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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PKP2 Gene

protein-coding   GIFtS: 66
GCID: GC12M032943

Plakophilin 2
  20 related diseases
at
MalaCards
 

Aliases
for PKP2 gene

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


Summaries
for PKP2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 familial isolated arrhythmogenic ventricular dysplasia, biventricular form, and arrhythmogenic right ventricular dysplasia/cardiomyopathy 9, and among its related super-pathways are Hypertrophic cardiomyopathy (HCM) and Cytoskeleton remodeling Keratin filaments. GO annotations related to this gene include protein kinase C binding and molecular_function. 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009714.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PKP2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PKP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PKP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PKP2 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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
Subcellular location: Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes
1 PDB 3D structure from and Proteopedia for PKP2:
3TT9 (3D)    
Secondary accessions: A0AV37 D3DUW9 Q4VC01 Q99960
Alternative splicing: 2 isoforms:  Q99959-1   Q99959-2   

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

Explore proteomics data for PKP2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99959

    • PKP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PKP2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001005242.2  NP_004563.2  

    ENSEMBL proteins: 
     ENSP00000342800   ENSP00000070846  

    Human Recombinant Protein Products for PKP2: 
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    Novus Biologicals PKP2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PKP2 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS8922383
    GO:0005882intermediate filament ISS--
    GO:0005886plasma membrane TAS8922383
    GO:0005911cell-cell junction ISS--
    GO:0005912adherens junction ISS--

    PKP2 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for PKP2 

    Assay Products for PKP2: 
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    Protein Domains /
    Families
    for PKP2 gene

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

    3 InterPro protein domains:
     IPR011989 ARM-like
     IPR000225 Armadillo
     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


    Function
    for PKP2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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): 5/8 molecular function terms (GO ID links to tree view) (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:
         Mouse knock-out Pkp2tm1Wbm for PKP2
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PKP2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PKP2

    miRNA
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    8/15 QIAGEN miScript miRNA 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 plasmid: PKP2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for PKP2 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PKP2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    		Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    		Arrhythmogenic right ventricular cardiomyopathy0.53
    2Cytoskeleton remodeling Keratin filaments
    		Cytoskeleton remodeling Keratin filaments0.91

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PKP2
        Cytoskeleton remodeling Keratin filaments


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PKP2

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

    5/69 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): 5/20 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for PKP2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PKP2

    Search CenterWatch for drugs/clinical trials and news about PKP2

    Transcripts
    for PKP2 gene

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PKP2
    8/15 QIAGEN miScript miRNA 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 plasmid: PKP2 3' UTR sequence
    Inhib. RNA
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    Clone
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    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 

    24/166 AceView cDNA sequences (see all 166):

    CD723015 AL710066 BI335875 CF551781 AA115706 BF063284 BF000586 AU125826 
    AA699376 N56027 AI039176 W86622 BE540524 AI383723 BG252206 AI159789 
    AI368931 AL601426 BM977349 AI673678 AU125339 AA203430 AI871702 BU685504 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for PKP2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/3 selected tissues (see all 3) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiac Fibroblasts Myocardium
             atrial myocardium
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
             PureStem Progenitor ES-139

     -- (Gastrointestinal Tract)
             sigmoid colon mucosa

    See PKP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PKP2

    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

        SABiosciences Expression via Pathway-Focused PCR Array including PKP2: 
              Adherens Junctions in human mouse rat

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    In Situ
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    Orthologs
    for PKP2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PKP2 gene from 5/11 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 67.03(n)
    63.43(a)    		   418130  XM_416362.3  XP_416362.3 
    lizard
    (Anolis carolinensis)    		 Reptilia PKP26
    		 Uncharacterized protein
    		 56(a)
    		 1 ↔ 1
    		 5(10084262-10129441)
    zebrafish
    (Danio rerio)    		 Actinopterygii pkp21 plakophilin 2 50.11(n)
    41.22(a)    		   568060  NM_001113433.1  NP_001106904.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea jac-16
    		 Juxtamembrane domain-associated catenin
    		 13(a)
    		 1 → many
    		 IV(15997665-16026847)


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

    Paralogs
    for PKP2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PKP2 gene
    PKP12  CTNND12  PKP32  CTNND22  ARVCF2  PKP42  
    5 SIMAP similar genes for PKP2 using alignment to 6 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


    Genomic Variants
    for PKP2 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2267 SNPs in PKP2 are shown (see all 2267)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0211504
    		Familial arrhythmogenic right ventricular dysplasia 9 (ARVD9)4--see VAR_0211502 K Q mis40--------
    VAR_0657164
    		Familial arrhythmogenic right ventricular dysplasia 9 (ARVD9)4--see VAR_0657162 Y C mis40--------
    VAR_0657114
    		Familial arrhythmogenic right ventricular dysplasia 9 (ARVD9)4--see VAR_0657112 F S mis40--------
    VAR_0657184
    		Familial arrhythmogenic right ventricular dysplasia 9 (ARVD9)4--see VAR_0657182 L F mis40--------
    VAR_0211514
    		Familial arrhythmogenic right ventricular dysplasia 9 (ARVD9)4--see VAR_0211512 C R mis40--------
    VAR_0657054
    		Familial arrhythmogenic right ventricular dysplasia 9 (ARVD9)4--see VAR_0657052 E K mis40--------
    VAR_0657064
    		Familial arrhythmogenic right ventricular dysplasia 9 (ARVD9)4--see VAR_0657062 S G mis40--------
    VAR_0211494
    		Familial arrhythmogenic right ventricular dysplasia 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
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for PKP2 gene

    (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
    PKP2 for disorders           About GeneDecksing

    OMIM gene information: 602861   
    OMIM disorders: 609040  
    UniProtKB/Swiss-Prot: PKP2_HUMAN, Q99959
  • Familial arrhythmogenic right ventricular dysplasia 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

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

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

    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
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant

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

    Export disorders for PKP2 gene to outside databases

    Publications
    for PKP2 gene

    (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

    PubMed articles for PKP2 gene, integrated from 9 sources (see all 104):
    (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 bystande rs? (PubMed id 19955750)1, 2, 4, 9 Christensen A.H....Svendsen J.H. (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. (1996)
    3. Comprehensive desmosome mutation analysis in north am ericans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 20031617)1, 2, 4, 9 den Haan A.D....Judge D.P. (2009)
    4. Role of genetic testing in arrhythmogenic right ventr icular cardiomyopathy/dysplasia. (PubMed id 19863551)1, 2, 4 Barahona-Dussault C....Brugada R. (2010)
    5. Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 19427443)1, 4, 9 Qiu X....Zhang L. (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. (1999)
    7. Desmoglein-2 and desmocollin-2 mutations in dutch arr hythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. (PubMed id 20031616)1, 4, 9 Bhuiyan Z.A....van Tintelen J.P. (2009)
    8. Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy. (PubMed id 19302745)1, 4, 9 Wu S.L....Deng M. (2009)
    9. Clinical features, survival experience, and profile o f plakophylin-2 gene mutations in participants of the arrhythmogenic right vent ricular cardiomyopathy registry of South Africa. (PubMed id 19880068)1, 4, 9 Watkins D.A....Mayosi B.M. (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. (2004)

    External Searches for PKP2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing PKP2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5318 HGNC: 9024 AceView: PKP2 Ensembl:ENSG00000057294 euGenes: HUgn5318
    ECgene: PKP2 Kegg: 5318 H-InvDB: PKP2

    Other Databases showing PKP2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PKP2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PKP2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKP2

    Intellectual Property
    for PKP2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PKP2 gene:
    Search GeneIP for patents involving PKP2

    GeneCards and IP:
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