JUP (junction plakoglobin)

2003-11-01  

Identity

HGNC
LOCATION
17q21.2
LOCUSID
ALIAS
CTNNG,DP3,DPIII,PDGB,PG,PKGB
FUSION GENES

Other Information

Locus ID:

NCBI: 3728
MIM: 173325
HGNC: 6207
Ensembl: ENSG00000173801

Variants:

dbSNP: 3728
ClinVar: 3728
TCGA: ENSG00000173801
COSMIC: JUP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173801ENST00000310706P14923
ENSG00000173801ENST00000310706A0A0S2Z487
ENSG00000173801ENST00000393930P14923
ENSG00000173801ENST00000393930A0A0S2Z487
ENSG00000173801ENST00000393931P14923
ENSG00000173801ENST00000393931A0A0S2Z487
ENSG00000173801ENST00000420370C9J826
ENSG00000173801ENST00000424457C9JTX4
ENSG00000173801ENST00000437187C9JK18
ENSG00000173801ENST00000437369C9JPI2
ENSG00000173801ENST00000449889C9JKY1
ENSG00000173801ENST00000591690K7ERP3

Expression (GTEx)

0
500
1000
1500

Pathways

PathwaySourceExternal ID
Acute myeloid leukemiaKEGGko05221
Pathways in cancerKEGGhsa05200
Acute myeloid leukemiaKEGGhsa05221
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated vascular permeabilityREACTOMER-HSA-5218920
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Cell-cell junction organizationREACTOMER-HSA-421270
Adherens junctions interactionsREACTOMER-HSA-418990
Developmental BiologyREACTOMER-HSA-1266738
Neutrophil degranulationREACTOMER-HSA-6798695
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
146610542004Plakoglobin (gamma-catenin) has TCF/LEF family-dependent transcriptional activity in beta-catenin-deficient cell line.65
179243382007A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.62
200316172009Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.61
204004432010Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.48
231786892013Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy.44
129394022003Heregulin targets gamma-catenin to the nucleolus by a mechanism dependent on the DF3/MUC1 oncoprotein.40
188370822008Reduced expression of E-cadherin/catenin complex in hepatocellular carcinomas.37
218598012011Altered desmosomal proteins in granulomatous myocarditis and potential pathogenic links to arrhythmogenic right ventricular cardiomyopathy.36
145173062003Tyrosine phosphorylation of plakoglobin causes contrary effects on its association with desmosomes and adherens junction components and modulates beta-catenin-mediated transcription.34
123868122002gamma-Catenin expression is reduced or absent in a subset of human lung cancers and re-expression inhibits transformed cell growth.32

Citation

Dessen P

JUP (junction plakoglobin)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/449/jup