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FLASH GENE

Symbol

PKP2

contributors: mct - updated : 23-11-2015

HGNC name	plakophilin 2
HGNC id	9024

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001005242 13 splicing 4307 NP_001005242 92.8 837 major isoform expressed in human heart tissue 2011 21378009 PKP2A nine complete copies of the armadillo motif NM_004572 14 splicing 4439 NP_004563 97.4 881 undetectable 2011 21378009 PKP2B

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive intestine       highly Endocrine parathyroid       highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte Blood/Hematopoietic leukocyte

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