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PKP2 plakophilin 2 [ Homo sapiens (human) ]

Gene ID: 5318, updated on 9-Dec-2018

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

Genomic context

See PKP2 in Genome Data Viewer
Location:
12p11.21
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (32790746..32896846, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32943680..33049780, 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 FunctionsWhat'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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2015-12-17)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2015-12-17)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
    Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

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

NCBI Reference Sequences (RefSeq)

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_001005242.2NP_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
    ENSP00000342800.4, ENST00000340811.8
    Conserved Domains (2) summary
    smart00185
    Location:426467
    ARM; Armadillo/beta-catenin-like repeats
    sd00043
    Location:430467
    ARM; armadillo repeat [structural motif]
  2. NM_004572.3NP_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, ENST00000070846.10
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    32790746..32896846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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