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Protein Coding Gene : Pkp2 plakophilin 2
Primary Identifier  MGI:1914701 Organism  mouse, laboratory
Chromosome  16 NCBI Gene Number  67451
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable several functions, including alpha-catenin binding activity; cadherin binding activity; and protein kinase C binding activity. Involved in maintenance of protein localization at cell tip. Acts upstream of or within cell-cell adhesion and heart development. Located in desmosome; intercalated disc; and intermediate filament. Is expressed in brain; cardiac muscle tissue; and telencephalon. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and arrhythmogenic right ventricular dysplasia 9. Orthologous to human PKP2 (plakophilin 2).
PHENOTYPE: Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. [provided by MGI curators]
  • synonyms:
  • MGI:1918991,
  • Pkp2l,
  • MGI:2146346,
  • AA516617,
  • 1200012P04Rik,
  • plakophilin 2,
  • 1200008D14Rik,
  • MGI:1328349,
  • plakophilin 2-like,
  • RIKEN cDNA 1200008D14 gene,
  • expressed sequence AA516617,
  • Pkp2,
  • RIKEN cDNA 1200012P04 gene
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