SOCS1 Chromosome 16
Suppressor of cytokine signaling 1
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What This Gene Does
This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"SH2 domain containing|Suppressors of cytokine signaling"
Locus Type
gene with protein product
Location
16p13.13
Ensembl
ENSG00000185338
Associated Conditions (12)
Autoinflammatory syndrome with immunodeficiency
AUTOINFLAMMATORY SYNDROME
FAMILIAL
WITHOUT IMMUNODEFICIENCY
Autoimmune thrombocytopenic purpura
Autoimmune hemolytic anemia
Autoimmune thrombocytopenia
Malignant lymphoma
large B-cell
diffuse
Neoplasm
Systemic lupus erythematosus
Key Variants
RS2069579242
Likely pathogenic
Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome with immunodeficiency
Health Risk
RS2141124327
Likely pathogenic
Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome with immunodeficiency
Health Risk
RS2141125120
Likely pathogenic
Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome with immunodeficiency
Health Risk
RS2141125364
Likely pathogenic
Health Risk
RS1244284678
Pathogenic
AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY
Health Risk
RS1470306246
Pathogenic
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoinflammatory syndrome with immunodeficiency
Health Risk
RS2069587477
Pathogenic
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoinflammatory syndrome with immunodeficiency
Health Risk
RS2141124542
Pathogenic
Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome with immunodeficiency
Health Risk
RS906125295
Pathogenic
Malignant lymphoma, large B-cell, diffuse
Health Risk
RS2069578995
Pathogenic/Likely pathogenic
Systemic lupus erythematosus, AUTOINFLAMMATORY SYNDROME, FAMILIAL
Health Risk
RS2069586831
Pathogenic/Likely pathogenic
Systemic lupus erythematosus, AUTOINFLAMMATORY SYNDROME, FAMILIAL
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2069579242 | Health Risk | Likely pathogenic | Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome with immunodeficiency |
| RS2141124327 | Health Risk | Likely pathogenic | Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome with immunodeficiency |
| RS2141125120 | Health Risk | Likely pathogenic | Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome with immunodeficiency |
| RS2141125364 | Health Risk | Likely pathogenic | — |
| RS1244284678 | Health Risk | Pathogenic | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY |
| RS1470306246 | Health Risk | Pathogenic | Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoinflammatory syndrome with immunodeficiency |
| RS2069587477 | Health Risk | Pathogenic | Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoinflammatory syndrome with immunodeficiency |
| RS2141124542 | Health Risk | Pathogenic | Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome with immunodeficiency |
| RS906125295 | Health Risk | Pathogenic | Malignant lymphoma, large B-cell, diffuse |
| RS2069578995 | Health Risk | Pathogenic/Likely pathogenic | Systemic lupus erythematosus, AUTOINFLAMMATORY SYNDROME, FAMILIAL |
| RS2069586831 | Health Risk | Pathogenic/Likely pathogenic | Systemic lupus erythematosus, AUTOINFLAMMATORY SYNDROME, FAMILIAL |