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FLASH GENE
Symbol PKP2 contributors: mct - updated : 23-11-2015
HGNC name plakophilin 2
HGNC id 9024
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 splicing 4307 92.8 837 major isoform expressed in human heart tissue 2011 21378009
  • PKP2A
  • nine complete copies of the armadillo motif
  • 14 splicing 4439 97.4 881 undetectable 2011 21378009
  • PKP2B
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveintestine   highly
    Endocrineparathyroid   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES basic
    STRUCTURE
    motifs/domains
  • a N terminal head domain including a potential coiled-coil forming alpha-helix segment, and head domains of PKP1 and PKP2 were sufficient to bind single-stranded DNA
  • a central domain with ten repeats of the Armadillo motif
  • a C terminal tail domain
  • HOMOLOGY
    interspecies homolog to Drosophila Armadillo segment polarity gene
    Homologene
    FAMILY
  • armadillo protein family
  • beta-catenin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,adherens
    plasma membrane,junction,desmosome
        intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus
    text
  • localize to the cytoplasmic plaque of intercellular junctions
  • basic FUNCTION
  • essential armadillo repeat protein of the cardiac desmosome, playing a role in junctional plaque
  • regulating the signaling activity of beta-catenin
  • playing an important role for the assembly of junctional proteins and representing an essential morphogenic factor and architectural component of the heart
  • governs DSP assembly dynamics by scaffolding a DSP-PKP2-protein kinase C alpha (PRKCA) complex
  • in addition to mediating desmosome assembly, the nuclear pool of PKP1, PKP2 can influence cell survival by interactions with DNA
  • is a major protein of adherens junctions in cardiac myxomata
  • PKP2 and CTTNBP2NL function in gap junction communication and influence embryo implantation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of karyoplasm and desmosomal plaque protein of desmosomes in stratified epithelia
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to desmoplakin, plakoglobin, desmoglein 1 and 2 and desmocollin 1a and 2a
  • binding of CTNNA3 to plakophilin-2 is proposed to be a means of modulating and strengthening cell-cell adhesion between cardiac muscle cells
  • associates with DSP in plaque precursors that form in the cytoplasm and translocate to nascent desmosomes
  • may functionally link RHOA- and PKC-dependent pathways to drive actin reorganization and regulate desmoplakin
  • interactions required for normal desmosome assembly
  • binding of PKP1/3 to FXR1 was RNA independent, and both PKP3 and FXR1 stabilized PKP2 mRNA
  • juxtamembrane region of DSC2 and PKP2, PKP3 are involved in the desmosomal plaque formation, possibly through the interaction between this region and plakophilins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARVD9
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS