PKP2

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Plakophilin 2
Identifiers
Symbols PKP2 ; ARVD9
External IDs OMIM: 602861 MGI1914701 HomoloGene3364
RNA expression pattern
File:PBB GE PKP2 207717 s at tn.png
File:PBB GE PKP2 214154 s at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 5318
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 67451

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000057294
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000041957

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q99959
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_001005242 (mRNA)
NP_001005242 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_026163 (mRNA)
NP_080439 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 12: 32.83 - 32.94 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 16: 16.13 -  16.19 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Plakophilin 2, also known as PKP2, is a human gene.[1]

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.[1]

References

  1. 1.0 1.1 "Entrez Gene: PKP2 plakophilin 2".

Further reading

  • Mertens C, Kuhn C, Franke WW (1997). "Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque". J. Cell Biol. 135 (4): 1009–25. PMID 8922383.
  • Bonné S, van Hengel J, van Roy F (1998). "Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily". Genomics. 51 (3): 452–4. doi:10.1006/geno.1998.5398. PMID 9721216.
  • Mertens C, Kuhn C, Moll R; et al. (1999). "Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues". Differentiation. 64 (5): 277–90. PMID 10374264.
  • Schmidt A, Langbein L, Prätzel S; et al. (1999). "Plakophilin 3--a novel cell-type-specific desmosomal plaque protein". Differentiation. 64 (5): 291–306. PMID 10374265.
  • Bonné S, van Hengel J, van Roy F (2000). "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". Cytogenet. Cell Genet. 88 (3–4): 286–7. PMID 10828611.
  • Hofmann I, Mertens C, Brettel M; et al. (2000). "Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis". J. Cell. Sci. 113 ( Pt 13): 2471–83. PMID 10852826.
  • Mertens C, Hofmann I, Wang Z; et al. (2001). "Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2". Proc. Natl. Acad. Sci. U.S.A. 98 (14): 7795–800. doi:10.1073/pnas.141219498. PMID 11416169.
  • Chen X, Bonne S, Hatzfeld M; et al. (2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". J. Biol. Chem. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID 11790773.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Müller J, Ritt DA, Copeland TD, Morrison DK (2003). "Functional analysis of C-TAK1 substrate binding and identification of PKP2 as a new C-TAK1 substrate". EMBO J. 22 (17): 4431–42. doi:10.1093/emboj/cdg426. PMID 12941695.
  • Colland F, Jacq X, Trouplin V; et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMID 15231748.
  • Jin J, Smith FD, Stark C; et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–50. doi:10.1016/j.cub.2004.07.051. PMID 15324660.
  • Gerull B, Heuser A, Wichter T; et al. (2004). "Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy". Nat. Genet. 36 (11): 1162–4. doi:10.1038/ng1461. PMID 15489853.
  • Benzinger A, Muster N, Koch HB; et al. (2005). "Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer". Mol. Cell Proteomics. 4 (6): 785–95. doi:10.1074/mcp.M500021-MCP200. PMID 15778465.
  • Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
  • Syrris P, Ward D, Asimaki A; et al. (2006). "Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy". Circulation. 113 (3): 356–64. doi:10.1161/CIRCULATIONAHA.105.561654. PMID 16415378.
  • Dalal D, Molin LH, Piccini J; et al. (2006). "Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2". Circulation. 113 (13): 1641–9. doi:10.1161/CIRCULATIONAHA.105.568642. PMID 16549640.
  • van Tintelen JP, Entius MM, Bhuiyan ZA; et al. (2006). "Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy". Circulation. 113 (13): 1650–8. doi:10.1161/CIRCULATIONAHA.105.609719. PMID 16567567.
  • Kannankeril PJ, Bhuiyan ZA, Darbar D; et al. (2007). "Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family". Heart rhythm : the official journal of the Heart Rhythm Society. 3 (8): 939–44. doi:10.1016/j.hrthm.2006.04.028. PMID 16876743.
  • Dalal D, James C, Devanagondi R; et al. (2006). "Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy". J. Am. Coll. Cardiol. 48 (7): 1416–24. doi:10.1016/j.jacc.2006.06.045. PMID 17010805.

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