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PKP3 (plakophilin 3)

Identity

Other alias-
HGNC (Hugo) PKP3
LocusID (NCBI) 11187
Atlas_Id 50409
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 392599 and ends at 404908 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EIF4H (7q11.23) / PKP3 (11p15.5)PKP3 (11p15.5) / PKP3 (11p15.5)

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)PKP3   9025
Cards
Entrez_Gene (NCBI)PKP3  11187  plakophilin 3
Aliases
GeneCards (Weizmann)PKP3
Ensembl hg19 (Hinxton)ENSG00000184363 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184363 [Gene_View]  chr11:392599-404908 [Contig_View]  PKP3 [Vega]
ICGC DataPortalENSG00000184363
TCGA cBioPortalPKP3
AceView (NCBI)PKP3
Genatlas (Paris)PKP3
WikiGenes11187
SOURCE (Princeton)PKP3
Genetics Home Reference (NIH)PKP3
Genomic and cartography
GoldenPath hg38 (UCSC)PKP3  -     chr11:392599-404908 +  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKP3  -     11p15.5   [Description]    (hg19-Feb_2009)
EnsemblPKP3 - 11p15.5 [CytoView hg19]  PKP3 - 11p15.5 [CytoView hg38]
Mapping of homologs : NCBIPKP3 [Mapview hg19]  PKP3 [Mapview hg38]
OMIM605561   
Gene and transcription
Genbank (Entrez)AF053719 AK025067 AK223511 BC000081 BG611119
RefSeq transcript (Entrez)NM_001303029 NM_007183
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PKP3
Cluster EST : UnigeneHs.534395 [ NCBI ]
CGAP (NCI)Hs.534395
Alternative Splicing GalleryENSG00000184363
Gene ExpressionPKP3 [ NCBI-GEO ]   PKP3 [ EBI - ARRAY_EXPRESS ]   PKP3 [ SEEK ]   PKP3 [ MEM ]
Gene Expression Viewer (FireBrowse)PKP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11187
GTEX Portal (Tissue expression)PKP3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y446   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y446  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y446
Splice isoforms : SwissVarQ9Y446
PhosPhoSitePlusQ9Y446
Domaine pattern : Prosite (Expaxy)ARM_REPEAT (PS50176)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Armadillo    Plakophilin-3    Plakophilin/d_Catenin   
Domain families : Pfam (Sanger)Arm (PF00514)   
Domain families : Pfam (NCBI)pfam00514   
Domain families : Smart (EMBL)ARM (SM00185)  
Conserved Domain (NCBI)PKP3
DMDM Disease mutations11187
Blocks (Seattle)PKP3
SuperfamilyQ9Y446
Human Protein AtlasENSG00000184363
Peptide AtlasQ9Y446
HPRD05711
IPIIPI00026952   IPI00976615   IPI00984629   IPI00983463   IPI00976042   IPI00985204   IPI00984072   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y446
IntAct (EBI)Q9Y446
FunCoupENSG00000184363
BioGRIDPKP3
STRING (EMBL)PKP3
ZODIACPKP3
Ontologies - Pathways
QuickGOQ9Y446
Ontology : AmiGOcornified envelope  desmosome assembly  RNA binding  protein binding  nucleoplasm  plasma membrane  plasma membrane  cell-cell junction  cell-cell adherens junction  regulation of translation  positive regulation of gene expression  single organismal cell-cell adhesion  enzyme binding  cell junction  desmosome  keratinization  translation regulator activity  alpha-catenin binding  cell adhesion molecule binding  cornification  establishment of protein localization to plasma membrane  cadherin binding involved in cell-cell adhesion  negative regulation of mRNA catabolic process  messenger ribonucleoprotein complex  
Ontology : EGO-EBIcornified envelope  desmosome assembly  RNA binding  protein binding  nucleoplasm  plasma membrane  plasma membrane  cell-cell junction  cell-cell adherens junction  regulation of translation  positive regulation of gene expression  single organismal cell-cell adhesion  enzyme binding  cell junction  desmosome  keratinization  translation regulator activity  alpha-catenin binding  cell adhesion molecule binding  cornification  establishment of protein localization to plasma membrane  cadherin binding involved in cell-cell adhesion  negative regulation of mRNA catabolic process  messenger ribonucleoprotein complex  
NDEx NetworkPKP3
Atlas of Cancer Signalling NetworkPKP3
Wikipedia pathwaysPKP3
Orthology - Evolution
OrthoDB11187
GeneTree (enSembl)ENSG00000184363
Phylogenetic Trees/Animal Genes : TreeFamPKP3
HOVERGENQ9Y446
HOGENOMQ9Y446
Homologs : HomoloGenePKP3
Homology/Alignments : Family Browser (UCSC)PKP3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKP3
dbVarPKP3
ClinVarPKP3
1000_GenomesPKP3 
Exome Variant ServerPKP3
ExAC (Exome Aggregation Consortium)PKP3 (select the gene name)
Genetic variants : HAPMAP11187
Genomic Variants (DGV)PKP3 [DGVbeta]
DECIPHERPKP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPKP3 
Mutations
ICGC Data PortalPKP3 
TCGA Data PortalPKP3 
Broad Tumor PortalPKP3
OASIS PortalPKP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKP3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKP3
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
BioMutasearch PKP3
DgiDB (Drug Gene Interaction Database)PKP3
DoCM (Curated mutations)PKP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKP3 (select a term)
intoGenPKP3
Cancer3DPKP3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605561   
Orphanet
MedgenPKP3
Genetic Testing Registry PKP3
NextProtQ9Y446 [Medical]
TSGene11187
GENETestsPKP3
Target ValidationPKP3
Huge Navigator PKP3 [HugePedia]
snp3D : Map Gene to Disease11187
BioCentury BCIQPKP3
ClinGenPKP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11187
Chemical/Pharm GKB GenePA33358
Clinical trialPKP3
Miscellaneous
canSAR (ICR)PKP3 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKP3
EVEXPKP3
GoPubMedPKP3
iHOPPKP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:10:48 CEST 2017

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