JUP Chromosome 17

Junction plakoglobin
183 variants 183 Health Risk

Upload your DNA to see your personal genotypes for variants in JUP.

What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Armadillo repeat containing|Beta catenins"
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000173801
Associated Conditions (22)
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Cardiomyopathy
Uterine corpus endometrial carcinoma
Lung cancer
Cervical cancer
Primary dilated cardiomyopathy
Wolff-Parkinson-White pattern
JUP-related disorder
Hypertrophic cardiomyopathy
non-syndromic arrhythmogenic right ventricular cardiomyopathy
Ventricular fibrillation
paroxysmal familial
type 1
Left ventricular hypertrophy
Primary familial hypertrophic cardiomyopathy
Conduction disorder of the heart
Left ventricular noncompaction cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
+2 more conditions
Key Variants
RS1012247750
Conflicting classifications of pathogenicity
Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
Health Risk
RS1021325325
Conflicting classifications of pathogenicity
Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
Health Risk
RS111344340
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
Health Risk
RS112879398
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Naxos disease
Health Risk
RS113317262
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
Health Risk
RS115919416
Conflicting classifications of pathogenicity
Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
Health Risk
RS116666639
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Uterine corpus endometrial carcinoma
Health Risk
RS1206301205
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
Health Risk
RS1278511367
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
Health Risk
RS1285789744
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
Health Risk
RS137989964
Conflicting classifications of pathogenicity
Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
Health Risk
RS138397457
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
Health Risk
All Variants (183)
RSID Category Clinical Significance Conditions
RS200019016 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS200221163 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS200222165 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS200283001 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS200327969 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial, type 1
RS200690479 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS200740462 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS200976464 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS202038498 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS202091411 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS2143735253 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS34890640 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS368271628 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS368336007 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy
RS368479692 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS369507567 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS369755953 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS370143312 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS371481933 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS371508357 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS371988639 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiomyopathy
RS372364561 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS372369061 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS374566089 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS375016135 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiomyopathy
RS375451560 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS375788626 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS376043057 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS376051686 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Left ventricular noncompaction
RS376123010 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS376391674 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS376608339 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS376699725 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS376881608 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS397517298 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS397517301 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS41275669 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS530653041 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, JUP-related disorder
RS531732438 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS542144750 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS542745694 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS543862977 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS552101358 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS554046226 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS555499592 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS55634776 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS55919561 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS570878629 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS571375136 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS727504778 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
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