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PKP2 plakophilin 2 [ Homo sapiens (human) ]

Gene ID: 5318, updated on 29-Jul-2014
Official Symbol
PKP2provided by HGNC
Official Full Name
plakophilin 2provided by HGNC
Primary source
HGNC:9024
See related
Ensembl:ENSG00000057294; HPRD:04177; MIM:602861; Vega:OTTHUMG00000169500
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]
See PKP2 in Epigenomics, MapViewer
Location:
12p11
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 nucleosome assembly protein 1-like 1 pseudogene Neighboring gene dynamin 1-like Neighboring gene tyrosyl-tRNA synthetase 2, mitochondrial Neighboring gene ribosomal protein L35a pseudogene 27 Neighboring gene argininosuccinate synthetase 1 pseudogene 14 Neighboring gene synaptotagmin X

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC177501

Gene Ontology Provided by GOA

Function Evidence Code Pubs
intermediate filament binding IDA
Inferred from Direct Assay
more info
PubMed 
ion channel binding ISS
Inferred from Sequence or Structural Similarity
more info
 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex scaffold IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein kinase C binding IPI
Inferred from Physical Interaction
more info
PubMed 
sodium channel regulator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
adherens junction maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
bundle of His cell to Purkinje myocyte communication IMP
Inferred from Mutant Phenotype
more info
 
cardiac muscle cell action potential ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
 
cell communication by electrical coupling involved in cardiac conduction ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-cell signaling involved in cardiac conduction IMP
Inferred from Mutant Phenotype
more info
 
desmosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
gap junction assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
intermediate filament bundle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
lipid homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
maintenance of organ identity IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of sodium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
 
regulation of tight junction assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
single organismal cell-cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
single organismal cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 
ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
 
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 junction ISS
Inferred from Sequence or Structural Similarity
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
intermediate filament ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
plakophilin-2
Names
plakophilin-2

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 

    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 proteins identical to 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, OTTHUMP00000241342, ENST00000340811, OTTHUMT00000404448
    Conserved Domains (1) summary
    cd00020
    Location:350467
    Blast Score: 189
    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, ...
  2. NM_004572.3NP_004563.2  plakophilin-2 isoform 2b

    See proteins identical to 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, OTTHUMP00000241343, ENST00000070846, OTTHUMT00000404449
    Conserved Domains (1) summary
    cd00020
    Location:675804
    Blast Score: 173
    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, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

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

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    32696154..32802035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    32910199..33015916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)