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FLASH GENE
Symbol PKP2 contributors: mct - updated : 23-11-2013
HGNC name plakophilin 2
HGNC id 9024
Corresponding disease
ARVD9 arrhythmogenic right ventricular dysplasia, familial, 9
Location 12p11.21      Physical location : 32.943.681 - 33.049.780
Synonym symbol(s) MGC177501, ARVD9
DNA
TYPE functioning gene
STRUCTURE 106.10 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
IPO8 12p12.1 importin 8 C1QDC1 12p11 C1q domain containing 1 LOC390299 12 similar to Peptidylprolyl isomerase A (cyclophilin A) LOC390300 12 similar to RIKEN cDNA 1110014F12 DDX11 12p11 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae) DKFZp434C0631 12p11.22 hypothetical protein DKFZp434C0631 LOC387850 12 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein TERA FLJ13224 12p11.22 hypothetical protein FLJ13224 MGC24039 12p11.22 hypothetical protein MGC24039 MRPL30P2 12p11.2 hypothetical protein MGC24039 LOC341356 12p11.22 similar to ribosomal protein L31 LOC387851 12 similar to Adenylate kinase isoenzyme 4, mitochondrial (ATP-AMP transphosphorylase) MGC50559 12p11.22 hypothetical protein MGC50559 LOC196394 12p11.22 hypothetical protein LOC196394 LOC144383 12p11.22 similar to Interferon-induced transmembrane protein 3 (Interferon-inducible protein 1-8U) LOC283342 12p11.22 similar to H3 histone, family 3B FLJ10652 12p11.22 hypothetical protein FLJ10652 BICD1 12p11.2-p11.1 Bicaudal D homolog 1 (Drosophila) FGD4 12p11.22-p11.21 FGD1 family, member 4 DNM1L q13.11-q14.3 dynamin 1-like CGI-04 12p11.21 CGI-04 protein PKP2 12p11 plakophilin 2 LOC283343 12p11.21 similar to argininosuccinate synthetase SYT10 12 synaptotagmin X LOC390301 12 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein ALG10 12p11.21 asparagine-linked glycosylation 10 homolog (yeast, alpha-1,2-glucosyltransferase) LOC144631 12p11.21 hypothetical LOC144631 LOC260338 12p11.21 HSA12cenq11 beta-tubulin 4Q (TUBB4Q) pseudogene LOC390303 12 similar to double homeobox, 4; double homeobox protein 4
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
  • 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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARVD9
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS