IFNAR2 Chromosome 21
Interferon alpha and beta receptor subunit 2
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What This Gene Does
The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family. Mutations in this gene are associated with Immunodeficiency 45. [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
Interferon receptors
Locus Type
gene with protein product
Location
21q22.11
Ensembl
ENSG00000159110
Associated Conditions (9)
Hepatitis B virus
susceptibility to
Immunodeficiency 45
IFNAR2-related disorder
Susceptibility to severe COVID-19
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Multisystem inflammatory syndrome in children
Mortality risk in patients with severe coronavirus disease (COVID-19)
Associated with severe COVID-19 disease
Key Variants
RS140533677
Conflicting classifications of pathogenicity
Hepatitis B virus, susceptibility to, Immunodeficiency 45
Health Risk
RS150825310
Conflicting classifications of pathogenicity
Immunodeficiency 45, Immunodeficiency 45
Health Risk
RS1987287426
Conflicting classifications of pathogenicity
Immunodeficiency 45, Immunodeficiency 45
Health Risk
RS780171388
Conflicting classifications of pathogenicity
IFNAR2-related disorder, IFNAR2-related disorder
Health Risk
RS1468003457
Likely pathogenic
Immunodeficiency 45, Immunodeficiency 45
Health Risk
RS2123478681
Likely pathogenic
Health Risk
RS903202071
Likely pathogenic
Health Risk
RS774005366
Likely risk allele
Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
Health Risk
RS1164631131
Pathogenic
Health Risk
RS1205259499
Pathogenic
Health Risk
RS1312285586
Pathogenic
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Immunodeficiency 45, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Health Risk
RS2516718524
Pathogenic
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140533677 | Health Risk | Conflicting classifications of pathogenicity | Hepatitis B virus, susceptibility to, Immunodeficiency 45 |
| RS150825310 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 45, Immunodeficiency 45 |
| RS1987287426 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 45, Immunodeficiency 45 |
| RS780171388 | Health Risk | Conflicting classifications of pathogenicity | IFNAR2-related disorder, IFNAR2-related disorder |
| RS1468003457 | Health Risk | Likely pathogenic | Immunodeficiency 45, Immunodeficiency 45 |
| RS2123478681 | Health Risk | Likely pathogenic | — |
| RS903202071 | Health Risk | Likely pathogenic | — |
| RS774005366 | Health Risk | Likely risk allele | Susceptibility to severe COVID-19, Susceptibility to severe COVID-19 |
| RS1164631131 | Health Risk | Pathogenic | — |
| RS1205259499 | Health Risk | Pathogenic | — |
| RS1312285586 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Immunodeficiency 45, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS2516718524 | Health Risk | Pathogenic | — |
| RS761669332 | Health Risk | Pathogenic | — |
| RS775739391 | Health Risk | Pathogenic | Immunodeficiency 45, Immunodeficiency 45 |
| RS778657924 | Health Risk | Pathogenic | — |
| RS1310889473 | Health Risk | Pathogenic/Likely pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Immunodeficiency 45, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS1226146327 | Health Risk | risk factor | Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children |
| RS3153 | Health Risk | Uncertain significance; association | Mortality risk in patients with severe coronavirus disease (COVID-19), Associated with severe COVID-19 disease, Mortality risk in patients with severe coronavirus disease (COVID-19) |