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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

*Business Day

Related Services

RefSeq Version NM_004572.3, 148664225
Length 4439 bp
Structure linear
Update Date 11-MAY-2014
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(94)-dbSNP:
complement(94)-g, cdbSNP:373925978
127+c, tdbSNP:397516991
129+, gdbSNP:397516996
complement(191)-t, cdbSNP:143004808
263..266+, acagdbSNP:397516997
complement(271)-t, cdbSNP:201210997
complement(289)-c, adbSNP:146708884
complement(299)-t, gdbSNP:199601548
complement(309)-g, adbSNP:139924723
310+c, tdbSNP:397517014
complement(313)-t, cdbSNP:144106848
complement(324)-c, adbSNP:75909145
329+g, tdbSNP:397517019
complement(339)-dbSNP:
complement(339)-t, cdbSNP:267603443
350+c, tdbSNP:121434420
384..387+, tacadbSNP:397517025
complement(417)-t, cdbSNP:149542398
complement(421)-t, gdbSNP:376613662
complement(422)-t, gdbSNP:139215336
complement(428)-g, cdbSNP:375035084
complement(459)-dbSNP:
complement(459)-g, adbSNP:199860323
complement(480)-t, cdbSNP:201306582
complement(534)-g, adbSNP:150821281
complement(535)-g, adbSNP:2389115
548..549+, ctdbSNP:199643407
577+c, gdbSNP:397517026
complement(579)-g, cdbSNP:141438322
588+a, gdbSNP:397517027
complement(601)-c, adbSNP:189040311
complement(620)-t, cdbSNP:139139859
631+a, cdbSNP:397517028
complement(663)-t, cdbSNP:373222905
complement(673)-t, gdbSNP:184522105
complement(674)-t, cdbSNP:200095747
complement(691)-t, cdbSNP:373380483
complement(702)-t, cdbSNP:146566525
complement(713)-t, cdbSNP:369923216
complement(797)-t, cdbSNP:143954425
complement(811)-g, adbSNP:375677250
complement(821)-c, adbSNP:62001015
complement(832)-g, adbSNP:143777637
complement(834)-g, adbSNP:372700909
complement(840)-g, adbSNP:201580443
complement(864)-c, adbSNP:369332786
complement(899)-t, gdbSNP:199701968
complement(906)-g, adbSNP:62001016
complement(910)-c, adbSNP:375268778
complement(934)-t, cdbSNP:3748279
complement(937)-g, cdbSNP:145886908
complement(941)-g, adbSNP:201944276
complement(961)-g, cdbSNP:377137357
complement(969)-g, adbSNP:372664096
1003+c, tdbSNP:397517029
complement(1015)-t, cdbSNP:140235564
complement(1024)-t, cdbSNP:376001513
complement(1029)-t, cdbSNP:146683466
complement(1033)-g, adbSNP:368656084
complement(1042)-g, adbSNP:200152448
complement(1054)-g, adbSNP:61729381
complement(1056)-t, cdbSNP:139903989
1066..1098+ac, gcacttgactgtcggccaggcggccgcagggggdbSNP:397517030
complement(1066)-t, cdbSNP:61729382
complement(1068)-t, gdbSNP:181098323
complement(1078)-g, adbSNP:202207343
complement(1079)-t, c, adbSNP:200069860
complement(1087)-t, cdbSNP:142636176
complement(1089)-g, adbSNP:201803918
complement(1090)-g, adbSNP:369921166
complement(1091)-t, cdbSNP:148480056
complement(1098)-g, cdbSNP:144651139
complement(1104)-c, adbSNP:373041797
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(1179)-t, cdbSNP:370868564
1195+c, tdbSNP:397516984
complement(1196)-t, cdbSNP:375404471
complement(1201)-t, cdbSNP:376167178
complement(1208)-t, cdbSNP:143900944
1212+c, tdbSNP:1046116
complement(1229)-g, cdbSNP:200586695
complement(1231)-g, adbSNP:142742483
complement(1242)-g, adbSNP:56869013
1245+c, tdbSNP:397516985
1247+c, tdbSNP:397516986
1326..1327+dbSNP:
1326..1327+, tdbSNP:397516989
complement(1345)-g, adbSNP:148364390
complement(1346)-t, cdbSNP:192041220
complement(1352)-g, adbSNP:372827156
complement(1353)-t, cdbSNP:200715477
1386+c, tdbSNP:397516990
complement(1407)-g, adbSNP:143397927
1422..1430+atttagtt, taaatggggdbSNP:397516992
complement(1438)-c, adbSNP:3748278
complement(1441)-t, cdbSNP:377076035
complement(1465)-t, cdbSNP:200831332
1484..1487+, caaadbSNP:397516993
complement(1487)-t, cdbSNP:199571473
complement(1497)-dbSNP:
complement(1497)-t, cdbSNP:376606525
complement(1517)-t, cdbSNP:267603442
complement(1534)-g, adbSNP:377424658
complement(1535)-t, cdbSNP:138538072
complement(1536)-g, adbSNP:373399921
complement(1543)-g, adbSNP:375918225
complement(1548)-g, adbSNP:144620127
complement(1580)-t, cdbSNP:111450489
complement(1583)-g, adbSNP:149930872
complement(1584)-t, cdbSNP:369518480
complement(1591)-t, cdbSNP:140301552
1597+a, gdbSNP:397516995
complement(1604)-g, adbSNP:151212477
complement(1619)-g, cdbSNP:377000496
complement(1641)-dbSNP:
complement(1641)-g, adbSNP:374163198
complement(1665)-t, cdbSNP:144536197
1689+g, tdbSNP:397516998
1691+a, gdbSNP:397516999
complement(1692)-g, adbSNP:146882581
complement(1693)-t, cdbSNP:370753286
1695+c, tdbSNP:397517000
complement(1707)-c, adbSNP:147240502
complement(1711)-g, adbSNP:145387575
1728+a, gdbSNP:193922672
1729+a, gdbSNP:397517001
complement(1751)-t, cdbSNP:368740836
complement(1756)-g, adbSNP:143782040
complement(1757)-c, adbSNP:374641292
complement(1762)-t, cdbSNP:148533214
1775+a, gdbSNP:397517002
complement(1784)-t, cdbSNP:200343561
complement(1787)-t, cdbSNP:376102257
complement(1808)-dbSNP:
complement(1808)-t, cdbSNP:200644080
1824+, cdbSNP:397517005
complement(1824)-g, adbSNP:140058940
1855+c, tdbSNP:397517006
1871+c, tdbSNP:397517007
complement(1874)-t, cdbSNP:146102241
1874+, gdbSNP:397517008
1875+, tdbSNP:397517009
complement(1884)-g, adbSNP:113214922
complement(1926)-dbSNP:
complement(1926)-g, adbSNP:373360192
1936..1937+, tdbSNP:397517010
complement(1964)-g, adbSNP:201405287
complement(1987)-c, adbSNP:370219248
complement(1996)-g, adbSNP:374897950
2004+c, tdbSNP:397517011
2027+c, tdbSNP:397517012
2070..2071+, gaagdbSNP:397517013
complement(2089)-dbSNP:
complement(2089)-t, cdbSNP:138901574
complement(2110)-t, cdbSNP:146144731
2114+g, tdbSNP:397517015
complement(2134)-g, adbSNP:368325383
complement(2135)-t, cdbSNP:143038626
2143+a, gdbSNP:193922673
complement(2147)-c, adbSNP:200327989
complement(2155)-g, adbSNP:138495471
complement(2177)-g, adbSNP:144601090
complement(2192)-t, cdbSNP:375295635
complement(2198)-g, adbSNP:199583774
complement(2202)-t, cdbSNP:140852019
2234+c, tdbSNP:397517017
2240+c, tdbSNP:397517018
2244+c, tdbSNP:397517016
complement(2245)-c, adbSNP:371089832
complement(2249)-t, cdbSNP:200844640
complement(2265)-dbSNP:
complement(2265)-g, adbSNP:144018320
complement(2266)-t, cdbSNP:147995773
complement(2284)-t, adbSNP:377504106
2312..2317+cacacc, gdbSNP:397517021
2318+c, tdbSNP:121434421
complement(2337)-c, adbSNP:143503798
complement(2368)-t, cdbSNP:139098675
2388+a, gdbSNP:397517020
complement(2408)-g, cdbSNP:368986542
complement(2418)-dbSNP:
complement(2418)-t, gdbSNP:201487421
complement(2422)-t, adbSNP:201910118
2449..2453+cagt, tcctgdbSNP:397517022
complement(2475)-c, adbSNP:145553222
complement(2507)-t, cdbSNP:112592855
complement(2512)-t, cdbSNP:267603441
complement(2527)-t, cdbSNP:200272388
complement(2546)-t, gdbSNP:139734328
complement(2546)-c, adbSNP:386429763
complement(2548)-g, adbSNP:369166666
complement(2549)-t, cdbSNP:200947767
complement(2555)-g, adbSNP:371917866
complement(2563)-g, adbSNP:369837002
complement(2570)-t, adbSNP:147653624
complement(2579)-t, c, 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(2619)-t, cdbSNP:372729739
complement(2634)-g, adbSNP:267603440
complement(2639)-t, cdbSNP:368633311
complement(2656)-t, cdbSNP:374689137
complement(2658)-g, cdbSNP:117425357
complement(2667)-g, adbSNP:146118033
complement(2668)-t, cdbSNP:199900632
2675+c, tdbSNP:397517023
complement(2727)-dbSNP:
complement(2727)-t, cdbSNP:372263407
complement(2730)-g, adbSNP:370599966
complement(2746)-t, gdbSNP:202094467
complement(2768)-g, adbSNP:368280823
complement(2782)-g, adbSNP:374423082
complement(2783)-t, cdbSNP:371003054
complement(2785)-g, adbSNP:112122278
complement(2800)-t, cdbSNP:192293307
complement(2809..2810)-, tdbSNP:369140281
complement(2963)-g, adbSNP:77988382
3012+c, gdbSNP:12612
complement(3042)-t, cdbSNP:78540632
3064+c, tdbSNP:148693924
complement(3091)-t, cdbSNP:375759731
complement(3172)-g, adbSNP:373376331
complement(3344..3345)-, ttaagtdbSNP:137947383
complement(3368)-t, gdbSNP:187797390
3407+c, tdbSNP:144983891
complement(3422)-t, gdbSNP:183456715
complement(3432)-g, adbSNP:191280908
complement(3444)-g, adbSNP:144110140
3456+a, tdbSNP:1046131
3516+c, tdbSNP:1046132
3573+c, tdbSNP:9394
complement(3705)-t, gdbSNP:6488090
complement(3825)-g, adbSNP:201302510
complement(3905)-t, cdbSNP:371438712
3957..3959+ag, ggtdbSNP:71460977
complement(3957..3959)-ct, accdbSNP:386761906
3957+a, gdbSNP:1046138
complement(3959)-, adbSNP:397850018
complement(3960)-, adbSNP:11476598
complement(4007)-g, adbSNP:187618849
complement(4032)-g, cdbSNP:12314796
complement(4062)-, adbSNP:397840855
complement(4072)-, adbSNP:3833501
complement(4155)-t, adbSNP:112547924
4192+a, gdbSNP:1046150
4255+c, tdbSNP:11539836
4324+g, tdbSNP: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 The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy .
Author Chen SN, Gurha P, Lombardi R, Ruggiero A, Willerson JT and Marian AJ.
Journal Circ. Res. 114 (3), 454-468 (2014)
Title Plakophilin 2 affects cell migration by modulating focal adhesion dynamics and integrin protein expression .
Author Koetsier JL, Amargo EV, Todorovic V, Green KJ and Godsel LM.
Journal J. Invest. Dermatol. 134 (1), 112-122 (2014)
Title Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy .
Author Li Mura IE, Bauce B, Nava A, Fanciulli M, Vazza G, Mazzotti E, Rigato I, De Bortoli M, Beffagna G, Lorenzon A, Calore M, Dazzo E, Nobile C, Mostacciuolo ML, Corrado D, Basso C, Daliento L, Thiene G and Rampazzo A.
Journal Eur. J. Hum. Genet. 21 (11), 1226-1231 (2013)
Title Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population .
Author Lahtinen AM, Havulinna AS, Noseworthy PA, Jula A, Karhunen PJ, Perola M, Newton-Cheh C, Salomaa V and Kontula K.
Journal Ann. Med. 45 (4), 328-335 (2013)
Title Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype? .
Author Groeneweg JA, van der Zwaag PA, Jongbloed JD, Cox MG, Vreeker A, de Boer RA, van der Heijden JF, van Veen TA, McKenna WJ, van Tintelen JP, Dooijes D and Hauer RN.
Journal Heart Rhythm 10 (4), 548-559 (2013)
Title Plakophilin 3--a novel cell-type-specific desmosomal plaque protein .
Author Schmidt A, Langbein L, Pratzel S, Rode M, Rackwitz HR and Franke WW.
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 WW.
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 WW.
Journal J. Cell Biol. 135 (4), 1009-1025 (1996)
Title Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy .
Author McNally,E., MacLeod,H. and Dellefave-Castillo,L.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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