Gene
jupa
- ID
- ZDB-GENE-991207-22
- Name
- junction plakoglobin a
- Symbol
- jupa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have several functions, including alpha-catenin binding activity; cadherin binding activity; and transcription coactivator activity. Involved in atrioventricular valve morphogenesis and negative regulation of Wnt signaling pathway involved in heart development. Localizes to several cellular components, including adherens junction; catenin complex; and desmosome. Human ortholog(s) of this gene implicated in cardiomyopathy (multiple); palmoplantar keratosis (multiple); renal cell carcinoma; and reproductive organ cancer (multiple). Is expressed in several structures, including EVL; ectoderm; forerunner cell group; sensory system; and solid lens vesicle. Orthologous to human JUP (junction plakoglobin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 18 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55216 (15 images)
- cb80 (11 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arrhythmogenic right ventricular dysplasia 12 | Alliance | ?Arrhythmogenic right ventricular dysplasia 12 | 611528 |
| Naxos disease | Alliance | Naxos disease | 601214 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Armadillo | Armadillo-like helical | Armadillo-type fold | Beta-catenin |
|---|---|---|---|---|---|
|
UniProtKB:Q9PVF7
|
729 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-jup | monoclonal | IgG2a | Mouse |
|
BD Biosciences
|
6 |
Plasmids
No data available