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Pkp2
Gene Detail
 Symbol
Name
ID
Pkp2
plakophilin 2
MGI:1914701
Synonyms 1200008D14Rik, 1200012P04Rik, Pkp2l
Feature Type protein coding gene
Genetic Map
Chromosome 16
10.09 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr16:16213318-16272712 bp, + strand
From VEGA annotation of GRCm38

  59395 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3364  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Pkp2

Human
homologs
Human Homolog PKP2, plakophilin 2
NCBI Gene ID 5318
neXtProt AC  NX_Q99959
Human Synonyms  ARVD9
Human Chr (Location)  12p11; chr12:32790746-32896846 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human PKP2
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(4) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum.
 
Phenotype Images(2)
Interactions
Pkp2 interacts with 167 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (32 annotations)
Process adherens junction maintenance, bundle of His cell to Purkinje myocyte communication, ...
Component adherens junction, cell-cell junction, ...
Function intermediate filament binding, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (1)    Tissues (1)   
Theiler Stages: 28
Assay TypeResults
Immunohistochemistry 1
cDNA source data(52)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(52) cDNA(52)
Microarray probesets(8)
Other database
links
VEGA Gene ModelOTTMUSG00000021016 (Evidence)
Ensembl Gene ModelENSMUSG00000041957 (Evidence)
Entrez Gene67451 (Evidence)
UniGene2252
DFCITC1578684, TC1643819
DoTSDT.528970, DT.101371356, DT.94128015
NIA Mouse Gene IndexU016852
Consensus CDS ProjectCCDS27981.1
International Mouse Knockout Project StatusPkp2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021016 VEGA Gene Model | MGI Sequence Detail 59395 C57BL/6J ±  kb
transcript OTTMUST00000049682 VEGA | MGI Sequence Detail 2918 Not Applicable 
polypeptide OTTMUSP00000023065 VEGA | MGI Sequence Detail 795 Not Applicable 

For the selected sequences
All sequences(43) RefSeq(2) UniProt(5)
Polymorphisms SNPs within 2kb(204 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000225 Armadillo
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
Protein Ontology PR:000012791 plakophilin-2
References (Earliest) J:51903 Gallicano GI, et al., Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol. 1998 Dec 28;143(7):2009-22
(Latest) J:202963 Sugimoto M, et al., Genetic variants related to gap junctions and hormone secretion influence conception rates in cows. Proc Natl Acad Sci U S A. 2013 Nov 26;110(48):19495-500
All references(41)
Other
accession IDs
MGI:1328349, MGI:1918991, MGI:2146346

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory