IFNGR2 Chromosome 21
Interferon gamma receptor 2
Upload your DNA to see your personal genotypes for variants in IFNGR2.
What This Gene Does
This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Fibronectin type III domain containing|Interferon receptors"
Locus Type
gene with protein product
Location
21q22.11
Ensembl
ENSG00000159128
Associated Conditions (5)
Immunodeficiency 28
IFNGR2-related disorder
Inborn genetic diseases
Interferon gamma receptor deficiency
Susceptibility to severe COVID-19
Key Variants
RS1012938610
Conflicting classifications of pathogenicity
Immunodeficiency 28, IFNGR2-related disorder, Inborn genetic diseases
Health Risk
RS121913209
Conflicting classifications of pathogenicity
Immunodeficiency 28, Immunodeficiency 28
Health Risk
RS121913212
Conflicting classifications of pathogenicity
Immunodeficiency 28, IFNGR2-related disorder, Immunodeficiency 28
Health Risk
RS121913217
Conflicting classifications of pathogenicity
Immunodeficiency 28, Immunodeficiency 28
Health Risk
RS142997921
Conflicting classifications of pathogenicity
Immunodeficiency 28, Inborn genetic diseases, Immunodeficiency 28
Health Risk
RS193922682
Conflicting classifications of pathogenicity
Interferon gamma receptor deficiency, Immunodeficiency 28, Interferon gamma receptor deficiency
Health Risk
RS572786148
Conflicting classifications of pathogenicity
Immunodeficiency 28, Immunodeficiency 28
Health Risk
RS769963583
Conflicting classifications of pathogenicity
Immunodeficiency 28, Inborn genetic diseases, Immunodeficiency 28
Health Risk
RS772248868
Conflicting classifications of pathogenicity
Immunodeficiency 28, Inborn genetic diseases, Immunodeficiency 28
Health Risk
RS1316638883
Likely pathogenic
Immunodeficiency 28, Immunodeficiency 28, Immunodeficiency 28
Health Risk
RS2123370265
Likely pathogenic
Immunodeficiency 28, Immunodeficiency 28
Health Risk
RS2516962940
Likely risk allele
Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1012938610 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 28, IFNGR2-related disorder, Inborn genetic diseases |
| RS121913209 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 28, Immunodeficiency 28 |
| RS121913212 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 28, IFNGR2-related disorder, Immunodeficiency 28 |
| RS121913217 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 28, Immunodeficiency 28 |
| RS142997921 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 28, Inborn genetic diseases, Immunodeficiency 28 |
| RS193922682 | Health Risk | Conflicting classifications of pathogenicity | Interferon gamma receptor deficiency, Immunodeficiency 28, Interferon gamma receptor deficiency |
| RS572786148 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 28, Immunodeficiency 28 |
| RS769963583 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 28, Inborn genetic diseases, Immunodeficiency 28 |
| RS772248868 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 28, Inborn genetic diseases, Immunodeficiency 28 |
| RS1316638883 | Health Risk | Likely pathogenic | Immunodeficiency 28, Immunodeficiency 28, Immunodeficiency 28 |
| RS2123370265 | Health Risk | Likely pathogenic | Immunodeficiency 28, Immunodeficiency 28 |
| RS2516962940 | Health Risk | Likely risk allele | Susceptibility to severe COVID-19, Susceptibility to severe COVID-19 |
| RS1319389333 | Health Risk | Pathogenic | Immunodeficiency 28, Immunodeficiency 28 |
| RS2083655919 | Health Risk | Pathogenic | Immunodeficiency 28, Immunodeficiency 28 |
| RS2123368937 | Health Risk | Pathogenic | Immunodeficiency 28, Immunodeficiency 28 |
| RS398122890 | Health Risk | Pathogenic | Immunodeficiency 28, Immunodeficiency 28 |
| RS587776822 | Health Risk | Pathogenic | Immunodeficiency 28, Immunodeficiency 28 |
| RS587776823 | Health Risk | Pathogenic | Immunodeficiency 28, Immunodeficiency 28 |
| RS74315444 | Health Risk | Pathogenic | Immunodeficiency 28, Immunodeficiency 28 |