Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.
| RefSeq Version | NM_004572.3, 148664225 |
| Length | 4439 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| 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]. Transcript Variant: This transcript variant (2b) represents the longer transcript variant and encodes the longer isoform. |
| RefSeq | NP_004563.2 |
| CDS | 116..2761 | Exon (1) | 1..338 | Exon (2) | 1..338 | Exon (3) | 339..451 | Exon (4) | 452..1149 | Exon (5) | 1150..1285 | Exon (6) | 1286..1493 | Exon (7) | 1494..1625 | Exon (8) | 1626..1803 | Exon (9) | 1804..1921 | Exon (10) | 1922..2086 | Exon (11) | 2087..2260 | Exon (12) | 2261..2414 | Exon (13) | 2415..2604 | Exon (14) | 2605..2692 | Exon (15) | 2693..4439 |
| 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(324) | - | c, a | dbSNP:75909145 |
| 350 | + | c, t | dbSNP:121434420 |
| complement(535) | - | g, a | dbSNP:2389115 |
| complement(821) | - | c, a | dbSNP:62001015 |
| complement(906) | - | g, a | dbSNP:62001016 |
| complement(934) | - | t, c | dbSNP:3748279 |
| complement(1054) | - | g, a | dbSNP:61729381 |
| complement(1066) | - | t, c | dbSNP:61729382 |
| complement(1099) | - | t, c | dbSNP:79642206 |
| 1212 | + | c, t | dbSNP:1046116 |
| complement(1242) | - | g, a | dbSNP:56869013 |
| complement(1438) | - | c, a | dbSNP:3748278 |
| complement(1580) | - | t, c | dbSNP:111450489 |
| complement(1884) | - | g, a | dbSNP:113214922 |
| complement(2147) | - | c, a | dbSNP:115430596 |
| 2318 | + | c, t | dbSNP:121434421 |
| complement(2422) | - | t, a | dbSNP:117934095 |
| complement(2507) | - | t, c | dbSNP:112592855 |
| complement(2658) | - | g, c | dbSNP:117425357 |
| complement(2785) | - | g, a | dbSNP:112122278 |
| complement(2963) | - | g, a | dbSNP:77988382 |
| 3012 | + | c, g | dbSNP:12612 |
| complement(3042) | - | t, c | dbSNP:78540632 |
| 3456 | + | a, t | dbSNP:1046131 |
| 3516 | + | c, t | dbSNP:1046132 |
| 3573 | + | c, t | dbSNP:9394 |
| complement(3705) | - | t, g | dbSNP:6488090 |
| 3957..3959 | + | ag, ggt | dbSNP:71460977 |
| 3957 | + | a, g | dbSNP:1046138 |
| complement(3958) | - | g, c | dbSNP:117903588 |
| complement(3959) | - | , a | dbSNP:11476598 |
| complement(3960) | - | , a | dbSNP:11477766 |
| complement(4032) | - | g, c | dbSNP:12314796 |
| complement(4062) | - | , a | dbSNP:3833501 |
| complement(4155) | - | t, a | dbSNP:112547924 |
| 4192 | + | a, g | dbSNP:1046150 |
| 4255 | + | c, t | dbSNP:11539836 |
| 4324 | + | g, t | dbSNP:1046154 |
| Gene Symbol | PKP2 |
| Gene Synonym | ARVD9; MGC177501 |
| Chromosome | 12 |
| Locus Map | 12p11 |
| All Transcripts | NM_004572 , NM_001005242 |
| Title | Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy . |
| Author | Christensen,A.H., Benn,M., Bundgaard,H., Tybjaerg-Hansen,A., Haunso,S. and Svendsen,J.H. |
| Journal | J. Med. Genet. 47 (11), 736-744 (2010) |
| Title | A novel kind of tumor type-characteristic junction: plakophilin-2 as a major protein of adherens junctions in cardiac myxomata . |
| Author | Rickelt,S., Rizzo,S., Doerflinger,Y., Zentgraf,H., Basso,C., Gerosa,G., Thiene,G., Moll,R. and Franke,W.W. |
| Journal | Mod. Pathol. 23 (11), 1429-1437 (2010) |
| Title | Plakophilin 2 couples actomyosin remodeling to desmosomal plaque assembly via RhoA . |
| Author | Godsel,L.M., Dubash,A.D., Bass-Zubek,A.E., Amargo,E.V., Klessner,J.L., Hobbs,R.P., Chen,X. and Green,K.J. |
| Journal | Mol. Biol. Cell 21 (16), 2844-2859 (2010) |
| Title | Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice . |
| Author | Fressart,V., Duthoit,G., Donal,E., Probst,V., Deharo,J.C., Chevalier,P., Klug,D., Dubourg,O., Delacretaz,E., Cosnay,P., Scanu,P., Extramiana,F., Keller,D., Hidden-Lucet,F., Simon,F., Bessirard,V., Roux-Buisson,N., Hebert,J.L., Azarine,A., Casset-Senon,D., Rouzet,F., Lecarpentier,Y., Fontaine,G., Coirault,C., Frank,R., Hainque,B. and Charron,P. |
| Journal | Europace 12 (6), 861-868 (2010) |
| Title | Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria . |
| Author | Cox,M.G., van der Smagt,J.J., Noorman,M., Wiesfeld,A.C., Volders,P.G., van Langen,I.M., Atsma,D.E., Dooijes,D., Houweling,A.C., Loh,P., Jordaens,L., Arens,Y., Cramer,M.J., Doevendans,P.A., van Tintelen,J.P., Wilde,A.A. and Hauer,R.N. |
| Journal | Circ Arrhythm Electrophysiol 3 (2), 126-133 (2010) |
| 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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