OTUD5 Chromosome X
OTU deubiquitinase 5
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What This Gene Does
This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response by cleaving the polyubiquitin chain from an essential type I interferon adaptor protein. Cleavage results in disassociation of the adaptor protein from a downstream signaling complex and disruption of the type I interferon signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
OTU domain containing
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000068308
Associated Conditions (4)
OTUD5-related disorder
Inborn genetic diseases
Multiple congenital anomalies-neurodevelopmental syndrome
X-linked
Key Variants
RS1447498742
Conflicting classifications of pathogenicity
OTUD5-related disorder, OTUD5-related disorder
Health Risk
RS782153790
Conflicting classifications of pathogenicity
Inborn genetic diseases, Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
Health Risk
RS782695409
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2519708540
Likely pathogenic
Inborn genetic diseases, Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
Health Risk
RS2519728724
Likely pathogenic
OTUD5-related disorder, OTUD5-related disorder
Health Risk
RS2063620799
Pathogenic
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, Multiple congenital anomalies-neurodevelopmental syndrome
Health Risk
RS2063659512
Pathogenic
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, Multiple congenital anomalies-neurodevelopmental syndrome
Health Risk
RS2063801903
Pathogenic
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, Multiple congenital anomalies-neurodevelopmental syndrome
Health Risk
RS2063984022
Pathogenic
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, Multiple congenital anomalies-neurodevelopmental syndrome
Health Risk
RS2147523033
Pathogenic
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, Multiple congenital anomalies-neurodevelopmental syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1447498742 | Health Risk | Conflicting classifications of pathogenicity | OTUD5-related disorder, OTUD5-related disorder |
| RS782153790 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Multiple congenital anomalies-neurodevelopmental syndrome, X-linked |
| RS782695409 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2519708540 | Health Risk | Likely pathogenic | Inborn genetic diseases, Multiple congenital anomalies-neurodevelopmental syndrome, X-linked |
| RS2519728724 | Health Risk | Likely pathogenic | OTUD5-related disorder, OTUD5-related disorder |
| RS2063620799 | Health Risk | Pathogenic | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, Multiple congenital anomalies-neurodevelopmental syndrome |
| RS2063659512 | Health Risk | Pathogenic | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, Multiple congenital anomalies-neurodevelopmental syndrome |
| RS2063801903 | Health Risk | Pathogenic | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, Multiple congenital anomalies-neurodevelopmental syndrome |
| RS2063984022 | Health Risk | Pathogenic | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, Multiple congenital anomalies-neurodevelopmental syndrome |
| RS2147523033 | Health Risk | Pathogenic | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, Multiple congenital anomalies-neurodevelopmental syndrome |