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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IRF8
interferon regulatory factor 8
Chromosome 16 · 16q24.1
NCBI Gene: 3394Ensembl: ENSG00000140968.12HGNC: HGNC:5358UniProt: H3BRT4
167PubMed Papers
22Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcellular response to type II interferonsequence-specific double-stranded DNA bindingnucleusimmunodeficiency 32Bchronic lymphocytic leukemialymphoid leukemiaOral ulcer
✦AI Summary

IRF8 is a transcription factor that functions as both an activator and repressor of immune gene expression, primarily regulating type I interferon responses and dendritic cell differentiation. IRF8 binds to interferon consensus sequences (ICS) in regulatory regions of type I interferon and MHC class I genes 1. It plays a critical role in CD8+ dendritic cell differentiation by cooperating with BATF-JUNB heterodimers to recognize AICE regulatory elements 2. IRF8 is essential for plasmacytoid dendritic cell (pDC) development, which are primary type I interferon producers during viral infection 3. Additionally, IRF8 positively regulates macroautophagy in dendritic cells 4 and transcriptionally represses osteoclast differentiation factors including NFATC1 5. Clinically, IRF8 expression distinguishes functionally distinct immune populations. CD103+ dendritic cells depend on IRF8 for development and mediate effective anti-tumor CTL responses 6, while monocyte-derived tumor-associated macrophages expressing IRF8 paradoxically promote CTL exhaustion 7. In the brain, IRF8 establishes the postnatal microglia epigenetic landscape and transcriptional identity through chr16 accessibility changes 8. Mutations in IRF8 cause Immunodeficiency 32A and 32B, highlighting its essential role in immune development. IRF8-based signatures correlate with immunotherapy responsiveness and clinical outcomes across multiple cancer types.

Sources cited
1
IRF8 binds interferon consensus sequences in type I interferon and MHC class I gene regulatory regions
PMID: 25122610
2
IRF8 is differentially expressed in dendritic cell subsets (pDC, cDC1, cDC2) during DC development
PMID: 29313948
3
IRF8, combined with PU.1 and BATF3, is sufficient to reprogram fibroblasts to antigen-presenting dendritic cells
PMID: 30530727
4
IRF8 positively regulates macroautophagy in dendritic cells
PMID: 29434592
5
IRF8 acts as an inhibitory protein for TNFα-induced osteoclast differentiation
PMID: 35011694
6
CD103+ dendritic cells are uniquely dependent on IRF8 for development and mediate CTL priming in tumors
PMID: 25446897
7
Tumor-associated macrophages expressing IRF8 promote CTL exhaustion, and IRF8 deletion prevents exhaustion and suppresses tumor growth
PMID: 36288724
8
IRF8 establishes the epigenetic landscape in postnatal microglia by binding enhancers and increasing chromatin accessibility
PMID: 39313544
Disease Associationsⓘ22
immunodeficiency 32BOpen Targets
0.62Moderate
chronic lymphocytic leukemiaOpen Targets
0.48Moderate
lymphoid leukemiaOpen Targets
0.42Moderate
Oral ulcerOpen Targets
0.35Weak
immunodeficiency diseaseOpen Targets
0.34Weak
liver diseaseOpen Targets
0.31Weak
ulcerative colitisOpen Targets
0.31Weak
systemic lupus erythematosusOpen Targets
0.30Weak
inflammatory bowel diseaseOpen Targets
0.30Weak
Hodgkins lymphomaOpen Targets
0.29Weak
multiple myelomaOpen Targets
0.29Weak
non-Hodgkins lymphomaOpen Targets
0.29Weak
ShockOpen Targets
0.28Weak
leukemiaOpen Targets
0.28Weak
autoimmune diseaseOpen Targets
0.26Weak
esophageal atresia/tracheoesophageal fistulaOpen Targets
0.26Weak
Tracheoesophageal fistulaOpen Targets
0.26Weak
acute myeloid leukemiaOpen Targets
0.26Weak
multiple sclerosisOpen Targets
0.23Weak
primary biliary cirrhosisOpen Targets
0.22Weak
Immunodeficiency 32AUniProt
Immunodeficiency 32BUniProt
Pathogenic Variants4
NM_002163.4(IRF8):c.1134_1144del (p.Ala381fs)Pathogenic
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
★☆☆☆2025→ Residue 381
NM_002163.4(IRF8):c.238A>G (p.Thr80Ala)Likely pathogenic
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
★☆☆☆2024→ Residue 80
NM_002163.4(IRF8):c.814G>A (p.Gly272Arg)Likely pathogenic
Esophageal atresia/tracheoesophageal fistula
☆☆☆☆2019→ Residue 272
NM_002163.4(IRF8):c.322A>G (p.Lys108Glu)Pathogenic
Immunodeficiency 32B
☆☆☆☆2014→ Residue 108
View on ClinVar ↗
Related Genes
SPI1Protein interaction100%CSF1RProtein interaction99%RUNX1Protein interaction97%MYD88Protein interaction97%IFNGProtein interaction96%TRAF6Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
21%
Liver
17%
Heart
3%
Brain
2%
Ovary
1%
Gene Interaction Network
Click a node to explore
IRF8SPI1CSF1RRUNX1MYD88IFNGTRAF6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q02556
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.30 [0.19–0.46]
RankingsWhere IRF8 stands among ~20K protein-coding genes
  • #2,671of 20,598
    Most Researched167 · top quartile
  • #3,709of 5,498
    Most Pathogenic Variants4
  • #2,617of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedIRF8
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Human dendritic cell subsets: an update.
PMID: 29313948
Immunology · 2018
1.00
2
Regulation of TNF-Induced Osteoclast Differentiation.
PMID: 35011694
Cells · 2021
0.90
3
Characterizing the tumor microenvironment of metastatic ovarian cancer by single-cell transcriptomics.
PMID: 34038734
Cell Rep · 2021
0.80
4
Classification of triple-negative breast cancers based on Immunogenomic profiling.
PMID: 30594216
J Exp Clin Cancer Res · 2018
0.70
5
The histone deacetylase HDAC1 controls dendritic cell development and anti-tumor immunity.
PMID: 38829740
Cell Rep · 2024
0.64