ENSMUSG00000041957


Mus musculus

Features
Gene ID: ENSMUSG00000041957
  
Biological name :Pkp2
  
Synonyms : Pkp2 / plakophilin 2
  
Possible biological names infered from orthology : Q99959
  
Species: Mus musculus
  
Chr. number: 16
Strand: 1
Band: A2
Gene start: 16213318
Gene end: 16272712
  
Corresponding Affymetrix probe sets: 10433887 (MoGene1.0st)   1420259_at (Mouse Genome 430 2.0 Array)   1429183_at (Mouse Genome 430 2.0 Array)   1449799_s_at (Mouse Genome 430 2.0 Array)   1460511_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000036890
NCBI entrez gene - 67451     See in Manteia.
MGI - MGI:1914701
RefSeq - NM_026163
RefSeq Peptide - NP_080439
swissprot - Q9CQ73
Ensembl - ENSMUSG00000041957
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pkp2ENSDARG00000023026Danio rerio
 PKP2ENSGALG00000012913Gallus gallus
 PKP2ENSG00000057294Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pkp3 / Q9QY23 / Plakophilin-3 / Q9Y446*ENSMUSG0000005406528
Pkp1 / P97350 / Plakophilin-1 / Q13835*ENSMUSG0000002641328
Ctnnd2 / catenin delta-2 isoform 2 / Q9UQB3* / catenin delta 2*ENSMUSG0000002224028
Pkp4 / Q68FH0 / plakophilin 4 / Q99569*ENSMUSG0000002699126
Arvcf / P98203 / Armadillo repeat protein deleted in velo-cardio-facial syndrome homolog / O00192* / ARVCF, delta catenin family member*ENSMUSG0000000032525
Ctnnd1 / P30999 / Mus musculus catenin (cadherin associated protein), delta 1 (Ctnnd1), transcript variant 7, mRNA. / O60716* / catenin delta 1*ENSMUSG0000003410124
P30999 / Gm28635 / predicted gene 28635 / O60716* / CTNND1* / catenin delta 1*ENSMUSG0000010164524


Protein motifs (from Interpro)
Interpro ID Name
 IPR000225  Armadillo
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold
 IPR028435  Plakophilin/Delta catenin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002159 desmosome assembly IEA
 biological_processGO:0007507 heart development IMP
 biological_processGO:0045110 intermediate filament bundle assembly IEA
 biological_processGO:0048496 maintenance of animal organ identity IEA
 biological_processGO:0055010 ventricular cardiac muscle tissue morphogenesis IEA
 biological_processGO:0072659 protein localization to plasma membrane IEA
 biological_processGO:0086002 cardiac muscle cell action potential involved in contraction IEA
 biological_processGO:0086005 ventricular cardiac muscle cell action potential IEA
 biological_processGO:0086019 cell-cell signaling involved in cardiac conduction IEA
 biological_processGO:0086073 bundle of His cell-Purkinje myocyte adhesion involved in cell communication IEA
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IEA
 biological_processGO:0098609 cell-cell adhesion IMP
 biological_processGO:0098911 regulation of ventricular cardiac muscle cell action potential IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005882 intermediate filament IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0005912 adherens junction IMP
 cellular_componentGO:0014704 intercalated disc IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030057 desmosome IDA
 molecular_functionGO:0005080 protein kinase C binding IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019215 intermediate filament binding IEA
 molecular_functionGO:0032947 protein-containing complex scaffold activity IEA
 molecular_functionGO:0045294 alpha-catenin binding IEA
 molecular_functionGO:0045296 cadherin binding IEA


Pathways (from Reactome)
Pathway description
Keratinization
Formation of the cornified envelope


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000295 poorly developed ventricular trabeculae "retarded differentation of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart" [J:29971]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001633 poor circulation "insufficient movement of blood throughout the body" [MGI:cls, J:45302]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002128 abnormal blood circulation "failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003105 abnormal heart atrium morphology "structural anomaly of one or both of the two upper chambers of the heart " [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0005244 hemopericardium "bleeding into the pericardial space" [Pathology:ISBN 0-397-51047-0]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0005329 abnormal cardiac muscle morphology "anomalous structure of the involuntary muscle comprising the myocardium " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0005435 hemoperitoneum "blood in the peritoneal cavity" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:87293]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0020378 abnormal cell cytoskeleton morphology "any anomaly in the structure of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm" [GO:0005856, MGI:mberry]
Show

Allelic Composition: Clcn5tm1Gug/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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