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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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IFNGR1
interferon gamma receptor 1
Chromosome 6 Β· 6q23.3
NCBI Gene: 3459Ensembl: ENSG00000027697.16HGNC: HGNC:5439UniProt: A0A0S2Z3Y2
236PubMed Papers
22Diseases
1Drugs
36Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
type II interferon-mediated signaling pathwaytype III interferon-mediated signaling pathwayprotein bindingmembranedisseminated atypical mycobacterial infectionchronic granulomatous diseasemycobacterial infectious diseaseOral ulcer
✦AI Summary

IFNGR1 (interferon gamma receptor 1) is the ligand-binding subunit of the type-II interferon receptor, which functions as a critical component of antimicrobial, antiviral, and antitumor immune responses 1. The receptor forms a functional heterodimeric complex with IFNGR2 upon interferon-gamma binding 1. Upon ligand engagement, IFNGR1's intracellular domain recruits and activates JAK1 and JAK2 kinases, which phosphorylate IFNGR1 to create docking sites for STAT1, leading to STAT1 phosphorylation, dimerization, nuclear translocation, and transcriptional activation of target genes 2. IFNGR1 is post-translationally regulated through ubiquitination-dependent proteasomal degradation and palmitoylation-dependent lysosomal sorting, mechanisms that fine-tune immune responses 23. Clinically, IFNGR1 dysfunction is associated with Immunodeficiency 27A/B, while germline loss-of-function causes severe susceptibility to mycobacterial infections. IFNGR1 expression stability is therapeutically targetable: enhancing IFNGR1 stability through N-glycosylation augmentation or palmitoylation inhibition restores interferon-gamma sensitivity in colorectal cancer cells and improves immunotherapy efficacy 43. Additionally, IFNGR1 signaling is required for CAR T cell-mediated killing of solid tumors but not hematologic malignancies, and genetic polymorphisms in IFNGR1 associate with tuberculosis susceptibility in population-specific manners 56.

Sources cited
1
IFNGR1 is a subunit of the type-II interferon receptor complex that forms a functional heterodimer with IFNGR2
PMID: 33281831
2
IFNGR1 recruits JAK1/JAK2 kinases that phosphorylate STAT1; RNF149 ubiquitin ligase degrades IFNGR1 proteasomally to restrict macrophage inflammation
PMID: 38989590
3
IFNGR1 undergoes S-palmitoylation-dependent lysosomal sorting and degradation via AP3D1; optineurin prevents this degradation to maintain IFNΞ³ signaling
PMID: 33627378
4
N-glycosylation changes regulate IFNGR1 protein stability; MGAT3 expression and all-trans retinoic acid restore IFNGR1 stability and IFN-Ξ³ sensitivity in colorectal cancer
PMID: 36402190
5
IFNGR1 signaling is required for CAR T cell cytotoxicity against solid tumors but not hematologic malignancies; loss of IFNGR1 reduces CAR T cell adhesion to glioblastoma cells
PMID: 35418687
6
IFNGR1 rs2234711 polymorphism associates with increased TB susceptibility in Africans but decreased susceptibility in Asians
PMID: 36148347
7
IFNGR1 signaling is involved in microglial activation within proliferative diabetic retinopathy microenvironment
PMID: 35061025
8
IFNGR1 mediates IFN-Ξ³-induced dysplastic cell formation in viral pneumonia via FAK/YAP pathway; IFNGR1 inactivation reduces dysplastic cell formation and lung fibrosis
PMID: 39352385
Disease Associationsβ“˜22
disseminated atypical mycobacterial infectionOpen Targets
0.54Moderate
chronic granulomatous diseaseOpen Targets
0.54Moderate
mycobacterial infectious diseaseOpen Targets
0.46Moderate
Oral ulcerOpen Targets
0.45Moderate
idiopathic pulmonary fibrosisOpen Targets
0.44Moderate
osteopetrosisOpen Targets
0.44Moderate
neoplasmOpen Targets
0.42Moderate
cystic fibrosisOpen Targets
0.39Weak
Friedreich ataxiaOpen Targets
0.37Weak
Hepatic fibrosisOpen Targets
0.37Weak
inflammationOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
immunodeficiency diseaseOpen Targets
0.34Weak
obesityOpen Targets
0.29Weak
melanomaOpen Targets
0.28Weak
CandidemiaOpen Targets
0.28Weak
chronic prostatitisOpen Targets
0.26Weak
ventilator-associated pneumoniaOpen Targets
0.26Weak
overnutritionOpen Targets
0.25Weak
nephrolithiasisOpen Targets
0.24Weak
Immunodeficiency 27AUniProt
Immunodeficiency 27BUniProt
Pathogenic Variants36
NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr)Pathogenic
Immunodeficiency 27A|Mycobacterium tuberculosis, susceptibility to|not provided|Disseminated atypical mycobacterial infection
β˜…β˜…β˜†β˜†2025β†’ Residue 87
NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs)Pathogenic
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency|not provided|IFN-gamma receptor 1 deficiency|Disseminated atypical mycobacterial infection|Helicobacter pylori infection, susceptibility to;Immunodeficiency 27A;Mycobacterium tuberculosis, susceptibility to;Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency;Hepatitis B virus, susceptibility to
β˜…β˜…β˜†β˜†2025β†’ Residue 274
NM_000416.3(IFNGR1):c.523del (p.Tyr175fs)Pathogenic
Immunodeficiency 27A|Inherited Immunodeficiency Diseases|not provided|Disseminated atypical mycobacterial infection
β˜…β˜…β˜†β˜†2024β†’ Residue 175
NM_000416.3(IFNGR1):c.201-1G>TLikely pathogenic
Interferon gamma receptor deficiency|Disseminated atypical mycobacterial infection
β˜…β˜…β˜†β˜†2021
NM_000416.3(IFNGR1):c.373+2T>CPathogenic
Disseminated atypical mycobacterial infection
β˜…β˜†β˜†β˜†2025
NM_000416.3(IFNGR1):c.811A>T (p.Lys271Ter)Pathogenic
Disseminated atypical mycobacterial infection
β˜…β˜†β˜†β˜†2025β†’ Residue 271
NM_000416.3(IFNGR1):c.588_592del (p.Glu197fs)Pathogenic
Disseminated atypical mycobacterial infection
β˜…β˜†β˜†β˜†2025β†’ Residue 197
NM_000416.3(IFNGR1):c.55dup (p.Met19fs)Likely pathogenic
Immunodeficiency 27A
β˜…β˜†β˜†β˜†2025β†’ Residue 19
NM_000416.3(IFNGR1):c.573_574dup (p.Glu192fs)Pathogenic
Immunodeficiency 27A
β˜…β˜†β˜†β˜†2025β†’ Residue 192
NM_000416.3(IFNGR1):c.781del (p.Ser262fs)Pathogenic
Disseminated atypical mycobacterial infection
β˜…β˜†β˜†β˜†2024β†’ Residue 262
NM_000416.3(IFNGR1):c.733+2T>CLikely pathogenic
Disseminated atypical mycobacterial infection
β˜…β˜†β˜†β˜†2024
NM_000416.3(IFNGR1):c.218G>A (p.Trp73Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 73
NM_000416.3(IFNGR1):c.816_817dup (p.Ile273fs)Likely pathogenic
Disseminated atypical mycobacterial infection
β˜…β˜†β˜†β˜†2023β†’ Residue 273
NM_000416.3(IFNGR1):c.672G>A (p.Trp224Ter)Pathogenic
Disseminated atypical mycobacterial infection
β˜…β˜†β˜†β˜†2023β†’ Residue 224
NM_000416.3(IFNGR1):c.201-1G>CLikely pathogenic
Disseminated atypical mycobacterial infection
β˜…β˜†β˜†β˜†2023
NM_000416.3(IFNGR1):c.373+1G>TPathogenic
not provided|Disseminated atypical mycobacterial infection
β˜…β˜†β˜†β˜†2022
NM_000416.3(IFNGR1):c.805del (p.Tyr269fs)Pathogenic
Disseminated atypical mycobacterial infection
β˜…β˜†β˜†β˜†2022β†’ Residue 269
NM_000416.3(IFNGR1):c.643_644del (p.Val215fs)Pathogenic
Disseminated atypical mycobacterial infection
β˜…β˜†β˜†β˜†2022β†’ Residue 215
NM_000416.3(IFNGR1):c.585T>A (p.Cys195Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 195
NM_000416.3(IFNGR1):c.547-42A>TLikely pathogenic
Immunodeficiency 27A
β˜…β˜†β˜†β˜†2019
View on ClinVar β†—
Drug Targets1
INTERFERON GAMMA-1BApproved
Interferon gamma receptor agonist
chronic granulomatous disease
Related Genes
PIK3R3Protein interaction100%PIK3R1Protein interaction100%PIK3CBProtein interaction100%PIK3CDProtein interaction100%PIK3CAProtein interaction100%IL4Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Heart
62%
Bone Marrow
47%
Brain
33%
Liver
29%
Ovary
22%
Gene Interaction Network
Click a node to explore
IFNGR1PIK3R3PIK3R1PIK3CBPIK3CDPIK3CAIL4
PROTEIN STRUCTURE
Preparing viewer…
PDB1FYH Β· 2.04 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.88LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.41–0.88]
RankingsWhere IFNGR1 stands among ~20K protein-coding genes
  • #1,670of 20,598
    Most Researched236 Β· top 10%
  • #839of 1,025
    FDA-Approved Drug Targets1
  • #1,640of 5,498
    Most Pathogenic Variants36
  • #7,832of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedIFNGR1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
The Role of Structure in the Biology of Interferon Signaling.
PMID: 33281831
Front Immunol Β· 2020
1.00
2
Single-Cell Transcriptomics Reveals Novel Role of Microglia in Fibrovascular Membrane of Proliferative Diabetic Retinopathy.
PMID: 35061025
Diabetes Β· 2022
0.90
3
Association between IFNGR1 gene polymorphisms and tuberculosis susceptibility: A meta-analysis.
PMID: 36148347
Front Public Health Β· 2022
0.80
4
RNF149 Destabilizes IFNGR1 in Macrophages to Favor Postinfarction Cardiac Repair.
PMID: 38989590
Circ Res Β· 2024
0.70
5
Loss of IFN-Ξ³ Pathway Genes in Tumor Cells as a Mechanism of Resistance to Anti-CTLA-4 Therapy.
PMID: 27667683
Cell Β· 2016
0.64