Gene Symbol: Pkp2
Description: plakophilin 2
Alias: 1200008D14Rik, 1200012P04Rik, AA516617, Pkp2l, plakophilin-2
Species: mouse
Products:     Pkp2

Top Publications

  1. Gallicano G, Kouklis P, Bauer C, Yin M, Vasioukhin V, Degenstein L, et al. Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol. 1998;143:2009-22 pubmed
  2. Yang Z, Bowles N, Scherer S, Taylor M, Kearney D, Ge S, et al. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res. 2006;99:646-55 pubmed 6 genes, including 4 encoding desmosomal proteins (Junctional plakoglobin (JUP), Desmoplakin (DSP), Plakophilin 2, and Desmoglein 2), have been identified in patients with ARVD/C...
  3. Seeger T, Frank D, Rohr C, Will R, Just S, Grund C, et al. Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo. Circ Res. 2010;106:880-90 pubmed publisher
    ..Moreover, its subcellular localization and the observation of a severe cardiac phenotype in zebrafish, implicate Myozap in the pathogenesis of cardiomyopathy. ..
  4. Thomas N, Jasmin J, Lisanti M, Iacobas D. Sex differences in expression and subcellular localization of heart rhythm determinant proteins. Biochem Biophys Res Commun. 2011;406:117-22 pubmed publisher
    ..These studies extend our previous findings in microarray studies to demonstrate that sex differences in gene expression are likely to confer distinct functional properties on male and female myocardium. ..
  5. Sugimoto M, Sasaki S, Gotoh Y, Nakamura Y, Aoyagi Y, Kawahara T, et al. Genetic variants related to gap junctions and hormone secretion influence conception rates in cows. Proc Natl Acad Sci U S A. 2013;110:19495-500 pubmed publisher
    ..Two of them contained gap junction-related genes: PKP2 and CTTNBP2NL...
  6. Ragni C, Diguet N, Le Garrec J, Novotova M, Resende T, Pop S, et al. Amotl1 mediates sequestration of the Hippo effector Yap1 downstream of Fat4 to restrict heart growth. Nat Commun. 2017;8:14582 pubmed publisher
    ..This work uncovers a mechanism for the restriction of heart growth at birth, a process which impedes the regenerative potential of the mammalian heart. ..
  7. Grossmann K, Grund C, Huelsken J, Behrend M, Erdmann B, Franke W, et al. Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol. 2004;167:149-60 pubmed
    ..We have ablated the plakophilin 2 gene in mice...
  8. Goossens S, Janssens B, Bonne S, De Rycke R, Braet F, van Hengel J, et al. A unique and specific interaction between alphaT-catenin and plakophilin-2 in the area composita, the mixed-type junctional structure of cardiac intercalated discs. J Cell Sci. 2007;120:2126-36 pubmed
    ..This could explain the devastating effect of plakophilin-2 mutations on cell junction stability in intercalated discs, which lead to cardiac muscle malfunction. ..
  9. Cerrone M, Noorman M, Lin X, Chkourko H, Liang F, van der Nagel R, et al. Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency. Cardiovasc Res. 2012;95:460-8 pubmed publisher
    ..Whether pkp2 gene haploinsufficiency leads to I(Na) deficit in vivo remains undefined...

More Information


  1. Cerrone M, Lin X, Zhang M, Agullo Pascual E, Pfenniger A, Chkourko Gusky H, et al. Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. Circulation. 2014;129:1092-103 pubmed publisher
    ..Experimental models showed correlation between the loss of expression of desmosomal protein plakophilin-2 (PKP2) and reduced INa...
  2. Dubash A, Kam C, Aguado B, Patel D, Delmar M, Shea L, et al. Plakophilin-2 loss promotes TGF-β1/p38 MAPK-dependent fibrotic gene expression in cardiomyocytes. J Cell Biol. 2016;212:425-38 pubmed publisher
    ..In this study, we provide evidence that loss of the desmosomal armadillo protein Plakophilin-2 (PKP2) in cardiomyocytes elevates transforming growth factor β1 (TGF-β1) and p38 mitogen-activated protein kinase (MAPK)..
  3. Moncayo Arlandi J, Guasch E, Sanz de la Garza M, Casado M, Garcia N, Mont L, et al. Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model. Hum Mol Genet. 2016;25:3676-3688 pubmed publisher
    ..Mutations in the desmosomal gene Plakophilin-2 (PKP2) accounts for?>40% of all known mutations, generally causing a truncated protein...
  4. Gurha P, Chen X, Lombardi R, Willerson J, Marian A. Knockdown of Plakophilin 2 Downregulates miR-184 Through CpG Hypermethylation and Suppression of the E2F1 Pathway and Leads to Enhanced Adipogenesis In Vitro. Circ Res. 2016;119:731-50 pubmed publisher
    PKP2, encoding plakophilin 2 (PKP2), is the most common causal gene for arrhythmogenic cardiomyopathy. To characterize miRNA expression profile in PKP2-deficient cells...
  5. Cerrone M, Montnach J, Lin X, Zhao Y, Zhang M, Agullo Pascual E, et al. Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm. Nat Commun. 2017;8:106 pubmed publisher
    ..It is believed that mutations in desmosomal adhesion complex protein plakophilin 2 (PKP2) cause arrhythmia due to loss of cell-cell communication...