JUP Chromosome 17

Junction plakoglobin
183 variants 183 Health Risk

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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
RS727504940 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, JUP-related disorder
RS730880114 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12
RS752594411 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS763261901 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS781788038 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS781804177 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS781857012 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS781883243 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS781934535 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS781965392 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS781970079 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS781978743 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS781982717 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS781999758 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782010606 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782058451 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782076415 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Naxos disease
RS782094877 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS782130740 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782135453 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782165604 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS782176670 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS782191490 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782203227 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782211863 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782241125 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS782261124 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS782284038 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS782301706 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS782309611 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782341732 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS782370709 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782439900 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS782465804 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782475413 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS782493861 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS782509792 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782565128 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782622653 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782647137 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782648921 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782658008 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782693565 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782699765 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782702266 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782704213 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiomyopathy
RS782733459 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782737074 Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
RS782765314 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype
RS78437817 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
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