JUP Chromosome 17
Junction plakoglobin
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 |
|---|---|---|---|
| RS794729040 | Health Risk | Conflicting classifications of pathogenicity | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype |
| RS869025443 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS886037753 | Health Risk | Conflicting classifications of pathogenicity | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype |
| RS886052917 | Health Risk | Conflicting classifications of pathogenicity | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS887639693 | Health Risk | Conflicting classifications of pathogenicity | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype |
| RS1340949974 | Health Risk | Likely pathogenic | Naxos disease, Naxos disease |
| RS1555602080 | Health Risk | Likely pathogenic | Naxos disease, Naxos disease |
| RS1915470891 | Health Risk | Likely pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS2143591648 | Health Risk | Likely pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2143592085 | Health Risk | Likely pathogenic | — |
| RS2544050841 | Health Risk | Likely pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2544109091 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS373761090 | Health Risk | Likely pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS113994177 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS145592971 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype |
| RS1555602420 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS1555606936 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS1597782553 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 12, Naxos disease, Arrhythmogenic right ventricular dysplasia 12 |
| RS1597801392 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2143416425 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2143426682 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2143456924 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2143651415 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2143680611 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2143683612 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2143697976 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2544036992 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2544109573 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2544127550 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2544160342 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS2544179444 | Health Risk | Pathogenic | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS782460555 | Health Risk | Pathogenic | Naxos disease, Naxos disease |
| RS797046139 | Health Risk | Pathogenic | Naxos disease, Naxos disease |