OTULIN Chromosome 5
OTU deubiquitinase with linear linkage specificity
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What This Gene Does
This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
OTU domain containing
Locus Type
gene with protein product
Location
5p15.2
Ensembl
ENSG00000154124
Associated Conditions (6)
Autoinflammation
panniculitis
and dermatosis syndrome
autosomal recessive
Immunodeficiency 107
susceptibility to invasive staphylococcus aureus infection
Key Variants
RS189738566
Conflicting classifications of pathogenicity
Autoinflammation, panniculitis, and dermatosis syndrome
Health Risk
RS750815369
Conflicting classifications of pathogenicity
Health Risk
RS1553995945
Likely pathogenic
Health Risk
RS2478185742
Likely pathogenic
Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, Immunodeficiency 107
Health Risk
RS1735786455
Pathogenic
Autoinflammation, panniculitis, and dermatosis syndrome
Health Risk
RS2478170124
Pathogenic
Autoinflammation, panniculitis, and dermatosis syndrome
Health Risk
RS2478212284
Pathogenic
Autoinflammation, panniculitis, and dermatosis syndrome
Health Risk
RS2478223717
Pathogenic
Autoinflammation, panniculitis, and dermatosis syndrome
Health Risk
RS2478223888
Pathogenic
Autoinflammation, panniculitis, and dermatosis syndrome
Health Risk
RS886037885
Pathogenic
Autoinflammation, panniculitis, and dermatosis syndrome
Health Risk
RS886037886
Pathogenic; risk factor
Autoinflammation, panniculitis, and dermatosis syndrome
Health Risk
RS886037887
Pathogenic; risk factor
Autoinflammation, panniculitis, and dermatosis syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS189738566 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammation, panniculitis, and dermatosis syndrome |
| RS750815369 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1553995945 | Health Risk | Likely pathogenic | — |
| RS2478185742 | Health Risk | Likely pathogenic | Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, Immunodeficiency 107 |
| RS1735786455 | Health Risk | Pathogenic | Autoinflammation, panniculitis, and dermatosis syndrome |
| RS2478170124 | Health Risk | Pathogenic | Autoinflammation, panniculitis, and dermatosis syndrome |
| RS2478212284 | Health Risk | Pathogenic | Autoinflammation, panniculitis, and dermatosis syndrome |
| RS2478223717 | Health Risk | Pathogenic | Autoinflammation, panniculitis, and dermatosis syndrome |
| RS2478223888 | Health Risk | Pathogenic | Autoinflammation, panniculitis, and dermatosis syndrome |
| RS886037885 | Health Risk | Pathogenic | Autoinflammation, panniculitis, and dermatosis syndrome |
| RS886037886 | Health Risk | Pathogenic; risk factor | Autoinflammation, panniculitis, and dermatosis syndrome |
| RS886037887 | Health Risk | Pathogenic; risk factor | Autoinflammation, panniculitis, and dermatosis syndrome |
| RS2478170948 | Health Risk | risk factor | Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, Immunodeficiency 107 |
| RS2478223249 | Health Risk | risk factor | Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, Immunodeficiency 107 |
| RS2478223549 | Health Risk | risk factor | Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, Immunodeficiency 107 |