DSG2 Chromosome 18
Desmoglein 2
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What This Gene Does
This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Desmosomal cadherins
Locus Type
gene with protein product
Location
18q12.1
Ensembl
ENSG00000046604
Associated Conditions (21)
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 10
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy 1BB
Cardiac arrest
Hypertrophic cardiomyopathy
DSG2-related disorder
Primary familial hypertrophic cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Long QT syndrome
Primary dilated cardiomyopathy
Thyroid cancer
nonmedullary
1
Conduction disorder of the heart
Familial cancer of breast
Left ventricular noncompaction cardiomyopathy
Intellectual disability
Sudden cardiac death
+1 more conditions
Key Variants
RS1012160082
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1021457619
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
Health Risk
RS1024370144
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1045381049
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy
Health Risk
RS1057520867
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1064794709
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
Health Risk
RS113451409
Conflicting classifications of pathogenicity
Cardiac arrest, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS114544564
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Health Risk
RS1165139589
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
Health Risk
RS1175183896
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
Health Risk
RS1179912383
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
Health Risk
RS1191142951
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, DSG2-related disorder
Health Risk
All Variants (303)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765347389 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype |
| RS775256998 | Health Risk | Pathogenic/Likely pathogenic | Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB |
| RS794728100 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |