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PKP2 (plakophilin 2)

Identity

Other aliasARVD9
HGNC (Hugo) PKP2
LocusID (NCBI) 5318
Atlas_Id 52640
Location 12p11.21  [Link to chromosome band 12p11]
Location_base_pair Starts at 32943680 and ends at 33049780 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C2CD5 (12p12.1) / PKP2 (12p11.21)IDH3G (Xq28) / PKP2 (12p11.21)PKP2 (12p11.21) / CD3EAP (19q13.32)
PKP2 (12p11.21) / DNM1L (12p11.21)PKP2 (12p11.21) / TAOK1 (17q11.2)PTPRK (6q22.33) / PKP2 (12p11.21)
RAB7A (3q21.3) / PKP2 (12p11.21)RTTN (18q22.2) / PKP2 (12p11.21)PKP2 12p11.21 / DNM1L 12p11.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PKP2   9024
LRG (Locus Reference Genomic)LRG_398
Cards
Entrez_Gene (NCBI)PKP2  5318  plakophilin 2
AliasesARVD9
GeneCards (Weizmann)PKP2
Ensembl hg19 (Hinxton)ENSG00000057294 [Gene_View]  chr12:32943680-33049780 [Contig_View]  PKP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000057294 [Gene_View]  chr12:32943680-33049780 [Contig_View]  PKP2 [Vega]
ICGC DataPortalENSG00000057294
TCGA cBioPortalPKP2
AceView (NCBI)PKP2
Genatlas (Paris)PKP2
WikiGenes5318
SOURCE (Princeton)PKP2
Genetics Home Reference (NIH)PKP2
Genomic and cartography
GoldenPath hg19 (UCSC)PKP2  -     chr12:32943680-33049780 -  12p11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PKP2  -     12p11.21   [Description]    (hg38-Dec_2013)
EnsemblPKP2 - 12p11.21 [CytoView hg19]  PKP2 - 12p11.21 [CytoView hg38]
Mapping of homologs : NCBIPKP2 [Mapview hg19]  PKP2 [Mapview hg38]
OMIM602861   609040   
Gene and transcription
Genbank (Entrez)AK299139 AU125826 AW439621 BC070083 BC094762
RefSeq transcript (Entrez)NM_001005242 NM_004572
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_009000 NT_009714 NW_004929383
Consensus coding sequences : CCDS (NCBI)PKP2
Cluster EST : UnigeneHs.164384 [ NCBI ]
CGAP (NCI)Hs.164384
Alternative Splicing GalleryENSG00000057294
Gene ExpressionPKP2 [ NCBI-GEO ]   PKP2 [ EBI - ARRAY_EXPRESS ]   PKP2 [ SEEK ]   PKP2 [ MEM ]
Gene Expression Viewer (FireBrowse)PKP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5318
GTEX Portal (Tissue expression)PKP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99959   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99959  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99959
Splice isoforms : SwissVarQ99959
PhosPhoSitePlusQ99959
Domaine pattern : Prosite (Expaxy)ARM_REPEAT (PS50176)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Armadillo    Plakophilin/d_Catenin   
Domain families : Pfam (Sanger)Arm (PF00514)   
Domain families : Pfam (NCBI)pfam00514   
Domain families : Smart (EMBL)ARM (SM00185)  
Conserved Domain (NCBI)PKP2
DMDM Disease mutations5318
Blocks (Seattle)PKP2
PDB (SRS)3TT9   
PDB (PDBSum)3TT9   
PDB (IMB)3TT9   
PDB (RSDB)3TT9   
Structural Biology KnowledgeBase3TT9   
SCOP (Structural Classification of Proteins)3TT9   
CATH (Classification of proteins structures)3TT9   
SuperfamilyQ99959
Human Protein AtlasENSG00000057294
Peptide AtlasQ99959
HPRD04177
IPIIPI00005264   IPI00219688   IPI01013025   
Protein Interaction databases
DIP (DOE-UCLA)Q99959
IntAct (EBI)Q99959
FunCoupENSG00000057294
BioGRIDPKP2
STRING (EMBL)PKP2
ZODIACPKP2
Ontologies - Pathways
QuickGOQ99959
Ontology : AmiGOdesmosome assembly  molecular_function  protein kinase C binding  protein binding  nucleus  nucleoplasm  intermediate filament  plasma membrane  cell-cell junction  adherens junction  heart development  negative regulation of cell proliferation  positive regulation of sodium ion transport  intercalated disc  intercalated disc  integral component of membrane  gap junction assembly  single organismal cell-cell adhesion  single organismal cell-cell adhesion  sodium channel regulator activity  intermediate filament binding  cell junction  desmosome  desmosome  negative regulation of cell migration  protein complex scaffold  adherens junction maintenance  ion channel binding  intermediate filament bundle assembly  alpha-catenin binding  maintenance of organ identity  ventricular cardiac muscle tissue morphogenesis  lipid homeostasis  cardiac muscle cell action potential  cardiac muscle cell action potential involved in contraction  ventricular cardiac muscle cell action potential  cell-cell signaling involved in cardiac conduction  cell communication by electrical coupling involved in cardiac conduction  bundle of His cell-Purkinje myocyte adhesion involved in cell communication  cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication  regulation of heart rate by cardiac conduction  establishment of protein localization to plasma membrane  regulation of ventricular cardiac muscle cell action potential  regulation of bicellular tight junction assembly  
Ontology : EGO-EBIdesmosome assembly  molecular_function  protein kinase C binding  protein binding  nucleus  nucleoplasm  intermediate filament  plasma membrane  cell-cell junction  adherens junction  heart development  negative regulation of cell proliferation  positive regulation of sodium ion transport  intercalated disc  intercalated disc  integral component of membrane  gap junction assembly  single organismal cell-cell adhesion  single organismal cell-cell adhesion  sodium channel regulator activity  intermediate filament binding  cell junction  desmosome  desmosome  negative regulation of cell migration  protein complex scaffold  adherens junction maintenance  ion channel binding  intermediate filament bundle assembly  alpha-catenin binding  maintenance of organ identity  ventricular cardiac muscle tissue morphogenesis  lipid homeostasis  cardiac muscle cell action potential  cardiac muscle cell action potential involved in contraction  ventricular cardiac muscle cell action potential  cell-cell signaling involved in cardiac conduction  cell communication by electrical coupling involved in cardiac conduction  bundle of His cell-Purkinje myocyte adhesion involved in cell communication  cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication  regulation of heart rate by cardiac conduction  establishment of protein localization to plasma membrane  regulation of ventricular cardiac muscle cell action potential  regulation of bicellular tight junction assembly  
Pathways : KEGGArrhythmogenic right ventricular cardiomyopathy (ARVC)   
NDEx NetworkPKP2
Atlas of Cancer Signalling NetworkPKP2
Wikipedia pathwaysPKP2
Orthology - Evolution
OrthoDB5318
GeneTree (enSembl)ENSG00000057294
Phylogenetic Trees/Animal Genes : TreeFamPKP2
HOVERGENQ99959
HOGENOMQ99959
Homologs : HomoloGenePKP2
Homology/Alignments : Family Browser (UCSC)PKP2
Gene fusions - Rearrangements
Fusion : MitelmanPKP2/DNM1L [12p11.21/12p11.21]  
Fusion: TCGAPKP2 12p11.21 DNM1L 12p11.21 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKP2
dbVarPKP2
ClinVarPKP2
1000_GenomesPKP2 
Exome Variant ServerPKP2
ExAC (Exome Aggregation Consortium)PKP2 (select the gene name)
Genetic variants : HAPMAP5318
Genomic Variants (DGV)PKP2 [DGVbeta]
DECIPHER (Syndromes)12:32943680-33049780  ENSG00000057294
CONAN: Copy Number AnalysisPKP2 
Mutations
ICGC Data PortalPKP2 
TCGA Data PortalPKP2 
Broad Tumor PortalPKP2
OASIS PortalPKP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)ARVD/C Genetic Variants Database
BioMutasearch PKP2
DgiDB (Drug Gene Interaction Database)PKP2
DoCM (Curated mutations)PKP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKP2 (select a term)
intoGenPKP2
Cancer3DPKP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602861    609040   
Orphanet20888    20887    20886   
MedgenPKP2
Genetic Testing Registry PKP2
NextProtQ99959 [Medical]
TSGene5318
GENETestsPKP2
Huge Navigator PKP2 [HugePedia]
snp3D : Map Gene to Disease5318
BioCentury BCIQPKP2
ClinGenPKP2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5318
Chemical/Pharm GKB GenePA33357
Clinical trialPKP2
Miscellaneous
canSAR (ICR)PKP2 (select the gene name)
Probes
Litterature
PubMed88 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKP2
EVEXPKP2
GoPubMedPKP2
iHOPPKP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:14:32 CEST 2017

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