Gene: JUP

Alternate names for this Gene: CTNNG|DP3|DPIII|PDGB|PKGB

Gene Summary: This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.2

Description of this Gene: junction plakoglobin

Type of Gene: protein-coding

rs570878629 in JUP gene and Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 17924338 2007 A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.

rs41283425 in JUP gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.