JUP (Junction Plakoglobin)
Key component of desmosomes and adherens junctions, involved in cell adhesion and signaling
Gene Information Card
| Symbol | JUP |
|---|---|
| Full Name | Junction Plakoglobin |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 3728 ncbi.nlm.nih.gov/gene/3728 |
| Ensembl ID | ENSG00000173801 |
| UniProt ID | P14923 |
| OMIM ID | 173325 |
| HGNC ID | 6207 |
| Aliases | DP3, PDGB, PKGB, ARVD12, CTNNG, plakoglobin |
Description
The JUP gene encodes junction plakoglobin (also known as gamma-catenin), a cytoplasmic protein that is a major component of desmosomes and adherens junctions. It links cadherins to the intermediate filament cytoskeleton, playing a critical role in cell-cell adhesion and tissue integrity. Mutations in JUP are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) and Naxos disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | Disruption of desmosome integrity leads to myocyte detachment and fibrofatty replacement | ClinVar, OMIM |
| Naxos disease | Homozygous deletion in JUP causes loss of plakoglobin function, resulting in ARVC, palmoplantar keratoderma, and woolly hair | OMIM, NCBI |
| Palmoplantar keratoderma with woolly hair | Same homozygous mutation as Naxos disease; skin and hair phenotype due to defective desmosomes | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 32.1 | High |
| Skin | 28.5 | High |
| Esophagus | 25.0 | High |
| Breast | 18.2 | Medium |
| Lung | 15.6 | Medium |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 35.0 | High expression |
| Keratinocytes (HaCaT) | 30.2 | High expression |
| MCF7 (breast cancer) | 20.1 | Medium expression |
| A549 (lung cancer) | 14.5 | Medium expression |
| HepG2 (liver cancer) | 6.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2157_2158delGT | Frameshift deletion | Rare | Loss of function – truncated protein |
| c.2034C>T (p.Gln678Ter) | Nonsense | Rare | Premature stop, loss of function |
| c.523G>A (p.Gly175Arg) | Missense | Rare | Impaired desmosome assembly |
| c.1771_1772insT | Insertion | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most JUP mutations are loss-of-function, leading to haploinsufficiency or truncated proteins that disrupt desmosome integrity.
Gain of Function (GOF)
No gain-of-function mutations reported for JUP.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type plakoglobin incorporation into desmosomes.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • cell-cell adherens junction (GO:0005913) |
| • desmosome (GO:0030057) | • structural molecule activity (GO:0005198) |
| • plasma membrane (GO:0005886) | • cell-cell junction (GO:0005911) |
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Adherens junction – KEGG hsa04520
• Desmosome assembly – Reactome R-HSA-157858
• Wnt signaling pathway (plakoglobin as transcriptional coactivator) – KEGG hsa04310
Protein Summary
Junction plakoglobin (gamma-catenin) is a 745-amino acid protein with 12 armadillo repeats. It localizes to desmosomes and adherens junctions, where it binds cadherins and links to intermediate filaments (desmin in muscle, keratins in epithelium). It also shuttles to the nucleus to modulate Wnt/β-catenin signaling. Loss of function leads to cell adhesion defects, particularly in heart and skin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JUP Knockout HEK293 Cell Line | EDJ-KQ4232 | Human | 3728 | Details Get a Quote |
| JUP Knockout A-549 Cell Line | EDJ-KQ27927 | Human | 3728 | Details Get a Quote |
| JUP Knockout HCT 116 Cell Line | EDJ-KQ27929 | Human | 3728 | Details Get a Quote |
| JUP Knockout HeLa Cell Line | EDJ-KQ27930 | Human | 3728 | Details Get a Quote |
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