Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Pkp2. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of July 9, 2012. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Pkp2
  • is located in the following cellular components:
    • cell-cell junction ^[5]
    • desmosome ^{[1, 4]}
    • intercalated disc ^[2]
    • intermediate filament ^[6]
• The gene product of Pkp2 has been shown to bind to the gene products of Ctnnb1. ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Pkp2
  • participates in the following biological processes:
    • cell-cell adhesion ^[3]
    • heart development ^[3]
  • is located in the following cellular components:
    • adherens junction ^[3]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Pkp2:
  • participates in the following biological processes:
    • adherens junction maintenance
    • bundle of His cell to Purkinje myocyte communication
    • cell-cell signaling involved in cardiac conduction
    • desmosome assembly
    • gap junction assembly
    • intermediate filament bundle assembly
    • lipid homeostasis
    • maintenance of organ identity
    • negative regulation of cell migration
    • negative regulation of cell proliferation
    • regulation of cardiac muscle cell action potential
    • regulation of cardiac muscle cell action potential involved in contraction
    • regulation of heart rate by cardiac conduction
    • regulation of tight junction assembly
    • regulation of ventricular cardiac muscle cell action potential
    • ventricular cardiac muscle tissue morphogenesis
  • performs the following molecular functions:
    • intermediate filament binding
    • protein complex scaffold
    • protein kinase C binding
  • is located in the following cellular components:
    • adherens junction
    • intercalated disc

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References

1. Gallicano GI et al. (1998) Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol, 143:2009-22. (PubMed:9864371)
2. Goossens S et al. (2007) 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, 120:2126-36. (PubMed:17535849)
3. Grossmann KS et al. (2004) Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol, 167:149-60. (PubMed:15479741)
4. Romano RA et al. (2012) DeltaNp63 knockout mice reveal its indispensable role as a master regulator of epithelial development and differentiation. Development, 139:772-82. (PubMed:22274697)
5. Thomas NM et al. (2011) Sex differences in expression and subcellular localization of heart rhythm determinant proteins. Biochem Biophys Res Commun, 406:117-22. (PubMed:21296051)
6. Yang Z et al. (2006) Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res, 99:646-55. (PubMed:16917092)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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