Gene

Jup

Species
Mus musculus
Symbol
Jup
Name
junction plakoglobin
Synonyms
  • AL022715
  • AW545708
Biotype
protein coding gene
Automated Description
Enables alpha-catenin binding activity. Acts upstream of or within cell-cell adhesion; desmosome assembly; and skin development. Located in several cellular components, including Z disc; adherens junction; and intermediate filament. Part of catenin complex. Is active in cornified envelope. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system; and sensory organ. Used to study arrhythmogenic right ventricular dysplasia 12 and epidermolytic hyperkeratosis. Human ortholog(s) of this gene implicated in cardiomyopathy (multiple); palmoplantar keratosis (multiple); renal cell carcinoma; and reproductive organ cancer (multiple). Orthologous to human JUP (junction plakoglobin).
MGI Description
PHENOTYPE: Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45976
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
100.260M100.265M100.270M100.275M100.280M100.285M

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions