DSC3 Chromosome 18
Desmocollin 3
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What This Gene Does
The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
Desmosomal cadherins
Locus Type
gene with protein product
Location
18q12.1
Ensembl
ENSG00000134762
Associated Conditions (3)
Malignant tumor of urinary bladder
Hereditary hypotrichosis with recurrent skin vesicles
Sarcoma
Key Variants
RS138874577
Conflicting classifications of pathogenicity
Health Risk
RS142851621
Conflicting classifications of pathogenicity
Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
Health Risk
RS145045316
Likely pathogenic
Hereditary hypotrichosis with recurrent skin vesicles, Sarcoma, Hereditary hypotrichosis with recurrent skin vesicles
Health Risk
RS2510894240
Likely pathogenic
Health Risk
RS771238740
Likely pathogenic
Hereditary hypotrichosis with recurrent skin vesicles, Hereditary hypotrichosis with recurrent skin vesicles
Health Risk
RS137852782
Pathogenic
Hereditary hypotrichosis with recurrent skin vesicles, Hereditary hypotrichosis with recurrent skin vesicles
Health Risk
RS2144681220
Pathogenic
Hereditary hypotrichosis with recurrent skin vesicles, Hereditary hypotrichosis with recurrent skin vesicles
Health Risk
RS551319355
Pathogenic/Likely pathogenic
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138874577 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142851621 | Health Risk | Conflicting classifications of pathogenicity | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS145045316 | Health Risk | Likely pathogenic | Hereditary hypotrichosis with recurrent skin vesicles, Sarcoma, Hereditary hypotrichosis with recurrent skin vesicles |
| RS2510894240 | Health Risk | Likely pathogenic | — |
| RS771238740 | Health Risk | Likely pathogenic | Hereditary hypotrichosis with recurrent skin vesicles, Hereditary hypotrichosis with recurrent skin vesicles |
| RS137852782 | Health Risk | Pathogenic | Hereditary hypotrichosis with recurrent skin vesicles, Hereditary hypotrichosis with recurrent skin vesicles |
| RS2144681220 | Health Risk | Pathogenic | Hereditary hypotrichosis with recurrent skin vesicles, Hereditary hypotrichosis with recurrent skin vesicles |
| RS551319355 | Health Risk | Pathogenic/Likely pathogenic | — |