L., Heinemann,U. and Gerull,B.
Journal Circ Cardiovasc Genet 5 (4), 400-411 (2012)
Title A novel variant in plakophilin-2 gene detected in a family with arrhythmogenic right ventricular cardiomyopathy .
Author Ostrowska Dahlgren,B., Allen,M., Lindstrom,A.C., Bjerke,M. and Blomstrom-Lundqvist,C.
Journal J Interv Card Electrophysiol 34 (1), 11-18 (2012)
Title Novel plakophilin2 mutation: three-generation family with arrhythmogenic right ventricular cardiomyopathy .
Author Aneq,M.A., Fluur,C., Rehnberg,M., Soderkvist,P., Engvall,J., Nylander,E. and Gunnarsson,C.
Journal Scand. Cardiovasc. J. 46 (2), 72-75 (2012)
Title Up-regulation of plakophilin-2 and Down-regulation of plakophilin-3 are correlated with invasiveness in bladder cancer .
Author Takahashi,H., Nakatsuji,H., Takahashi,M., Avirmed,S., Fukawa,T., Takemura,M., Fukumori,T. and Kanayama,H.
Journal Urology 79 (1), 240 (2012)
Title PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA) .
Author Zhang,M., Tavora,F., Oliveira,J.B., Li,L., Franco,M., Fowler,D., Zhao,Z. and Burke,A.
Journal Circ. J. 76 (1), 189-194 (2012)
Title Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization .
Author Bonne,S., van Hengel,J. and van Roy,F.
Journal Cytogenet. Cell Genet. 88 (3-4), 286-287 (2000)
Title Plakophilin 3--a novel cell-type-specific desmosomal plaque protein .
Author Schmidt,A., Langbein,L., Pratzel,S., Rode,M., Rackwitz,H.R. and Franke,W.W.
Journal Differentiation 64 (5), 291-306 (1999)
Title Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues .
Author Mertens,C., Kuhn,C., Moll,R., Schwetlick,I. and Franke,W.W.
Journal Differentiation 64 (5), 277-290 (1999)
Title Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily .
Author Bonne,S., van Hengel,J. and van Roy,F.
Journal Genomics 51 (3), 452-454 (1998)
Title Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque .
Author Mertens,C., Kuhn,C. and Franke,W.W.
Journal J. Cell Biol. 135 (4), 1009-1025 (1996)


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