Format

Send to:

Choose Destination
    • Showing Current items.

    PKP2 plakophilin 2 [ Homo sapiens (human) ]

    Gene ID: 5318, updated on 9-Sep-2018

    Summary

    Official Symbol
    PKP2provided by HGNC
    Official Full Name
    plakophilin 2provided by HGNC
    Primary source
    HGNC:HGNC:9024
    See related
    Ensembl:ENSG00000057294 MIM:602861; Vega:OTTHUMG00000169500
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARVD9
    Summary
    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]
    Expression
    Biased expression in heart (RPKM 72.8), colon (RPKM 29.6) and 12 other tissues See more
    Orthologs

    Genomic context

    See PKP2 in Genome Data Viewer
    Location:
    12p11.21
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (32790746..32896846, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32943680..33049780, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene FYVE, RhoGEF and PH domain containing 4 Neighboring gene RNA, U6 small nuclear 494, pseudogene Neighboring gene nucleosome assembly protein 1 like 1 pseudogene Neighboring gene dynamin 1 like Neighboring gene tyrosyl-tRNA synthetase 2 Neighboring gene ribosomal protein L35a pseudogene 27 Neighboring gene argininosuccinate synthetase 1 pseudogene 14 Neighboring gene synaptotagmin 10

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in PKP2 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2015-12-17)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2015-12-17)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
      Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC177501

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    alpha-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cadherin binding HDA PubMed 
    cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication IC
    Inferred by Curator
    more info
    PubMed 
    intermediate filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intermediate filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion channel binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase C binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein kinase C binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein-containing complex scaffold activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein-containing complex scaffold activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sodium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    adherens junction maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle cell action potential involved in contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell communication by electrical coupling involved in cardiac conduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell-cell junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell signaling involved in cardiac conduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell signaling involved in cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cornification TAS
    Traceable Author Statement
    more info
     
    desmosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intermediate filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intermediate filament bundle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    keratinization TAS
    Traceable Author Statement
    more info
     
    maintenance of animal organ identity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of sodium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell junction IDA
    Inferred from Direct Assay
    more info
     
    cell-cell adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cornified envelope TAS
    Traceable Author Statement
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    desmosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    desmosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    intercalated disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intercalated disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intermediate filament ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT messenger ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009000.1 RefSeqGene

      Range
      5001..111101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_398

    mRNA and Protein(s)

    1. NM_001005242.2NP_001005242.2  plakophilin-2 isoform 2a

      See identical proteins and their annotated locations for NP_001005242.2

      Status: REVIEWED

      Description
      Transcript Variant: This transcript variant (2a) lacks an alternate exon as compared to transcript variant 2b and encodes the shorter isoform (2a).
      Source sequence(s)
      AC087588, AW439621, BC126199, DB454360
      Consensus CDS
      CCDS31771.1
      UniProtKB/Swiss-Prot
      Q99959
      Related
      ENSP00000342800.4, OTTHUMP00000241342, ENST00000340811.8, OTTHUMT00000404448
      Conserved Domains (2) summary
      smart00185
      Location:426467
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:430467
      ARM; armadillo repeat [structural motif]
    2. NM_004572.3NP_004563.2  plakophilin-2 isoform 2b

      See identical proteins and their annotated locations for NP_004563.2

      Status: REVIEWED

      Description
      Transcript Variant: This transcript variant (2b) represents the longer transcript variant and encodes the longer isoform.
      Source sequence(s)
      AC087588, AU125826, AW439621, DB454360, X97675
      Consensus CDS
      CCDS8731.1
      UniProtKB/Swiss-Prot
      Q99959
      Related
      ENSP00000070846.6, OTTHUMP00000241343, ENST00000070846.10, OTTHUMT00000404449
      Conserved Domains (2) summary
      cd00020
      Location:675804
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:388424
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      32790746..32896846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center