ISG15 Chromosome 1
ISG15 ubiquitin like modifier
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What This Gene Does
The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]
Associated Conditions (2)
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15-related disorder
Key Variants
RS1245686232
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Health Risk
RS138829117
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, ISG15-related disorder, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Health Risk
RS138885601
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Health Risk
RS139516378
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Health Risk
RS146063673
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Health Risk
RS374404353
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Health Risk
RS672601312
Likely pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Health Risk
RS672601345
Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Health Risk
RS786201005
Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Health Risk
RS1644247121
Pathogenic/Likely pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1245686232 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| RS138829117 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, ISG15-related disorder, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| RS138885601 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| RS139516378 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| RS146063673 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| RS374404353 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| RS672601312 | Health Risk | Likely pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| RS672601345 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| RS786201005 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| RS1644247121 | Health Risk | Pathogenic/Likely pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |