IFNGR2 (Interferon gamma receptor 2) variants and mutations

IFNGR2 (also known as Interferon gamma receptor 2) is a human protein-coding gene encoding an interferon gamma receptor 2 protein. It partners with IFNGR1 to transmit interferon-gamma signals into cells through JAK-STAT pathways. Biallelic loss-of-function variants impair macrophage activation and can cause severe susceptibility to poorly pathogenic mycobacteria and related intracellular organisms. This analysis covers 536 IFNGR2 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes immunodeficiency 28, Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 de, and chronic granulomatous disease. Example IFNGR2 variants include M1L, M1V, and R2*.

Variant analysis overview

Gene: IFNGR2
Protein: Interferon gamma receptor 2
UniProt accession: P38484
Organism: Homo sapiens
Variants analyzed: 536
Variant scope: all variants
Completed: 2026-08-19

Variant and mutation evidence

Variant composition: 380 unspecified-consequence records; 6 stop-gained variants; 89 missense variants; 28 synonymous variants; 20 frameshift variants; 7 in-frame deletions; 3 in-frame insertions; 2 splice-region variants; 1 substitution
Prediction scores: 503 variants have prediction scores (94% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: immunodeficiency 28, Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 de, chronic granulomatous disease, idiopathic pulmonary fibrosis, rheumatoid arthritis, Crohn disease, osteopetrosis, inflammatory bowel disease, neoplasm, cystic fibrosis, Friedreich ataxia, Hepatic fibrosis.

Protein structure and variant hotspots

Protein features: 1 transmembrane segments; 2 domains; 6 post-translational modification sites.
Structural context: 274 variants have structural context.
PTM context: 7 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable IFNGR2 variants

Examples include M1L, M1V, R2*, R2G, R2R, R2Q, R2L, P3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

IFNGR2 analysis run — IFNGR2 (536 variants) — completed 2026-08-19