IFNG Chromosome 12
Interferon gamma
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What This Gene Does
This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Interferons
Locus Type
gene with protein product
Location
12q15
Ensembl
ENSG00000111537
Associated Conditions (12)
Hepatitis C virus infection
response to therapy of
Aplastic anemia
Immunodeficiency 69
Acquired immunodeficiency syndrome
rapid progression to
susceptibility to
Tsc2 angiomyolipomas
renal
modifier of
Mycobacterium tuberculosis
protection against
Key Variants
RS2069707
drug response
Hepatitis C virus infection, response to therapy of, Hepatitis C virus infection
Drug Response
RS181407537
Conflicting classifications of pathogenicity
Aplastic anemia, Aplastic anemia
Health Risk
RS1882625482
Pathogenic
Immunodeficiency 69, Immunodeficiency 69
Health Risk
RS2069709
Pathogenic
Acquired immunodeficiency syndrome, rapid progression to, Acquired immunodeficiency syndrome
Health Risk
RS34079299
risk factor
Aplastic anemia, susceptibility to, Tsc2 angiomyolipomas
Health Risk
RS2120749035
protective
Mycobacterium tuberculosis, protection against, Mycobacterium tuberculosis
Protective
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2069707 | Drug Response | drug response | Hepatitis C virus infection, response to therapy of, Hepatitis C virus infection |
| RS181407537 | Health Risk | Conflicting classifications of pathogenicity | Aplastic anemia, Aplastic anemia |
| RS1882625482 | Health Risk | Pathogenic | Immunodeficiency 69, Immunodeficiency 69 |
| RS2069709 | Health Risk | Pathogenic | Acquired immunodeficiency syndrome, rapid progression to, Acquired immunodeficiency syndrome |
| RS34079299 | Health Risk | risk factor | Aplastic anemia, susceptibility to, Tsc2 angiomyolipomas |
| RS2120749035 | Protective | protective | Mycobacterium tuberculosis, protection against, Mycobacterium tuberculosis |