PKP2 (plakophilin 2)

2012-03-01  

Identity

HGNC
LOCATION
12p11.21
LOCUSID
ALIAS
ARVD9
FUSION GENES

Other Information

Locus ID:

NCBI: 5318
MIM: 602861
HGNC: 9024
Ensembl: ENSG00000057294

Variants:

dbSNP: 5318
ClinVar: 5318
TCGA: ENSG00000057294
COSMIC: PKP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000057294ENST00000070846Q99959
ENSG00000057294ENST00000340811Q99959
ENSG00000057294ENST00000546741A0A087WXY2

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA134871907TMEM43GeneDataAnnotationassociated
PA27489DSC2GeneDataAnnotationassociated
PA27502DSG2GeneDataAnnotationassociated
PA27505DSPGeneDataAnnotationassociated
PA446847Arrhythmogenic Right Ventricular DysplasiaDiseaseDataAnnotation, Literature, MultilinkAnnotationassociated23788249

References

Pubmed IDYearTitleCitations
154898532004Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.172
243525202014Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.99
165675672006Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.95
242760852014The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy.85
117907732002Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling.76
184746242008Plakophilin 2: a critical scaffold for PKC alpha that regulates intercellular junction assembly.66
200316172009Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.61
164153782006Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy.49
165496402006Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.48
204004432010Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.48

Citation

Dessen P

PKP2 (plakophilin 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52640/pkp2