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Gene

IRF8

interferon regulatory factor 8

Summary

Cytogenetic location
16q24.1
Coordinates
Chromosome 16: 85,899,162–85,922,606 (GRCh38)
Exons
9 exons across 23.4 kb
Protein
426 amino acids
Inheritance
Autosomal recessive
Also known as
IRF-8, ICSBP
Previous symbols
ICSBP1
MANE Select transcript
ENST00000268638.10NM_002163.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Mendelian Susceptibility to Mycobacterial Disease (MSMD)

    • Autosomal recessive IRF8 deficiencyAutosomal recessive

      Severe mycobacterial and other infections with absent monocytes and dendritic cells caused by changes in both copies of IRF8.

      • 2 GenCC submitters rate it definitive or strong
    • 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.

Broader groupings

  • Other Inborn Errors of Immunity

    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How IRF8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where IRF8 sits. IRF8 and 5 genes near it on chromosome 16, from 85,410,884 to 86,410,883.Chromosome 1616q24.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.385.6 Mb85.8 Mb86 Mb86.2 Mb86.4 MbGSE1: 85,169,525–85,676,204, forward strandGSE1GINS2: 85,673,164–85,690,073, reverse strandGINS2CLMB: 85,690,084–85,751,143, reverse strandCLMBEMC8: 85,771,758–85,800,193, reverse strandEMC8COX4I1: 85,798,633–85,810,195, forward strandCOX4I1IRF8: 85,899,162–85,922,606, forward strandIRF8Diagram of IRF8: 9 exons on the forward strand of chromosome 16Exon 3: 1 known disease-causing siteExon 1: 85,899,162–85,899,223, 62 basesExon 2: 85,903,015–85,903,189, 175 basesExon 3: 85,908,990–85,909,173, 184 basesExon 4: 85,911,570–85,911,658, 89 basesExon 5: 85,913,131–85,913,236, 106 basesExon 6: 85,914,473–85,914,520, 48 basesExon 7: 85,918,417–85,918,803, 387 basesExon 8: 85,920,109–85,920,224, 116 basesExon 9: 85,921,106–85,922,606, 1,501 bases1234567895′3′

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 2.7 kb of the gene's 23.4 kb; 1,281 of those bases code for the protein.

How a genome test reads IRF8

1

position in IRF8 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 23.4 kb of IRF8, introns included, not only the 2.7 kb of exons.

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

APA

Dante Labs. (n.d.). IRF8 gene: interferon regulatory factor 8. Retrieved 17 October 2026, from https://dantelabs.com/genes/irf8

Vancouver

Dante Labs. IRF8 gene: interferon regulatory factor 8 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/irf8

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