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PKP2 Gene

protein-coding   GIFtS: 66
GCID: GC12M032943

Plakophilin 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Plakophilin 21 2
ARVD92 5
plakophilin-22

External Ids:    HGNC: 90241   Entrez Gene: 53182   Ensembl: ENSG000000572947   OMIM: 6028615   UniProtKB: Q999593   

Export aliases for PKP2 gene to outside databases

Previous GC identifers: GC12M033434 GC12M033020 GC12M032844 GC12M032835 GC12M032834 GC12M032696


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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/cardiomyopathy 9, and arrhythmogenic right ventricular dysplasia 9. GO annotations related to this gene include protein complex scaffold and ion channel binding. An important paralog of this gene is PKP1.

UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959
Function: May play a role in junctional plaques

Gene Wiki entry for PKP2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_009714.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PKP2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPKP2 promoter sequence
   Search Chromatin IP Primers for PKP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PKP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p11   Ensembl cytogenetic band:  12p11.21   HGNC cytogenetic band: 12p11

PKP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKP2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M032943:  view genomic region     (about GC identifiers)

Start:
32,943,679 bp from pter      End:
33,049,780 bp from pter
Size:
106,102 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959 (See protein sequence)
Recommended Name: Plakophilin-2  
Size: 881 amino acids; 97415 Da
Subunit: Interacts with DSC2. Interacts with JUP and DSP
1 PDB 3D structure from and Proteopedia for PKP2:
3TT9 (3D)    
Secondary accessions: A0AV37 B8QFA1 B8QGS6 B8QGS7 D3DUW9 Q4VC01 Q99960
Alternative splicing: 2 isoforms:  Q99959-1   Q99959-2   (Major isoform in heart)

Explore the universe of human proteins at neXtProt for PKP2: NX_Q99959

Explore proteomics data for PKP2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PKP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005242.2  NP_004563.2  

    ENSEMBL proteins: 
     ENSP00000342800   ENSP00000070846  

    PKP2 Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for PKP2

    PKP2 Assay Products:

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    Cloud-Clone Corp. CLIAs for PKP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARMC: Armadillo repeat containing

    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR028435 Plakophilin/d_Catenin
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q99959

    ProtoNet protein and cluster: Q99959

    1 Blocks protein domain: IPB000225 Armadillo repeat

    UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959
    Similarity: Belongs to the beta-catenin family
    Similarity: Contains 8 ARM repeats


    PKP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PKP2_HUMAN, Q99959
    Function: May play a role in junctional plaques

         Genatlas biochemistry entry for PKP2:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005080protein kinase C binding IPI18474624
    GO:0005488binding ----
    GO:0005515protein binding IPI10852826
    GO:0017080sodium channel regulator activity ISS--
         
    PKP2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PKP2:
     Increased S DNA content  Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pkp2):
     cardiovascular system  homeostasis/metabolism  mortality/aging  muscle 

    PKP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pkp2tm1Wbm for PKP2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PKP2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PKP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PKP2

    miRNA
    Products:
        
    miRTarBase miRNAs that target PKP2:
    hsa-mir-186-5p (MIRT044957), hsa-mir-222-3p (MIRT046783), hsa-mir-34a-5p (MIRT025489), hsa-mir-744-5p (MIRT037616)

    Block miRNA regulation of human, mouse, rat PKP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PKP2 (see all 15):
    hsa-miR-516b hsa-miR-181c hsa-miR-513a-3p hsa-miR-509-5p hsa-miR-181a hsa-miR-181d hsa-miR-7 hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidPKP2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PKP2

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    GenScript: all cDNA clones in your preferred vector (see first 1): PKP2 (NM_004572  NM_001005242)
    Sino Biological Human cDNA Clone for PKP2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PKP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PKP2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PKP2_HUMAN, Q99959: Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane4
    cytoskeleton3
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS8922383
    GO:0005730NOT nucleolus IDA--
    GO:0005882intermediate filament ISS--
    GO:0005886plasma membrane IDA--
    GO:0005911cell-cell junction ISS--

    PKP2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PKP2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Arrhythmogenic right ventricular cardiomyopathy0.54
    2Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for PKP2
        Cytoskeleton remodeling Keratin filaments

    1 BioSystems Pathway for PKP2
        Arrhythmogenic right ventricular cardiomyopathy



    1 Kegg Pathway  (Kegg details for PKP2):
        Arrhythmogenic right ventricular cardiomyopathy (ARVC)


    PKP2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PKP2: 
              Adherens Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PKP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for PKP2 (Q999592, 3 ENSP000000708464) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MARK3P274482, 3, ENSP000004113974MINT-16617 MINT-16618 I2D: score=2 STRING: ENSP00000411397
    SMAD9O151982, 3MINT-62092 I2D: score=3 
    SFNP319472, 3MINT-3975132 I2D: score=2 
    YWHAZP631042, 3, ENSP000003095034MINT-8006476 I2D: score=2 STRING: ENSP00000309503
    DSC2Q024873, ENSP000002809044I2D: score=2 STRING: ENSP00000280904
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002159desmosome assembly IMP18474624
    GO:0007507heart development ISS--
    GO:0008285negative regulation of cell proliferation ISS--
    GO:0010765positive regulation of sodium ion transport ISS--
    GO:0016264gap junction assembly ISS--

    PKP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PKP2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PKP2 gene (2 alternative transcripts): 
    NM_001005242.2  NM_004572.3  

    Unigene Cluster for PKP2:

    Plakophilin 2
    Hs.164384  [show with all ESTs]
    Unigene Representative Sequence: NM_004572
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340811(uc001rlj.4 uc001rlk.4 uc010skj.2) ENST00000070846
    ENST00000546769 ENST00000549461 ENST00000552612 ENST00000546498 ENST00000546741

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PKP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PKP2 (see all 15):
    hsa-miR-516b hsa-miR-181c hsa-miR-513a-3p hsa-miR-509-5p hsa-miR-181a hsa-miR-181d hsa-miR-7 hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidPKP2 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): PKP2 (NM_004572)
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      QuantiTect SYBR Green Assays in human, mouse, rat PKP2
      QuantiFast Probe-based Assays in human, mouse, rat PKP2

    Additional mRNA sequence: 

    AK299139.1 BC070083.1 BC094762.1 BC126199.1 BC143966.1 BC143967.1 EU520483.1 EU520484.1 
    EU520485.1 EU520486.1 X97675.1 

    9 DOTS entries:

    DT.97773851  DT.448183  DT.40300054  DT.95335949  DT.86841173  DT.100653530  DT.75141910  DT.95213314 
    DT.97802710 

    Selected AceView cDNA sequences (see all 166):

    CF551781 AA115706 BI335875 CD723015 BF063284 BF000586 AU125826 AA699376 
    N56027 AI039176 W86622 AL710066 BG741709 AI871702 AL601426 BM696242 
    C00798 BC070083 BG288041 AI673678 BE540524 AU126827 T69752 AW439621 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PKP2 (see all 6)    About this scheme

    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:                                                                                                                                          


    ECgene alternative splicing isoforms for PKP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PKP2 expression in normal human tissues (normalized intensities)      PKP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGAAGAAGA
    PKP2 Expression
    About this image


    PKP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Heart (Cardiovascular System)
             Cardiac Fibroblasts Myocardium
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
    PKP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PKP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.164384

    UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including PKP2: 
              Adherens Junctions in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PKP2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pkp21 , 5 plakophilin 21, 5 81.13(n)1
    82.64(a)1
      16 (10.09 cM)5
    674511  NM_026163.21  NP_080439.11 
     162133185 
    chicken
    (Gallus gallus)
    Aves PKP21 plakophilin 2 67.07(n)
    63.43(a)
      418130  XM_416362.4  XP_416362.4 
    lizard
    (Anolis carolinensis)
    Reptilia PKP26
    plakophilin 2
    56(a)
    1 ↔ 1
    5(10084262-10129441)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pkp21 plakophilin 2 59.19(n)
    54.79(a)
      100124891  NM_001102842.1  NP_001096312.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pkp21 plakophilin 2 50.13(n)
    40.77(a)
      568060  NM_001113433.1  NP_001106904.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PKP2 gene
    PKP12  CTNND12  PKP32  CTNND22  ARVCF2  PKP42  
    5 SIMAP similar genes for PKP2 using alignment to 3 protein entries:     PKP2_HUMAN (see all proteins):
    PFKM    BIRC5    DKFZp666K083    OK/SW-cl.18    PKP1

    PKP2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PKP2
    PGOHUM00000239632


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PKP2 (see all 2270)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0211504
    Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)4--see VAR_0211502 K Q mis40--------
    VAR_0657164
    Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)4--see VAR_0657162 Y C mis40--------
    VAR_0657114
    Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)4--see VAR_0657112 F S mis40--------
    VAR_0657184
    Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)4--see VAR_0657182 L F mis40--------
    VAR_0211514
    Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)4--see VAR_0211512 C R mis40--------
    VAR_0657054
    Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)4--see VAR_0657052 E K mis40--------
    VAR_0657064
    Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)4--see VAR_0657062 S G mis40--------
    VAR_0211494
    Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)4--see VAR_0211492 S F mis40--------
    rs1461022411,2,,4
    C,Fprobable-non-pathogenic132844443(+) ATGGAC/TCAGTG 4 I V mis12Minor allele frequency- T:0.00NA EU 5873
    rs1512124771,2
    Cuntested132863553(+) GTCTCA/GAACTC 3 R * int1 stg10--------

    HapMap Linkage Disequilibrium report for PKP2 (32943679 - 33049780 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PKP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745751CNV Deletion23290073
    esv4479CNV Deletion18987735
    esv1043456CNV Deletion17803354
    esv2485280CNV Deletion19546169
    esv2745753CNV Deletion23290073
    esv8190CNV Loss19470904
    nsv526287CNV Loss19592680
    nsv516937CNV Loss19592680

    Human Gene Mutation Database (HGMD): PKP2
    Locus Specific Mutation Databases (LSDB): PKP2

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602861   
    OMIM disorders: 609040  
    UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for PKP2 (see all 24):    About MalaCards
    arrhythmogenic right ventricular dysplasia/cardiomyopathy 9    arrhythmogenic right ventricular dysplasia 9    naxos disease    branchiooculofacial syndrome
    arrhythmogenic right ventricular dysplasia    familial isolated arrhythmogenic ventricular dysplasia, biventricular form    familial isolated arrhythmogenic ventricular dysplasia, left dominant form    familial isolated arrhythmogenic ventricular dysplasia, right dominant form
    brugada syndrome    palmoplantar keratosis    arachnoiditis    autosomal dominant disease
    keratosis    ectodermal dysplasia    atopic dermatitis    coronary heart disease
    dermatitis    meningioma    squamous cell carcinoma    hepatocellular carcinoma

    3 diseases from the University of Copenhagen DISEASES database for PKP2:
    Arrhythmogenic right ventricular dysplasia     Branchiooculofacial syndrome     Palmoplantar keratosis

    PKP2 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for PKP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arrhythmogenic right ventricular dysplasia 94.2 20 16567567 (2), 17010805 (2), 16893920 (2), 17041889 (1) (see all 15)
    naxos disease 86.8 1 16893920 (1)
    cardiomyopathy 71.5 12 16567567 (2), 18261826 (2), 17010805 (2), 17413274 (1) (see all 7)
    carcinoma squamous cell 4.45 1 10374264 (1)
    tumors 0 12 12827610 (3), 19551809 (2), 10374264 (1)
    carcinoma 0 2 10374264 (1), 8922383 (1)

    GeneTests: PKP2
    GeneReviews: PKP2
    Genetic Association Database (GAD): PKP2
    Human Genome Epidemiology (HuGE) Navigator: PKP2 (11 documents)

    Export disorders for PKP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for PKP2 gene, integrated from 10 sources (see all 111):
    (articles sorted by number of sources associating them with PKP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients -- disease-causing or innocent bystanders? (PubMed id 19955750)1, 2, 4, 9 Christensen A.H....Svendsen J.H. (Cardiology 2010)
    2. Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. (PubMed id 8922383)1, 2, 3, 9 Mertens C.... Franke W.W. (J. Cell Biol. 1996)
    3. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 20031617)1, 2, 4, 9 den Haan A.D.... Judge D.P. (Circ. Cardiovasc. Genet. 2009)
    4. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PubMed id 19863551)1, 2, 4 Barahona-Dussault C.... Brugada R. (Clin. Genet. 2010)
    5. Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 19427443)1, 4, 9 Qiu X....Zhang L. (Am. J. Cardiol. 2009)
    6. Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues. (PubMed id 10374264)1, 2, 9 Mertens C.... Franke W.W. (Differentiation 1999)
    7. Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. (PubMed id 20031616)1, 4, 9 Bhuiyan Z.A....van Tintelen J.P. (Circ Cardiovasc Genet 2009)
    8. Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy. (PubMed id 19302745)1, 4, 9 Wu S.L....Deng M. (Chin. Med. J. 2009)
    9. Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa. (PubMed id 19880068)1, 4, 9 Watkins D.A....Mayosi B.M. (Heart Rhythm 2009)
    10. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. (PubMed id 15489853)1, 2, 9 Gerull B....Thierfelder L. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 5318 HGNC: 9024 AceView: PKP2 Ensembl:ENSG00000057294 euGenes: HUgn5318
    ECgene: PKP2 Kegg: 5318 H-InvDB: PKP2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PKP2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PKP2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PKP2 gene:
    Search GeneIP for patents involving PKP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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