The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

PKP2  -  plakophilin 2

Homo sapiens

Synonyms: Plakophilin-2
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of PKP2

  • Thus consistent PKP2 immunostaining has been observed in all 18 cases of adenocarcinomas tested, but more variable and heterogeneous staining has been noted in squamous cell carcinomas, depending on the specific tumor type [1].
  • The results suggest that mAbs to PKP2 may serve as markers for the identification and characterization of carcinomas derived from--or corresponding to--simple or complex epithelia [1].
  • Inducibility of ventricular arrhythmias on an electrophysiology study, diffuse nature of right ventricular disease, and presence of prior spontaneous ventricular tachycardia were identified as predictors of implanted cardioverter/defibrillator (ICD) intervention only among patients without a PKP2 mutation (P<0.05) [2].
  • AIMS: To evaluate clinical disease expression, non-invasive diagnosis, and prognosis in families with dominant vs. recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations in related desmosomal proteins plakophilin-2 (PKP2) and plakoglobin (JUP), respectively [3].
  • METHODS: We sequenced PKP2 from genomic DNA isolated from peripheral blood lymphocytes in a female proband who presented with cardiac arrest and in her four first-degree relatives [4].

High impact information on PKP2


Biological context of PKP2


Anatomical context of PKP2


Other interactions of PKP2

  • Plakophilin 1 and 2 (PKP1, PKP2) are members of the arm-repeat protein family [14].
  • METHODS AND RESULTS: In a series of 80 unrelated ARVC probands, 26 carried a mutation in DSP (16%), PKP2 (14%), and transforming growth factor-beta3 (2.5%) genes; the remaining 54 were screened for DSG2 mutations by denaturing high-performance liquid chromatography and direct sequencing [15].
  • Pathogenic D gene mutations were identified in 10 (48%): desmoglein-2 in four, desmoplakin in three and plakophilin-2 in three [16].
  • METHODS AND RESULTS: One hundred and eighty-seven individuals belonging to ARVC families, four with dominant PKP2 mutations and 12 with recessive JUP mutation underwent serial non-invasive cardiac assessment [3].
  • Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2 [17].

Analytical, diagnostic and therapeutic context of PKP2

  • Plakophilin 2 (PKP2) is a widespread protein which shows a remarkable dual location: On the one hand, it appears as a constitutive karyoplasmic protein and on the other it is a desmosomal plaque component of most, probably all, desmosome-possessing tissues and cell culture lines [1].
  • Using antibodies and recombinant DNA techniques, we have identified plakophilin 2, a novel desmosomal plaque protein of M(r) 100,000 (estimated from SDS-PAGE), which is a member of the arm-repeat family of proteins and can occur in two splice forms (2a and 2b) because of the insertion of a 44 amino acid (aa)-encoding exon [7].
  • To better understand the cellular functions of plakophilin 2, we have examined its protein interactions with other junctional molecules using co-immunoprecipitation and yeast two-hybrid assays [11].
  • Male PKP2 mutation carriers were more likely to have structural and conduction abnormalities as determined by imaging studies, signal-averaged electrocardiography, and 24-h ambulatory electrocardiography (p < 0.05) [12].


  1. Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues. Mertens, C., Kuhn, C., Moll, R., Schwetlick, I., Franke, W.W. Differentiation (1999) [Pubmed]
  2. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Dalal, D., Molin, L.H., Piccini, J., Tichnell, C., James, C., Bomma, C., Prakasa, K., Towbin, J.A., Marcus, F.I., Spevak, P.J., Bluemke, D.A., Abraham, T., Russell, S.D., Calkins, H., Judge, D.P. Circulation (2006) [Pubmed]
  3. Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis. Antoniades, L., Tsatsopoulou, A., Anastasakis, A., Syrris, P., Asimaki, A., Panagiotakos, D., Zambartas, C., Stefanadis, C., McKenna, W.J., Protonotarios, N. Eur. Heart J. (2006) [Pubmed]
  4. Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family. Kannankeril, P.J., Bhuiyan, Z.A., Darbar, D., Mannens, M.M., Wilde, A.A., Roden, D.M. Heart rhythm : the official journal of the Heart Rhythm Society. (2006) [Pubmed]
  5. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C.T., McDermott, D.A., Lerman, B.B., Markowitz, S.M., Ellinor, P.T., MacRae, C.A., Peters, S., Grossmann, K.S., Drenckhahn, J., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E., Thierfelder, L. Nat. Genet. (2004) [Pubmed]
  6. Functional analysis of C-TAK1 substrate binding and identification of PKP2 as a new C-TAK1 substrate. Müller, J., Ritt, D.A., Copeland, T.D., Morrison, D.K. EMBO J. (2003) [Pubmed]
  7. Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. Mertens, C., Kuhn, C., Franke, W.W. J. Cell Biol. (1996) [Pubmed]
  8. Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2. Mertens, C., Hofmann, I., Wang, Z., Teichmann, M., Sepehri Chong, S., Schnölzer, M., Franke, W.W. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  9. Plakophilin 3--a novel cell-type-specific desmosomal plaque protein. Schmidt, A., Langbein, L., Prätzel, S., Rode, M., Rackwitz, H.R., Franke, W.W. Differentiation (1999) [Pubmed]
  10. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. van Tintelen, J.P., Entius, M.M., Bhuiyan, Z.A., Jongbloed, R., Wiesfeld, A.C., Wilde, A.A., van der Smagt, J., Boven, L.G., Mannens, M.M., van Langen, I.M., Hofstra, R.M., Otterspoor, L.C., Doevendans, P.A., Rodriguez, L.M., van Gelder, I.C., Hauer, R.N. Circulation (2006) [Pubmed]
  11. Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling. Chen, X., Bonne, S., Hatzfeld, M., van Roy, F., Green, K.J. J. Biol. Chem. (2002) [Pubmed]
  12. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Dalal, D., James, C., Devanagondi, R., Tichnell, C., Tucker, A., Prakasa, K., Spevak, P.J., Bluemke, D.A., Abraham, T., Russell, S.D., Calkins, H., Judge, D.P. J. Am. Coll. Cardiol. (2006) [Pubmed]
  13. Advances in the diagnostic management of arrhythmogenic right ventricular dysplasia-cardiomyopathy. Peters, S. Int. J. Cardiol. (2006) [Pubmed]
  14. Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis. Hofmann, I., Mertens, C., Brettel, M., Nimmrich, V., Schnölzer, M., Herrmann, H. J. Cell. Sci. (2000) [Pubmed]
  15. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Pilichou, K., Nava, A., Basso, C., Beffagna, G., Bauce, B., Lorenzon, A., Frigo, G., Vettori, A., Valente, M., Towbin, J., Thiene, G., Danieli, G.A., Rampazzo, A. Circulation (2006) [Pubmed]
  16. Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies. Basso, C., Czarnowska, E., Della Barbera, M., Bauce, B., Beffagna, G., Wlodarska, E.K., Pilichou, K., Ramondo, A., Lorenzon, A., Wozniek, O., Corrado, D., Daliento, L., Danieli, G.A., Valente, M., Nava, A., Thiene, G., Rampazzo, A. Eur. Heart J. (2006) [Pubmed]
  17. Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Awad, M.M., Dalal, D., Tichnell, C., James, C., Tucker, A., Abraham, T., Spevak, P.J., Calkins, H., Judge, D.P. Hum. Mutat. (2006) [Pubmed]
WikiGenes - Universities