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PKP2 plakophilin 2 [ Homo sapiens (human) ]

Gene ID: 5318, updated on 8-Jul-2021

Summary

Official Symbol
PKP2provided by HGNC
Official Full Name
plakophilin 2provided by HGNC
Primary source
HGNC:HGNC:9024
See related
Ensembl:ENSG00000057294 MIM:602861
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
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Genomic context

See PKP2 in Genome Data Viewer
Location:
12p11.21
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (32790755..32896777, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32943689..33049711, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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

Associated conditions

Description Tests
Arrhythmogenic right ventricular cardiomyopathy Compare labs
Arrhythmogenic right ventricular dysplasia 9 Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

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

Genomic

  1. NG_009000.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001005242.3NP_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
    ENSP00000342800.5, ENST00000340811.9
    Conserved Domains (2) summary
    smart00185
    Location:426467
    ARM; Armadillo/beta-catenin-like repeats
    sd00043
    Location:430467
    ARM; armadillo repeat [structural motif]
  2. NM_004572.4NP_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, ENST00000070846.11
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    32790755..32896777 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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