USP18 Chromosome 22
Ubiquitin specific peptidase 18
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What This Gene Does
The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Ubiquitin specific peptidases
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000184979
Associated Conditions (2)
Inborn genetic diseases
Pseudo-TORCH syndrome 2
Key Variants
RS200388263
Conflicting classifications of pathogenicity
Inborn genetic diseases, Pseudo-TORCH syndrome 2, Inborn genetic diseases
Health Risk
RS780516925
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1085307118
Likely pathogenic
Pseudo-TORCH syndrome 2, Pseudo-TORCH syndrome 2
Health Risk
RS2517176522
Likely pathogenic
Pseudo-TORCH syndrome 2, Pseudo-TORCH syndrome 2
Health Risk
RS1602534094
Pathogenic/Likely pathogenic
Pseudo-TORCH syndrome 2, Pseudo-TORCH syndrome 2
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200388263 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Pseudo-TORCH syndrome 2, Inborn genetic diseases |
| RS780516925 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1085307118 | Health Risk | Likely pathogenic | Pseudo-TORCH syndrome 2, Pseudo-TORCH syndrome 2 |
| RS2517176522 | Health Risk | Likely pathogenic | Pseudo-TORCH syndrome 2, Pseudo-TORCH syndrome 2 |
| RS1602534094 | Health Risk | Pathogenic/Likely pathogenic | Pseudo-TORCH syndrome 2, Pseudo-TORCH syndrome 2 |