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Aliases for PKP2 Gene

Aliases for PKP2 Gene

  • Plakophilin 2 2 3 5
  • ARVD9 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 familial isolated arrhythmogenic ventricular dysplasia, right dominant form. Among its related pathways are Hypertrophic cardiomyopathy (HCM) and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include binding and protein kinase C binding. An important paralog of this gene is CTNND1.

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

Regulatory Elements for PKP2 Gene

Enhancers for PKP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PKP2 on UCSC Golden Path with GeneCards custom track

Promoters for PKP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PKP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PKP2 Gene

Chromosome:
12
Start:
32,790,745 bp from pter
End:
32,896,846 bp from pter
Size:
106,102 bases
Orientation:
Minus strand

Genomic View for PKP2 Gene

Genes around PKP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKP2 Gene

Proteins for PKP2 Gene

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

    Protein Symbol:
    Q99959-PKP2_HUMAN
    Recommended name:
    Plakophilin-2
    Protein Accession:
    Q99959
    Secondary Accessions:
    • A0AV37
    • B8QFA1
    • B8QGS6
    • B8QGS7
    • D3DUW9
    • Q4VC01
    • Q99960

    Protein attributes for PKP2 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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 & Families for PKP2 Gene

Gene Families for PKP2 Gene

Protein Domains for PKP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q99959

UniProtKB/Swiss-Prot:

PKP2_HUMAN :
  • Belongs to the beta-catenin family.
  • Contains 8 ARM repeats.
Family:
  • Belongs to the beta-catenin family.
Similarity:
  • 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:0005515 protein binding IEA,IPI 10852826
genes like me logo Genes that share ontologies with PKP2: view
genes like me logo Genes that share phenotypes with PKP2: view

Human Phenotype Ontology for PKP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PKP2 Gene

MGI Knock Outs for PKP2:

Animal Model Products

miRNA for PKP2 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

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

Gene Ontology (GO) - Cellular Components for PKP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 20859650
GO:0030057 desmosome IEA,NAS 8922383
genes like me logo Genes that share ontologies with PKP2: view

Pathways & Interactions 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

Gene Ontology (GO) - Biological Process for PKP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002159 desmosome assembly IMP 18474624
GO:0008285 negative regulation of cell proliferation ISS --
GO:0010765 positive regulation of sodium ion transport ISS --
GO:0016337 single organismal cell-cell adhesion IEA,NAS 8922383
GO:0030336 negative regulation of cell migration ISS --
genes like me logo Genes that share ontologies with PKP2: view

No data available for SIGNOR curated interactions for PKP2 Gene

Drugs & Compounds for PKP2 Gene

No Compound Related Data Available

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: -
SP4:
SP5:
SP6: -

Relevant External Links for PKP2 Gene

GeneLoc Exon Structure for
PKP2
ECgene alternative splicing isoforms for
PKP2

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 (x19.8) and Heart - Atrial Appendage (x7.9).

Protein differential expression in normal tissues from HIPED for PKP2 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q99959-PKP2_HUMAN
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 expression patterns with PKP2: view

Protein tissue co-expression partners for PKP2 Gene

Primer 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
cow
(Bos Taurus)
Mammalia PKP2 35
  • 87.83 (n)
  • 88.27 (a)
PKP2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PKP2 35
  • 88.72 (n)
  • 89.71 (a)
PKP2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pkp2 35
  • 81.13 (n)
  • 82.64 (a)
Pkp2 16
Pkp2 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PKP2 35
  • 98.81 (n)
  • 98.45 (a)
PKP2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pkp2 35
  • 80.92 (n)
  • 83.4 (a)
oppossum
(Monodelphis domestica)
Mammalia PKP2 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 77 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves PKP2 35
  • 67.07 (n)
  • 63.43 (a)
PKP2 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PKP2 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pkp2 35
  • 59.19 (n)
  • 54.79 (a)
zebrafish
(Danio rerio)
Actinopterygii pkp2 35
  • 50.13 (n)
  • 40.77 (a)
pkp2 36
  • 36 (a)
OneToOne
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

ENSEMBL:
Gene Tree for PKP2 (if available)
TreeFam:
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.org 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
rs150821281 - 32,878,461(+) TCAAG(A/G)ACCTT reference, missense
VAR_021149 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)
VAR_021150 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)
VAR_021151 Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)
rs1046116 - 32,869,000(-) CATGC(C/T)GCCAT reference, missense

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

Variation tolerance for PKP2 Gene

Residual Variation Intolerance Score: 81.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.19; 75.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PKP2 Gene

HapMap Linkage Disequilibrium report
PKP2
Human Gene Mutation Database (HGMD)
PKP2

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

Disorders for PKP2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PKP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular dysplasia 9
  • arvd9
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
familial isolated arrhythmogenic ventricular dysplasia, biventricular form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form
familial isolated arrhythmogenic ventricular dysplasia, left dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
arrhythmogenic right ventricular dysplasia/cardiomyopathy 9
  • arvd9
- elite association - COSMIC cancer census association via MalaCards
Search PKP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PKP2_HUMAN
  • 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.

Relevant External Links for PKP2

Genetic Association Database (GAD)
PKP2
Human Genome Epidemiology (HuGE) Navigator
PKP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PKP2
genes like me logo Genes that share disorders with PKP2: view

No data available for Genatlas for PKP2 Gene

Publications for PKP2 Gene

  1. 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 67
  2. 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 23
  3. Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy. (PMID: 19302745) Wu S.L. … Deng M. (Chin. Med. J. 2009) 3 23
  4. Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PMID: 19427443) Qiu X. … Zhang L. (Am. J. Cardiol. 2009) 3 23
  5. Upregulation of plakophilin-2 and its acquisition to adherens junctions identifies a novel molecular ensemble of cell-cell-attachment characteristic for transformed mesenchymal cells. (PMID: 19551809) Rickelt S. … Franke W.W. (Int. J. Cancer 2009) 3 23

Products for PKP2 Gene

Sources for PKP2 Gene

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