DSC2 Chromosome 18
Desmocollin 2
Upload your DNA to see your personal genotypes for variants in DSC2.
What This Gene Does
This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Gene Info
Gene Group
Desmosomal cadherins
Locus Type
gene with protein product
Location
18q12.1
Ensembl
ENSG00000134755
Associated Conditions (24)
Arrhythmogenic right ventricular dysplasia 11
Cardiovascular phenotype
Familial isolated arrhythmogenic right ventricular dysplasia
Cardiomyopathy
DSC2-related disorder
Primary familial dilated cardiomyopathy
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia 1
Primary familial hypertrophic cardiomyopathy
Long QT syndrome
Cardiac arrhythmia
Primary dilated cardiomyopathy
Gastric cancer
Malignant tumor of esophagus
See cases
Dilated cardiomyopathy 1A
Arrhythmogenic right ventricular dysplasia
familial
11
+4 more conditions
Key Variants
RS1022023137
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype, Familial isolated arrhythmogenic right ventricular dysplasia
Health Risk
RS1023394201
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1060502992
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia, Cardiovascular phenotype
Health Risk
RS1064793731
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia, Cardiomyopathy
Health Risk
RS112532429
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1157312147
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
Health Risk
RS1163344946
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia, Cardiomyopathy
Health Risk
RS1170934513
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Familial isolated arrhythmogenic right ventricular dysplasia
Health Risk
RS1191093439
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
Health Risk
RS1206662571
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
Health Risk
RS1227564823
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia
Health Risk
RS1245669690
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy, Cardiovascular phenotype
Health Risk
All Variants (270)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2510952501 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11 |
| RS2510953750 | Health Risk | Pathogenic | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype |
| RS2510953759 | Health Risk | Pathogenic | — |
| RS2510953787 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2510954942 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2510956114 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS397514041 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 |
| RS397514043 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia, familial, 11 |
| RS768389941 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 |
| RS769022411 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 |
| RS878853170 | Health Risk | Pathogenic | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 |
| RS887847751 | Health Risk | Pathogenic | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia |
| RS909786635 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11 |
| RS1064795963 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 |
| RS145476705 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype |
| RS1555637555 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 |
| RS1555640399 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 |
| RS1555641322 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 |
| RS1598592533 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 |
| RS963715928 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11 |