Pkp2 plakophilin 2 [Mus musculus (house mouse)] - Gene

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, Nov 2024]
Expression: Broad expression in placenta adult (RPKM 32.2), heart adult (RPKM 24.0) and 16 other tissues See more
Orthologs: human all
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Genomic context

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_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of plakophilin-2 expression on exercise-related progression of arrhythmogenic right ventricular cardiomyopathy: a translational study.
Title: Role of plakophilin-2 expression on exercise-related progression of arrhythmogenic right ventricular cardiomyopathy: a translational study.
Exercise Causes Arrhythmogenic Remodeling of Intracellular Calcium Dynamics in Plakophilin-2-Deficient Hearts.
Title: Exercise Causes Arrhythmogenic Remodeling of Intracellular Calcium Dynamics in Plakophilin-2-Deficient Hearts.
Knock Down of Plakophillin 2 Dysregulates Adhesion Pathway through Upregulation of miR200b and Alters the Mechanical Properties in Cardiac Cells.
Title: Knock Down of Plakophillin 2 Dysregulates Adhesion Pathway through Upregulation of miR200b and Alters the Mechanical Properties in Cardiac Cells.
Loss of PKP2 creates an right ventricular-predominant arrhythmogenic substrate (Ca2+ dysregulation) that precedes the cardiomyopathy
Title: Disruption of Ca(2+)(i) Homeostasis and Connexin 43 Hemichannel Function in the Right Ventricle Precedes Overt Arrhythmogenic Cardiomyopathy in Plakophilin-2-Deficient Mice.
This study found that the PKP2 gene showed a downregulated profile only in the Inflexible when compared to the Light ethanol drinkers group.
Title: Loss of control over the ethanol consumption: differential transcriptional regulation in prefrontal cortex.
Data indicate that lack of plakophilin-2 (PKP2) can cause arrhythmia in a structurally normal heart.
Title: Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm.
Results demonstrated that truncated PKP2 provokes arrhythmogenic cardiomyopathy in the absence of fibro-fatty replacement in the mouse.
Title: Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model.
PKP2 deficiency leads to suppression of the E2F1 pathway and hypermethylation of CPG sites at miR-184 promoter.
Title: Knockdown of Plakophilin 2 Downregulates miR-184 Through CpG Hypermethylation and Suppression of the E2F1 Pathway and Leads to Enhanced Adipogenesis In Vitro.
Plakophilin-2 loss promotes TGF-beta1/p38 MAPK-dependent fibrotic gene expression in cardiomyocytes.
Title: Plakophilin-2 loss promotes TGF-β1/p38 MAPK-dependent fibrotic gene expression in cardiomyocytes.
Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.
Title: Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

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

Endonuclease-mediated (4) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

General protein information

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Preferred Names: plakophilin-2

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)

NM_026163.2 → NP_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:308 → 425

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:311 → 338

ARM; armadillo repeat [structural motif]