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    Pkp2 plakophilin 2 [ Mus musculus (house mouse) ]

    Gene ID: 67451, updated on 9-Dec-2024

    Summary

    Official Symbol
    Pkp2provided by MGI
    Official Full Name
    plakophilin 2provided by MGI
    Primary source
    MGI:MGI:1914701
    See related
    Ensembl:ENSMUSG00000041957 AllianceGenome:MGI:1914701
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pkp2l; 1200008D14Rik; 1200012P04Rik
    Summary
    Predicted to enable several functions, including alpha-catenin binding activity; cadherin binding activity; and protein kinase C binding activity. Involved in maintenance of protein localization at cell tip. Acts upstream of or within cell-cell adhesion and heart development. Located in desmosome; intercalated disc; and intermediate filament. Is expressed in brain; cardiac muscle tissue; and telencephalon. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and arrhythmogenic right ventricular dysplasia 9. Orthologous to human PKP2 (plakophilin 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in placenta adult (RPKM 32.2), heart adult (RPKM 24.0) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Pkp2 in Genome Data Viewer
    Location:
    16 A2; 16 10.09 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (16031209..16090576)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (16213345..16272712)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_40224 Neighboring gene ribosomal protein L29, pseudogene 4 Neighboring gene STARR-seq mESC enhancer starr_40225 Neighboring gene cell division cycle associated 7 pseudogene Neighboring gene ribosomal protein L30 pseudogene Neighboring gene tyrosyl-tRNA synthetase 2 (mitochondrial)

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables alpha-catenin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables alpha-catenin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables intermediate filament binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables intermediate filament binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables molecular adaptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase C binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein kinase C binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in adherens junction maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cardiac muscle cell action potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cardiac muscle cell action potential involved in contraction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell signaling involved in cardiac conduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in desmosome assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in desmosome assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in desmosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gap junction assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intermediate filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intermediate filament bundle assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intermediate filament bundle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lipid homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in maintenance of animal organ identity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of animal organ identity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in maintenance of protein localization at cell tip IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of bicellular tight junction assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cell-substrate adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of heart rate by cardiac conduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of heart rate by cardiac conduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of substrate adhesion-dependent cell spreading IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of substrate adhesion-dependent cell spreading ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of ventricular cardiac muscle cell action potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of ventricular cardiac muscle cell action potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ventricular cardiac muscle cell action potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular cardiac muscle cell action potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ventricular cardiac muscle tissue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular cardiac muscle tissue morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in adherens junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell tip IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in desmosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in desmosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in desmosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in intercalated disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intercalated disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intercalated disc ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intermediate filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_026163.2NP_080439.1  plakophilin-2

      See identical proteins and their annotated locations for NP_080439.1

      Status: VALIDATED

      Source sequence(s)
      AK004650
      Consensus CDS
      CCDS27981.1
      UniProtKB/Swiss-Prot
      Q3TIY5, Q9CQ73
      Related
      ENSMUSP00000036890.3, ENSMUST00000039408.3
      Conserved Domains (2) summary
      cd00020
      Location:308425
      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:311338
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      16031209..16090576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)