Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

JUP (junction plakoglobin)

Identity

Alias_namesCTNNG
catenin (cadherin-associated protein)
Alias_symbol (synonym)DP3
PDGB
PKGB
DPIII
Other aliasARVD12
HGNC (Hugo) JUP
LocusID (NCBI) 3728
Atlas_Id 449
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 39910859 and ends at 39942964 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
APOA2 (1q23.3) / JUP (17q21.2)CTC-203F4.1 () / JUP (17q21.2)GABRE (Xq28) / JUP (17q21.2)
GAPDH (12p13.31) / JUP (17q21.2)GOSR1 (17q11.2) / JUP (17q21.2)IDH3B (20p13) / JUP (17q21.2)
IRF6 (1q32.2) / JUP (17q21.2)JUP (17q21.2) / ADCY2 (5p15.31)JUP (17q21.2) / ANKRD52 (12q13.3)
JUP (17q21.2) / CUL3 (2q36.2)JUP (17q21.2) / DDX41 (5q35.3)JUP (17q21.2) / ECHS1 (10q26.3)
JUP (17q21.2) / JUP (17q21.2)JUP (17q21.2) / NRG3 (10q23.1)JUP (17q21.2) / OR13C5 (9q31.1)
JUP (17q21.2) / OR13C9 (9q31.1)JUP (17q21.2) / PPP1R11 (6p22.1)JUP (17q21.2) / SNAPC1 (14q23.2)
JUP (17q21.2) / TAOK3 (12q24.23)KNDC1 (10q26.3) / JUP (17q21.2)LAMA3 (18q11.2) / JUP (17q21.2)
MYH9 (22q12.3) / JUP (17q21.2)NAA20 (20p11.23) / JUP (17q21.2)NOL4L20q11.21 () / JUP (17q21.2)
PLCB2 (15q15.1) / JUP (17q21.2)RALY (20q11.22) / JUP (17q21.2)RHBDD2 (7q11.23) / JUP (17q21.2)
XBP1 (22q12.1) / JUP (17q21.2)CTC-203F4.1 JUP 17q21.2GOSR1 17q11.2 / JUP 17q21.2

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)JUP   6207
LRG (Locus Reference Genomic)LRG_401
Cards
Entrez_Gene (NCBI)JUP  3728  junction plakoglobin
AliasesARVD12; CTNNG; DP3; DPIII; 
PDGB; PKGB
GeneCards (Weizmann)JUP
Ensembl hg19 (Hinxton)ENSG00000173801 [Gene_View]  chr17:39910859-39942964 [Contig_View]  JUP [Vega]
Ensembl hg38 (Hinxton)ENSG00000173801 [Gene_View]  chr17:39910859-39942964 [Contig_View]  JUP [Vega]
ICGC DataPortalENSG00000173801
TCGA cBioPortalJUP
AceView (NCBI)JUP
Genatlas (Paris)JUP
WikiGenes3728
SOURCE (Princeton)JUP
Genetics Home Reference (NIH)JUP
Genomic and cartography
GoldenPath hg19 (UCSC)JUP  -     chr17:39910859-39942964 -  17q21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)JUP  -     17q21.2   [Description]    (hg38-Dec_2013)
EnsemblJUP - 17q21.2 [CytoView hg19]  JUP - 17q21.2 [CytoView hg38]
Mapping of homologs : NCBIJUP [Mapview hg19]  JUP [Mapview hg38]
OMIM173325   601214   611528   
Gene and transcription
Genbank (Entrez)AK226051 AY243535 BC000441 BC011865 DQ891420
RefSeq transcript (Entrez)NM_002230 NM_021991
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_009090 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)JUP
Cluster EST : UnigeneHs.514174 [ NCBI ]
CGAP (NCI)Hs.514174
Alternative Splicing GalleryENSG00000173801
Gene ExpressionJUP [ NCBI-GEO ]   JUP [ EBI - ARRAY_EXPRESS ]   JUP [ SEEK ]   JUP [ MEM ]
Gene Expression Viewer (FireBrowse)JUP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3728
GTEX Portal (Tissue expression)JUP
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14923   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP14923  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14923
Splice isoforms : SwissVarP14923
PhosPhoSitePlusP14923
Domaine pattern : Prosite (Expaxy)ARM_REPEAT (PS50176)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Armadillo    Beta-catenin    Plakoglobin/HMP-2   
Domain families : Pfam (Sanger)Arm (PF00514)   
Domain families : Pfam (NCBI)pfam00514   
Domain families : Smart (EMBL)ARM (SM00185)  
Conserved Domain (NCBI)JUP
DMDM Disease mutations3728
Blocks (Seattle)JUP
PDB (SRS)3IFQ   
PDB (PDBSum)3IFQ   
PDB (IMB)3IFQ   
PDB (RSDB)3IFQ   
Structural Biology KnowledgeBase3IFQ   
SCOP (Structural Classification of Proteins)3IFQ   
CATH (Classification of proteins structures)3IFQ   
SuperfamilyP14923
Human Protein AtlasENSG00000173801
Peptide AtlasP14923
HPRD01414
IPIIPI00554711   IPI00789324   IPI00791432   IPI00790671   IPI00788705   IPI00789318   
Protein Interaction databases
DIP (DOE-UCLA)P14923
IntAct (EBI)P14923
FunCoupENSG00000173801
BioGRIDJUP
STRING (EMBL)JUP
ZODIACJUP
Ontologies - Pathways
QuickGOP14923
Ontology : AmiGOdesmosome assembly  desmosome assembly  transcription coactivator activity  signal transducer activity  structural molecule activity  structural constituent of cell wall  protein binding  nucleus  cytoplasm  cytosol  cytoskeleton  intermediate filament  plasma membrane  plasma membrane  cell-cell junction  cell-cell adherens junction  zonula adherens  fascia adherens  focal adhesion  cytoskeletal anchoring at plasma membrane  signal transduction  cytoplasmic side of plasma membrane  intercalated disc  actin cytoskeleton  apicolateral plasma membrane  lateral plasma membrane  single organismal cell-cell adhesion  single organismal cell-cell adhesion  catenin complex  cell migration  protein kinase binding  protein phosphatase binding  Z disc  hemidesmosome  desmosome  protein-DNA complex  adherens junction organization  adherens junction assembly  regulation of cell proliferation  positive regulation of protein import into nucleus  protein homodimerization activity  skin development  alpha-catenin binding  cadherin binding  cell adhesion molecule binding  detection of mechanical stimulus  positive regulation of sequence-specific DNA binding transcription factor activity  protein heterooligomerization  extracellular exosome  endothelial cell-cell adhesion  gamma-catenin-TCF7L2 complex  cellular response to indole-3-methanol  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  positive regulation of canonical Wnt signaling pathway  regulation of ventricular cardiac muscle cell action potential  
Ontology : EGO-EBIdesmosome assembly  desmosome assembly  transcription coactivator activity  signal transducer activity  structural molecule activity  structural constituent of cell wall  protein binding  nucleus  cytoplasm  cytosol  cytoskeleton  intermediate filament  plasma membrane  plasma membrane  cell-cell junction  cell-cell adherens junction  zonula adherens  fascia adherens  focal adhesion  cytoskeletal anchoring at plasma membrane  signal transduction  cytoplasmic side of plasma membrane  intercalated disc  actin cytoskeleton  apicolateral plasma membrane  lateral plasma membrane  single organismal cell-cell adhesion  single organismal cell-cell adhesion  catenin complex  cell migration  protein kinase binding  protein phosphatase binding  Z disc  hemidesmosome  desmosome  protein-DNA complex  adherens junction organization  adherens junction assembly  regulation of cell proliferation  positive regulation of protein import into nucleus  protein homodimerization activity  skin development  alpha-catenin binding  cadherin binding  cell adhesion molecule binding  detection of mechanical stimulus  positive regulation of sequence-specific DNA binding transcription factor activity  protein heterooligomerization  extracellular exosome  endothelial cell-cell adhesion  gamma-catenin-TCF7L2 complex  cellular response to indole-3-methanol  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  positive regulation of canonical Wnt signaling pathway  regulation of ventricular cardiac muscle cell action potential  
Pathways : KEGGPathways in cancer    Transcriptional misregulation in cancer    Acute myeloid leukemia    Arrhythmogenic right ventricular cardiomyopathy (ARVC)   
NDEx NetworkJUP
Atlas of Cancer Signalling NetworkJUP
Wikipedia pathwaysJUP
Orthology - Evolution
OrthoDB3728
GeneTree (enSembl)ENSG00000173801
Phylogenetic Trees/Animal Genes : TreeFamJUP
HOVERGENP14923
HOGENOMP14923
Homologs : HomoloGeneJUP
Homology/Alignments : Family Browser (UCSC)JUP
Gene fusions - Rearrangements
Fusion : MitelmanGOSR1/JUP [17q11.2/17q21.2]  [t(17;17)(q11;q21)]  
Fusion: TCGACTC-203F4.1 JUP 17q21.2 BLCA
Fusion: TCGAGOSR1 17q11.2 JUP 17q21.2 LGG
Fusion Cancer (Beijing)APOA2 [1q23.3]  -  JUP [17q21.2]  [FUSC002217]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJUP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JUP
dbVarJUP
ClinVarJUP
1000_GenomesJUP 
Exome Variant ServerJUP
ExAC (Exome Aggregation Consortium)JUP (select the gene name)
Genetic variants : HAPMAP3728
Genomic Variants (DGV)JUP [DGVbeta]
DECIPHER (Syndromes)17:39910859-39942964  ENSG00000173801
CONAN: Copy Number AnalysisJUP 
Mutations
ICGC Data PortalJUP 
TCGA Data PortalJUP 
Broad Tumor PortalJUP
OASIS PortalJUP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICJUP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDJUP
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)ARVD/C Genetic Variants Database
BioMutasearch JUP
DgiDB (Drug Gene Interaction Database)JUP
DoCM (Curated mutations)JUP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)JUP (select a term)
intoGenJUP
Cancer3DJUP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM173325    601214    611528   
Orphanet17237    20888    20887    20886    10333   
MedgenJUP
Genetic Testing Registry JUP
NextProtP14923 [Medical]
TSGene3728
GENETestsJUP
Huge Navigator JUP [HugePedia]
snp3D : Map Gene to Disease3728
BioCentury BCIQJUP
ClinGenJUP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3728
Chemical/Pharm GKB GenePA30009
Clinical trialJUP
Miscellaneous
canSAR (ICR)JUP (select the gene name)
Probes
Litterature
PubMed188 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineJUP
EVEXJUP
GoPubMedJUP
iHOPJUP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:11:23 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.