DSG4 Chromosome 18
Desmoglein 4
Upload your DNA to see your personal genotypes for variants in DSG4.
What This Gene Does
This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016]
Gene Info
Gene Group
Desmosomal cadherins
Locus Type
gene with protein product
Location
18q12.1
Ensembl
ENSG00000175065
Associated Conditions (3)
Hypotrichosis 6
Inborn genetic diseases
DSG4-related disorder
Key Variants
RS117592021
Conflicting classifications of pathogenicity
Hypotrichosis 6, Hypotrichosis 6
Health Risk
RS139102330
Conflicting classifications of pathogenicity
Hypotrichosis 6, Inborn genetic diseases, Hypotrichosis 6
Health Risk
RS140423185
Conflicting classifications of pathogenicity
Hypotrichosis 6, Inborn genetic diseases, Hypotrichosis 6
Health Risk
RS140750904
Conflicting classifications of pathogenicity
Hypotrichosis 6, Hypotrichosis 6
Health Risk
RS142106072
Conflicting classifications of pathogenicity
Hypotrichosis 6, DSG4-related disorder, Hypotrichosis 6
Health Risk
RS142656757
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143288405
Conflicting classifications of pathogenicity
Hypotrichosis 6, DSG4-related disorder, Hypotrichosis 6
Health Risk
RS143590546
Conflicting classifications of pathogenicity
Hypotrichosis 6, Hypotrichosis 6
Health Risk
RS144490546
Conflicting classifications of pathogenicity
Hypotrichosis 6, Inborn genetic diseases, DSG4-related disorder
Health Risk
RS144494183
Conflicting classifications of pathogenicity
Hypotrichosis 6, Hypotrichosis 6
Health Risk
RS145078681
Conflicting classifications of pathogenicity
Hypotrichosis 6, Hypotrichosis 6
Health Risk
RS148418252
Conflicting classifications of pathogenicity
Hypotrichosis 6, Inborn genetic diseases, Hypotrichosis 6
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117592021 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Hypotrichosis 6 |
| RS139102330 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Inborn genetic diseases, Hypotrichosis 6 |
| RS140423185 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Inborn genetic diseases, Hypotrichosis 6 |
| RS140750904 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Hypotrichosis 6 |
| RS142106072 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, DSG4-related disorder, Hypotrichosis 6 |
| RS142656757 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143288405 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, DSG4-related disorder, Hypotrichosis 6 |
| RS143590546 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Hypotrichosis 6 |
| RS144490546 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Inborn genetic diseases, DSG4-related disorder |
| RS144494183 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Hypotrichosis 6 |
| RS145078681 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Hypotrichosis 6 |
| RS148418252 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Inborn genetic diseases, Hypotrichosis 6 |
| RS149724713 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Hypotrichosis 6 |
| RS150614630 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150676638 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, DSG4-related disorder, Hypotrichosis 6 |
| RS150706241 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, DSG4-related disorder, Hypotrichosis 6 |
| RS151048983 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Hypotrichosis 6 |
| RS151238705 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, DSG4-related disorder, Inborn genetic diseases |
| RS151254406 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, DSG4-related disorder, Hypotrichosis 6 |
| RS16961847 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Hypotrichosis 6 |
| RS200288878 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, DSG4-related disorder, Hypotrichosis 6 |
| RS200908109 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS35378785 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, DSG4-related disorder, Hypotrichosis 6 |
| RS36040686 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, DSG4-related disorder, Hypotrichosis 6 |
| RS375850397 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Hypotrichosis 6 |
| RS545855902 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Hypotrichosis 6 |
| RS577438163 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS74755361 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Hypotrichosis 6 |
| RS749087566 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776232998 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 6, Hypotrichosis 6 |
| RS898610495 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1325804776 | Health Risk | Likely pathogenic | Hypotrichosis 6, Hypotrichosis 6 |
| RS267606777 | Health Risk | Likely pathogenic | Hypotrichosis 6, Hypotrichosis 6 |
| RS756862725 | Health Risk | Likely pathogenic | — |
| RS1462595806 | Health Risk | Pathogenic | Hypotrichosis 6, Hypotrichosis 6 |
| RS1568062215 | Health Risk | Pathogenic | Hypotrichosis 6, Hypotrichosis 6 |
| RS2144169578 | Health Risk | Pathogenic | Hypotrichosis 6, Hypotrichosis 6 |
| RS267606775 | Health Risk | Pathogenic | Hypotrichosis 6, Hypotrichosis 6 |
| RS267606776 | Health Risk | Pathogenic | Hypotrichosis 6, Hypotrichosis 6 |
| RS377271913 | Health Risk | Pathogenic | — |
| RS767724665 | Health Risk | Pathogenic | Hypotrichosis 6, Hypotrichosis 6 |
| RS786200875 | Health Risk | Pathogenic | Hypotrichosis 6, Hypotrichosis 6 |