Pkp2 plakophilin 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Pkp2provided by RGD
Official Full Name: plakophilin 2provided by RGD
Primary source: RGD:1306533
See related: Ensembl:ENSRNOG00000001825 AllianceGenome:RGD:1306533
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable several functions, including alpha-catenin binding activity; intermediate filament binding activity; and protein kinase C binding activity. Involved in several processes, including cell-cell junction organization; lipid homeostasis; and regulation of bicellular tight junction assembly. Located in adherens junction and intercalated disc. 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: Biased expression in Heart (RPKM 331.8), Kidney (RPKM 89.8) and 5 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 11q23

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	11	NC_086029.1 (98165974..98231916, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	11	NC_051346.1 (84661783..84727730, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	11	NC_005110.4 (88912163..88972213, complement)

Chromosome 11 - NC_086029.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Plakophilin-2 silencing in epicardial cultures showed increased velocity of migration, increased proliferative rate, and increased adiposis.
Title: Plakophilin-2 and the migration, differentiation and transformation of cells derived from the epicardium of neonatal rat hearts.
demonstrated that loss of AnkG expression caused significant changes in subcellular distribution and/or abundance of PKP2 and Connexin43 as well as a decrease in intercellular adhesion strength and electric coupling
Title: Interactions between ankyrin-G, Plakophilin-2, and Connexin43 at the cardiac intercalated disc.
PKP2 associates with Na(V)1.5, and that knockdown of PKP2 expression alters the properties of the sodium current, and the velocity of action potential propagation in cultured cardiomyocytes.
Title: Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes.
Cx43 and PKP2 form a protein complex within the desmosome-like junction to regulate cell adhesion at the blood-testis barrier, partly through its effects on the occludin/ZO-1 complex, so as to facilitate the transit of primary preleptotene spermatocytes.
Title: Connexin 43 and plakophilin-2 as a protein complex that regulates blood-testis barrier dynamics.
Presence of plakophilin (PKP)2, a component of the desmosome, is essential for the proper function and distribution of gap junction protein connexin (Cx)43.
Title: Connexin43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells.

Submit: New GeneRIF Correction

General gene information

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Markers

AI556444 (e-PCR)
- UniSTS:244637

RH127356 (e-PCR)
- UniSTS:210666

RH140840 (e-PCR)
- UniSTS:210666

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables alpha-catenin binding	ISO Inferred from Sequence Orthology more info
enables intermediate filament binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in adherens junction maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell action potential involved in contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell-cell adhesion	ISO Inferred from Sequence Orthology more info
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 gap junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament bundle assembly	ISO Inferred from Sequence Orthology more info
involved_in lipid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of animal organ identity	ISO Inferred from Sequence Orthology more info
involved_in maintenance of protein localization at cell tip	ISO Inferred from Sequence Orthology more info
involved_in maintenance of protein localization at cell tip	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell adhesion	IMP Inferred from Mutant Phenotype 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	IMP Inferred from Mutant Phenotype more info	PubMed
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
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology 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 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	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology 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_001100499.1 → NP_001093969.1 plakophilin-2

See identical proteins and their annotated locations for NP_001093969.1

Status: PROVISIONAL

Source sequence(s)

CH473999

Related

ENSRNOP00000088522.1, ENSRNOT00000103562.1

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]