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Pkp2 plakophilin 2 [ Mus musculus (house mouse) ]

Gene ID: 67451, updated on 5-Jan-2023

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. 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, Apr 2022]
Expression
Broad expression in placenta adult (RPKM 32.2), heart adult (RPKM 24.0) and 16 other tissues See more
Orthologs
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Genomic context

See Pkp2 in Genome Data Viewer
Location:
16; 16 A2
Exon count:
13
Annotation release Status Assembly Chr Location
109 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 ribosomal protein L29, pseudogene 4 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

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables alpha-catenin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables alpha-catenin binding ISO
Inferred from Sequence Orthology
more info
 
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables intermediate filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables intermediate filament binding ISO
Inferred from Sequence Orthology
more info
 
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
 
acts_upstream_of_or_within cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell signaling involved in cardiac conduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell signaling involved in cardiac conduction ISO
Inferred from Sequence Orthology
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
PubMed 
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
PubMed 
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
PubMed 
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 ISO
Inferred from Sequence Orthology
more info
 
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 protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
involved_in ventricular cardiac muscle cell action potential ISO
Inferred from Sequence Orthology
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
PubMed 
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-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
PubMed 
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
 
is_active_in intercalated disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in intercalated disc ISO
Inferred from Sequence Orthology
more info
 
is_active_in intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in intermediate filament IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

NCBI Reference Sequences (RefSeq)

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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
    UniProtKB/TrEMBL
    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: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

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