Gene
IFNGR1
interferon gamma receptor 1
- HGNC 5439↗(opens in a new tab)
- Ensembl gene ENSG00000027697↗(opens in a new tab)
- NCBI Gene 3459↗(opens in a new tab)
Summary
- Cytogenetic location
- 6q23.3
- Coordinates
- Chromosome 6: 137,197,485–137,219,385 (GRCh38)
- Exons
- 7 exons across 21.9 kb
- Protein
- 489 amino acids
- Also known as
- CD119
- Previous symbols
- IFNGR
- MANE Select transcript
- ENST00000367739.9NM_000416.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Mendelian Susceptibility to Mycobacterial Disease (MSMD)
- Mendelian susceptibility to mycobacterial disease
Inherited defects in the IL-12/interferon-gamma pathway, caused by genes such as IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, ISG15 and RORC.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Affected people and at-risk relatives should avoid BCG and other live vaccines, infections need prolonged treatment, and some forms respond to interferon-gamma.
How IFNGR1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.1 kb of the gene's 21.9 kb; 1,470 of those bases code for the protein.
How a genome test reads IFNGR1
10
positions in IFNGR1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 21.9 kb of IFNGR1, introns included, not only the 2.1 kb of exons.
Genes linked to the same conditions
- IL12Binterleukin 12BShares 1 condition
- IL12RB1interleukin 12 receptor subunit beta 1Shares 1 condition
- IL23Rinterleukin 23 receptorShares 1 condition
- IRF8interferon regulatory factor 8Shares 1 condition
- ISG15ISG15 ubiquitin like modifierShares 1 condition
- RORCRAR related orphan receptor CShares 1 condition
- STAT1signal transducer and activator of transcription 1Shares 1 condition
Traits linked to IFNGR1
The Human Phenotype Ontology lists these as features of the rare conditions IFNGR1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). IFNGR1 gene: interferon gamma receptor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ifngr1
Dante Labs. IFNGR1 gene: interferon gamma receptor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ifngr1
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