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Aliases for PKP2 Gene

Aliases for PKP2 Gene

  • Plakophilin 2 2 3
  • ARVD9 3 6
  • Plakophilin-2 3

External Ids for PKP2 Gene

Previous GeneCards Identifiers for PKP2 Gene

  • GC12M033434
  • GC12M033020
  • GC12M032844
  • GC12M032835
  • GC12M032834
  • GC12M032943
  • GC12M032696

Summaries for PKP2 Gene

Entrez Gene Summary for PKP2 Gene

  • This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]

GeneCards Summary for PKP2 Gene

PKP2 (Plakophilin 2) is a Protein Coding gene. Diseases associated with PKP2 include arrhythmogenic right ventricular dysplasia 9 and arrhythmogenic right ventricular dysplasia/cardiomyopathy 9. Among its related pathways are Hypertrophic cardiomyopathy (HCM) and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include ion channel binding and protein complex scaffold. An important paralog of this gene is PKP3.

UniProtKB/Swiss-Prot for PKP2 Gene

  • May play a role in junctional plaques.

Gene Wiki entry for PKP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKP2 Gene

Genomics for PKP2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PKP2 Gene

32,790,745 bp from pter
32,896,846 bp from pter
106,102 bases
Minus strand

Genomic View for PKP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PKP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKP2 Gene

No data available for Regulatory Elements for PKP2 Gene

Proteins for PKP2 Gene

  • Protein details for PKP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A0AV37
    • B8QFA1
    • B8QGS6
    • B8QGS7
    • D3DUW9
    • Q4VC01
    • Q99960

    Protein attributes for PKP2 Gene

    881 amino acids
    Molecular mass:
    97415 Da
    Quaternary structure:
    • Interacts with DSC2. Interacts with JUP and DSP.

    Three dimensional structures from OCA and Proteopedia for PKP2 Gene

    Alternative splice isoforms for PKP2 Gene


neXtProt entry for PKP2 Gene

Proteomics data for PKP2 Gene at MOPED

Post-translational modifications for PKP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PKP2 Gene

Antibody Products

No data available for DME Specific Peptides for PKP2 Gene

Domains for PKP2 Gene

Gene Families for PKP2 Gene

Protein Domains for PKP2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the beta-catenin family.
  • Contains 8 ARM repeats.
  • Belongs to the beta-catenin family.
  • Contains 8 ARM repeats.
genes like me logo Genes that share domains with PKP2: view

Function for PKP2 Gene

Molecular function for PKP2 Gene

GENATLAS Biochemistry:
plakophilin 2,component of karyoplasm and desmosomal plaque protein of desmosomes in stratified epithelia,also expressed in the nucleus of non epithelial cells, homologous to Drosophila Armadillo segment polarity gene
UniProtKB/Swiss-Prot Function:
May play a role in junctional plaques.

Gene Ontology (GO) - Molecular Function for PKP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005080 protein kinase C binding IPI 18474624
GO:0005488 binding --
GO:0005515 protein binding IPI 10852826
GO:0017080 sodium channel regulator activity ISS --
genes like me logo Genes that share ontologies with PKP2: view
genes like me logo Genes that share phenotypes with PKP2: view

Animal Models for PKP2 Gene

MGI Knock Outs for PKP2:

miRNA for PKP2 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PKP2 Gene

Localization for PKP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKP2 Gene

Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes.

Subcellular locations from

Jensen Localization Image for PKP2 Gene COMPARTMENTS Subcellular localization image for PKP2 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytoskeleton 3
cytosol 3

Gene Ontology (GO) - Cellular Components for PKP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 8922383
GO:0005654 nucleoplasm IDA --
GO:0005882 intermediate filament ISS --
GO:0005886 plasma membrane IDA 20859650
GO:0005911 cell-cell junction ISS --
genes like me logo Genes that share ontologies with PKP2: view

Pathways for PKP2 Gene

genes like me logo Genes that share pathways with PKP2: view

Pathways by source for PKP2 Gene

1 GeneGo (Thomson Reuters) pathway for PKP2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PKP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002159 desmosome assembly IMP 18474624
GO:0007507 heart development ISS --
GO:0008285 negative regulation of cell proliferation ISS --
GO:0010765 positive regulation of sodium ion transport ISS --
GO:0016264 gap junction assembly ISS --
genes like me logo Genes that share ontologies with PKP2: view

Transcripts for PKP2 Gene

Unigene Clusters for PKP2 Gene

Plakophilin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PKP2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b
SP1: - - - -
SP2: - - - - -
SP3: -
SP6: -

Relevant External Links for PKP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PKP2 Gene

mRNA expression in normal human tissues for PKP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKP2 Gene

This gene is overexpressed in Heart - Left Ventricle (19.8) and Heart - Atrial Appendage (7.9).

Protein differential expression in normal tissues for PKP2 Gene

This gene is overexpressed in Heart (35.9), Fetal heart (11.0), and Salivary gland (6.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PKP2 Gene

SOURCE GeneReport for Unigene cluster for PKP2 Gene Hs.164384

mRNA Expression by UniProt/SwissProt for PKP2 Gene

Tissue specificity: Detected in heart right ventricle (at protein level). Widely expressed. Found at desmosomal plaques in simple and stratified epithelia and in non-epithelial tissues such as myocardium and lymph node follicles. In most stratified epithelia found in the desmosomes of the basal cell layer and seems to be absent from suprabasal strata.
genes like me logo Genes that share expressions with PKP2: view

Expression partners for PKP2 Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for PKP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PKP2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PKP2 35
  • 87.83 (n)
  • 88.27 (a)
PKP2 36
  • 87 (a)
(Canis familiaris)
Mammalia PKP2 35
  • 88.72 (n)
  • 89.71 (a)
PKP2 36
  • 90 (a)
(Mus musculus)
Mammalia Pkp2 35
  • 81.13 (n)
  • 82.64 (a)
Pkp2 16
Pkp2 36
  • 82 (a)
(Pan troglodytes)
Mammalia PKP2 35
  • 98.81 (n)
  • 98.45 (a)
PKP2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Pkp2 35
  • 80.92 (n)
  • 83.4 (a)
(Monodelphis domestica)
Mammalia PKP2 36
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 77 (a)
-- 36
  • 84 (a)
(Gallus gallus)
Aves PKP2 35
  • 67.07 (n)
  • 63.43 (a)
PKP2 36
  • 53 (a)
(Anolis carolinensis)
Reptilia PKP2 36
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pkp2 35
  • 59.19 (n)
  • 54.79 (a)
(Danio rerio)
Actinopterygii pkp2 35
  • 50.13 (n)
  • 40.77 (a)
pkp2 36
  • 36 (a)
Species with no ortholog for PKP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PKP2 Gene

Gene Tree for PKP2 (if available)
Gene Tree for PKP2 (if available)

Paralogs for PKP2 Gene

Paralogs for PKP2 Gene

(5) SIMAP similar genes for PKP2 Gene using alignment to 3 proteins: Pseudogenes for PKP2 Gene

genes like me logo Genes that share paralogs with PKP2: view

Variants for PKP2 Gene

Sequence variations from dbSNP and Humsavar for PKP2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs9394 -- 32,791,612(-) AACAA(C/T)GCCGT utr-variant-3-prime
rs10022 -- 32,863,450(-) TTATT(A/G)ATTTT intron-variant
rs12612 -- 32,792,173(-) TGGTA(C/G)ATGGC utr-variant-3-prime
rs994713 -- 32,836,091(+) TTTTC(C/T)TCTCC intron-variant
rs1005866 -- 32,886,133(-) CACGG(C/T)TGTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PKP2 Gene

Variant ID Type Subtype PubMed ID
esv2485280 CNV Deletion 19546169
esv4479 CNV Deletion 18987735
esv8190 CNV Loss 19470904
esv2745751 CNV Deletion 23290073
esv1043456 CNV Deletion 17803354
nsv516937 CNV Loss 19592680
nsv526287 CNV Loss 19592680
esv2745753 CNV Deletion 23290073

Relevant External Links for PKP2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKP2 Gene

Disorders for PKP2 Gene

(1) OMIM Diseases for PKP2 Gene (602861)


  • Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269 PubMed:15489853, ECO:0000269 PubMed:19863551, ECO:0000269 PubMed:20031617, ECO:0000269 PubMed:22781308}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for PKP2 Gene

Disease -log(P) Hits PubMed IDs
arrhythmogenic right ventricular dysplasia 94.2 18
naxos disease 86.8 1
cardiomyopathy 71.5 10
carcinoma squamous cell 4.45 1
tumors 0 6

Relevant External Links for PKP2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with PKP2: view

No data available for Genatlas for PKP2 Gene

Publications for PKP2 Gene

  1. Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. (PMID: 8922383) Mertens C. … Franke W.W. (J. Cell Biol. 1996) 2 3 4 23
  2. Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients -- disease-causing or innocent bystanders? (PMID: 19955750) Christensen A.H. … Svendsen J.H. (Cardiology 2010) 3 4 23 48
  3. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PMID: 20031617) den Haan A.D. … Judge D.P. (Circ. Cardiovasc. Genet. 2009) 3 4 23 48
  4. Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa. (PMID: 19880068) Watkins D.A. … Mayosi B.M. (Heart Rhythm 2009) 3 23 48
  5. Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. (PMID: 20031616) Bhuiyan Z.A. … van Tintelen J.P. (Circ Cardiovasc Genet 2009) 3 23 48

Products for PKP2 Gene

Sources for PKP2 Gene

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