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PKP3 (plakophilin 3)

Identity

Alias (NCBI)-
HGNC (Hugo) PKP3
LocusID (NCBI) 11187
Atlas_Id 50409
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 394209 and ends at 404908 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    plakophilin 3
Aliases
GeneCards (Weizmann)PKP3
Ensembl hg19 (Hinxton)ENSG00000184363 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184363 [Gene_View]  ENSG00000184363 [Sequence]  chr11:394209-404908 [Contig_View]  PKP3 [Vega]
ICGC DataPortalENSG00000184363
TCGA cBioPortalPKP3
AceView (NCBI)PKP3
Genatlas (Paris)PKP3
SOURCE (Princeton)PKP3
Genetics Home Reference (NIH)PKP3
Genomic and cartography
GoldenPath hg38 (UCSC)PKP3  -     chr11:394209-404908 +  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKP3  -     11p15.5   [Description]    (hg19-Feb_2009)
GoldenPathPKP3 - 11p15.5 [CytoView hg19]  PKP3 - 11p15.5 [CytoView hg38]
ImmunoBaseENSG00000184363
Genome Data Viewer NCBIPKP3 [Mapview hg19]  
OMIM605561   
Gene and transcription
Genbank (Entrez)AF053719 AK025067 AK223511 BC000081 BG611119
RefSeq transcript (Entrez)NM_001303029 NM_007183
Consensus coding sequences : CCDS (NCBI)PKP3
Gene ExpressionPKP3 [ NCBI-GEO ]   PKP3 [ EBI - ARRAY_EXPRESS ]   PKP3 [ SEEK ]   PKP3 [ MEM ]
Gene Expression Viewer (FireBrowse)PKP3 [ Firebrowse - Broad ]
GenevisibleExpression of PKP3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11187
GTEX Portal (Tissue expression)PKP3
Human Protein AtlasENSG00000184363-PKP3 [pathology]   [cell]   [tissue]
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
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
SuperfamilyQ9Y446
AlphaFold pdb e-kbQ9Y446   
Human Protein Atlas [tissue]ENSG00000184363-PKP3 [tissue]
HPRD05711
Protein Interaction databases
DIP (DOE-UCLA)Q9Y446
IntAct (EBI)Q9Y446
BioGRIDPKP3
STRING (EMBL)PKP3
ZODIACPKP3
Ontologies - Pathways
QuickGOQ9Y446
Ontology : AmiGOcornified envelope  desmosome assembly  RNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  plasma membrane  plasma membrane  plasma membrane  cell-cell junction  adherens junction  adherens junction  regulation of translation  cell-cell junction assembly  positive regulation of gene expression  enzyme binding  cell junction  desmosome  translation regulator activity  alpha-catenin binding  cadherin binding  cell adhesion molecule binding  protein localization to plasma membrane  cell-cell adhesion  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  nucleus  nucleoplasm  cytoplasm  plasma membrane  plasma membrane  plasma membrane  cell-cell junction  adherens junction  adherens junction  regulation of translation  cell-cell junction assembly  positive regulation of gene expression  enzyme binding  cell junction  desmosome  translation regulator activity  alpha-catenin binding  cadherin binding  cell adhesion molecule binding  protein localization to plasma membrane  cell-cell adhesion  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
Homologs : HomoloGenePKP3
Homology/Alignments : Family Browser (UCSC)PKP3
Gene fusions - Rearrangements
Fusion : QuiverPKP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKP3
dbVarPKP3
ClinVarPKP3
MonarchPKP3
1000_GenomesPKP3 
Exome Variant ServerPKP3
GNOMAD BrowserENSG00000184363
Varsome BrowserPKP3
ACMGPKP3 variants
VarityQ9Y446
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]  
Somatic Mutations in Cancer : COSMIC3DPKP3
Mutations and Diseases : HGMDPKP3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPKP3
DgiDB (Drug Gene Interaction Database)PKP3
DoCM (Curated mutations)PKP3
CIViC (Clinical Interpretations of Variants in Cancer)PKP3
Cancer3DPKP3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605561   
Orphanet
DisGeNETPKP3
MedgenPKP3
Genetic Testing Registry PKP3
NextProtQ9Y446 [Medical]
GENETestsPKP3
Target ValidationPKP3
Huge Navigator PKP3 [HugePedia]
ClinGenPKP3
Clinical trials, drugs, therapy
MyCancerGenomePKP3
Protein Interactions : CTDPKP3
Pharm GKB GenePA33358
PharosQ9Y446
Clinical trialPKP3
Miscellaneous
canSAR (ICR)PKP3
HarmonizomePKP3
ARCHS4PKP3
DataMed IndexPKP3
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPKP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:52:29 CET 2022

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