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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IFNAR1
interferon alpha and beta receptor subunit 1
Chromosome 21 · 21q22.11
NCBI Gene: 3454Ensembl: ENSG00000142166.15HGNC: HGNC:5432UniProt: A0A8V8TQK8
209PubMed Papers
21Diseases
12Drugs
23Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cellular response to interferon-betatype I interferon-mediated signaling pathwayplasma membraneJAK pathway signal transduction adaptor activityimmunodeficiency 106, susceptibility to viral infectionschronic hepatitis B virus infectionneoplasmchronic hepatitis C virus infection
✦AI Summary

IFNAR1 is a cell surface receptor subunit that forms a heterodimeric complex with IFNAR2 to mediate type I interferon (IFN-α, IFN-β, IFN-ε, IFN-ω, IFN-κ) signaling 1. Upon type I interferon binding, IFNAR1 and IFNAR2 are brought into proximity, allowing their associated kinases TYK2 (IFNAR1-bound) and JAK1 (IFNAR2-bound) to cross-phosphorylate and activate the JAK-STAT pathway 2. The activated kinases phosphorylate tyrosine residues on both receptor subunits and STAT transcription factors, enabling STAT nuclear translocation and expression of interferon-regulated genes that establish antiviral immunity 2. IFNAR1 can also function independently of IFNAR2 through non-JAK-STAT mechanisms. IFNAR1 deficiency has significant clinical consequences. Complete loss causes severe susceptibility to viral infections, particularly herpes simplex encephalitis in childhood 3. Dominant-negative IFNAR1 variants impair responses to IFN-α and IFN-ω while sparing IFN-β responses, increasing viral disease susceptibility 4. IFNAR1 is also implicated in non-infectious diseases; the BGN-TLR3-IFNAR1 axis promotes calcific aortic valve disease through type I interferon-driven osteoblast differentiation 5. Therapeutically, IFNAR1 blockade with anifrolumab successfully treats type-I interferonopathies (SAVI, CANDLE) by normalizing pathologic interferon signatures 6. Viruses including SARS-CoV-2 and enterovirus 71 antagonize immunity by triggering IFNAR1 degradation via secreted LRPAP1 7.

Sources cited
1
IFNAR1 is a cell surface receptor subunit that forms a heterodimeric complex with IFNAR2 to mediate type I interferon (IFN-α, IFN-β, IFN-ε, IFN-ω, IFN-κ) signaling .
PMID: 33281831
2
Upon type I interferon binding, IFNAR1 and IFNAR2 are brought into proximity, allowing their associated kinases TYK2 (IFNAR1-bound) and JAK1 (IFNAR2-bound) to cross-phosphorylate and activate the JAK-STAT pathway .
PMID: 34813358
3
Complete loss causes severe susceptibility to viral infections, particularly herpes simplex encephalitis in childhood .
PMID: 39567785
4
Dominant-negative IFNAR1 variants impair responses to IFN-α and IFN-ω while sparing IFN-β responses, increasing viral disease susceptibility .
PMID: 39680367
5
IFNAR1 is also implicated in non-infectious diseases; the BGN-TLR3-IFNAR1 axis promotes calcific aortic valve disease through type I interferon-driven osteoblast differentiation .
PMID: 37013819
6
Therapeutically, IFNAR1 blockade with anifrolumab successfully treats type-I interferonopathies (SAVI, CANDLE) by normalizing pathologic interferon signatures .
PMID: 39441221
7
Viruses including SARS-CoV-2 and enterovirus 71 antagonize immunity by triggering IFNAR1 degradation via secreted LRPAP1 .
PMID: 37743411
Disease Associationsⓘ21
immunodeficiency 106, susceptibility to viral infectionsOpen Targets
0.67Moderate
chronic hepatitis B virus infectionOpen Targets
0.61Moderate
neoplasmOpen Targets
0.61Moderate
chronic hepatitis C virus infectionOpen Targets
0.61Moderate
multiple sclerosisOpen Targets
0.61Moderate
melanomaOpen Targets
0.60Moderate
hepatitis C virus infectionOpen Targets
0.60Moderate
hepatitis B virus infectionOpen Targets
0.58Moderate
systemic lupus erythematosusOpen Targets
0.58Moderate
polycythemia veraOpen Targets
0.56Moderate
HIV infectionOpen Targets
0.52Moderate
hairy cell leukemiaOpen Targets
0.51Moderate
essential thrombocythemiaOpen Targets
0.49Moderate
multiple myelomaOpen Targets
0.49Moderate
follicular lymphomaOpen Targets
0.46Moderate
relapsing-remitting multiple sclerosisOpen Targets
0.42Moderate
COVID-19Open Targets
0.40Moderate
cirrhosis of liverOpen Targets
0.40Moderate
chronic myelogenous leukemiaOpen Targets
0.39Weak
carcinoid tumorOpen Targets
0.39Weak
Immunodeficiency 106, susceptibility to viral infectionsUniProt
Pathogenic Variants23
NM_000629.3(IFNAR1):c.377-2A>GLikely pathogenic
not provided|Immunodeficiency 106, susceptibility to viral infections
★★☆☆2023
NM_000629.3(IFNAR1):c.750T>G (p.Tyr250Ter)Pathogenic
not provided|Immunodeficiency 106, susceptibility to viral infections
★★☆☆2023→ Residue 250
NM_000629.3(IFNAR1):c.934G>T (p.Gly312Ter)Pathogenic
not provided
★☆☆☆2026→ Residue 312
NM_000629.3(IFNAR1):c.27del (p.Thr10fs)Pathogenic
not provided
★☆☆☆2025→ Residue 10
NM_000629.3(IFNAR1):c.1130_1134del (p.Thr377fs)Pathogenic
not provided
★☆☆☆2025→ Residue 377
NM_000629.3(IFNAR1):c.1165del (p.Thr389fs)Pathogenic
not provided
★☆☆☆2025→ Residue 389
NM_000629.3(IFNAR1):c.506del (p.Ile169fs)Pathogenic
not provided
★☆☆☆2025→ Residue 169
NM_000629.3(IFNAR1):c.263_267del (p.Asn88fs)Pathogenic
not provided
★☆☆☆2025→ Residue 88
NM_000629.3(IFNAR1):c.200+2delLikely pathogenic
not provided
★☆☆☆2025
NM_000629.3(IFNAR1):c.1294+1G>ALikely pathogenic
not provided
★☆☆☆2025
NM_000629.3(IFNAR1):c.360del (p.Phe120fs)Pathogenic
not provided
★☆☆☆2025→ Residue 120
NM_000629.3(IFNAR1):c.789-2A>GLikely pathogenic
not provided
★☆☆☆2024
NM_000629.3(IFNAR1):c.1143+1G>ALikely pathogenic
not provided
★☆☆☆2024
NM_000629.3(IFNAR1):c.531+2T>GLikely pathogenic
not provided
★☆☆☆2024
NM_000629.3(IFNAR1):c.100C>T (p.Gln34Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 34
NM_000629.3(IFNAR1):c.1356del (p.Phe452fs)Likely pathogenic
Immunodeficiency 106, susceptibility to viral infections
★☆☆☆2023→ Residue 452
NM_000629.3(IFNAR1):c.227dup (p.Leu76fs)Pathogenic
not provided
★☆☆☆2023→ Residue 76
NM_000629.3(IFNAR1):c.291T>A (p.Tyr97Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 97
NM_000629.3(IFNAR1):c.988+2_988+6delLikely pathogenic
not provided
★☆☆☆2022
NM_000629.3(IFNAR1):c.252dup (p.Thr85fs)Pathogenic
not provided
★☆☆☆2022→ Residue 85
View on ClinVar ↗
Drug Targets12
ALBINTERFERON ALFA-2BApproved
Interferon alpha/beta receptor agonist
neoplasm
ANIFROLUMABApproved
Interferon-alpha/beta receptor alpha chain antagonist
systemic lupus erythematosus
INTERFERON ALFA-2AApproved
Interferon alpha/beta receptor agonist
INTERFERON ALFA-2BApproved
Interferon alpha/beta receptor agonist
hairy cell leukemia
INTERFERON ALFACON-1Approved
Interferon alpha/beta receptor agonist
hepatitis C virus infection
INTERFERON ALFA-N3Approved
Interferon alpha/beta receptor agonist
HIV infection
INTERFERON BETA-1AApproved
Interferon alpha/beta receptor agonist
multiple sclerosis
INTERFERON BETA-1BApproved
Interferon alpha/beta receptor agonist
multiple sclerosis
PEGINTERFERON ALFA-2AApproved
Interferon alpha/beta receptor agonist
PEGINTERFERON ALFA-2BApproved
Interferon alpha/beta receptor agonist
chronic hepatitis C virus infection
PEGINTERFERON BETA-1AApproved
Interferon alpha/beta receptor agonist
multiple sclerosis
ROPEGINTERFERON ALFA-2BApproved
Interferon alpha/beta receptor positive modulator
polycythemia vera
Related Genes
ISG15Protein interaction100%IL4Protein interaction100%IL6Protein interaction100%CSF2Protein interaction100%IFNEProtein interaction100%IFNW1Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
82%
Heart
63%
Lung
58%
Ovary
38%
Bone Marrow
26%
Gene Interaction Network
Click a node to explore
IFNAR1ISG15IL4IL6CSF2IFNEIFNW1
PROTEIN STRUCTURE
Preparing viewer…
PDB3S98 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.73LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.07 [0.65–1.73]
RankingsWhere IFNAR1 stands among ~20K protein-coding genes
  • #1,997of 20,598
    Most Researched209 · top 10%
  • #134of 1,025
    FDA-Approved Drug Targets12 · top quartile
  • #2,037of 5,498
    Most Pathogenic Variants23
  • #16,253of 17,882
    Most Constrained (LOEUF)1.73
Genes detectedIFNAR1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
The Role of Structure in the Biology of Interferon Signaling.
PMID: 33281831
Front Immunol · 2020
1.00
2
IFNAR1 and IFNAR2 play distinct roles in initiating type I interferon-induced JAK-STAT signaling and activating STATs.
PMID: 34813358
Sci Signal · 2021
0.90
3
Genetic defects of brain immunity in childhood herpes simplex encephalitis.
PMID: 39567785
Nature · 2024
0.80
4
Type I interferon signaling induces melanoma cell-intrinsic PD-1 and its inhibition antagonizes immune checkpoint blockade.
PMID: 39187481
Nat Commun · 2024
0.72
5
Normalized Interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in Patients with Type I Interferonopathies.
PMID: 39441221
J Clin Immunol · 2024
0.70