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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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IRF2BP1
interferon regulatory factor 2 binding protein 1
Chromosome 19 · 19q13.32
NCBI Gene: 26145Ensembl: ENSG00000170604.5HGNC: HGNC:21728UniProt: Q8IU81
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of transcription by RNA polymerase IItranscription corepressor activityprotein bindingubiquitin protein ligase activitycholelithiasisosteoarthritis, handgallstonesmusculoskeletal system disease
✦AI Summary

IRF2BP1 (interferon regulatory factor 2 binding protein 1) is a nuclear transcriptional corepressor that functions through IRF2-dependent mechanisms independent of histone deacetylase activity. It possesses E3 ubiquitin ligase activity, promoting polyubiquitination of substrates including JDP2, and represses both ATF2-dependent and general RNA polymerase II-mediated transcription 1. Mechanistically, IRF2BP1 operates as a molecular switch in EGFR signaling through transient deSUMOylation, regulating immediate early genes like DUSP1 and ATF3 2. In cancer immunity, IRF2BP1 functions downstream of Cdk5 in the Irf2bp1-Stat1-importin α-Nlrc5 pathway to suppress MHC-I expression, enabling breast cancer brain metastases to evade T cell recognition 3. Clinical significance includes disease associations recently identified through genomic studies. IRF2BP1 variants contribute to neurodevelopmental disorders and microcephaly 4, with protein-truncating variants causing severe immunodeficiency in affected individuals 5. Additionally, IRF2BP1 genetic variants (rs60158447) show significant association with post-ERCP pancreatitis susceptibility 6. IRF2BP1 has also been identified as a fusion partner with RARA in variant acute promyelocytic leukemia 7, and represents a potential therapeutic target for inflammatory bowel disease management 8.

Sources cited
1
IRF2BP1 functions in the Cdk5-mediated pathway suppressing MHC-I expression to enable immune evasion of brain metastases
PMID: 39304713
2
IRF2BP1 protein-truncating variants cause severe immunodeficiency in neurodevelopmental disorder patients
PMID: 38091987
3
IRF2BP1 is an IRF2-dependent transcriptional repressor belonging to the IRF2BP family
PMID: 31022319
4
IRF2BP1 is identified as a novel candidate gene for neurodevelopmental disorders and microcephaly
PMID: 37501076
5
IRF2BP1 fuses with RARA in variant acute promyelocytic leukemia
PMID: 38410879
6
IRF2BP1 is a potential therapeutic target for inflammatory bowel disease
PMID: 30329049
7
IRF2BP1 rs60158447 genetic variant is significantly associated with post-ERCP pancreatitis susceptibility
PMID: 37867141
8
IRF2BP1 undergoes transient deSUMOylation as a molecular switch in EGFR signaling, regulating immediate early genes like DUSP1
PMID: 33480129
Disease Associationsⓘ20
cholelithiasisOpen Targets
0.21Weak
osteoarthritis, handOpen Targets
0.21Weak
gallstonesOpen Targets
0.21Weak
musculoskeletal system diseaseOpen Targets
0.18Weak
vertebral joint diseaseOpen Targets
0.15Weak
CholecystitisOpen Targets
0.13Weak
vertebral column disorderOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.11Weak
Back painOpen Targets
0.08Suggestive
dementiaOpen Targets
0.08Suggestive
neurodegenerative diseaseOpen Targets
0.06Suggestive
spinal stenosisOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
radiculitisOpen Targets
0.04Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
acute promyelocytic leukemiaOpen Targets
0.01Suggestive
acute kidney injuryOpen Targets
0.01Suggestive
in situ carcinomaOpen Targets
0.01Suggestive
pancreatitisOpen Targets
0.01Suggestive
COVID-19Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MKRN3Shared pathway100%DZIP3Shared pathway100%UBOX5Shared pathway100%MKRN1Shared pathway100%RUSC1Shared pathway100%ZSWIM2Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Liver
98%
Brain
60%
Lung
44%
Heart
34%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
IRF2BP1MKRN3DZIP3UBOX5MKRN1RUSC1ZSWIM2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IU81
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.94Intolerant
Observed/Expected LoF0.31 [0.18–0.54]
RankingsWhere IRF2BP1 stands among ~20K protein-coding genes
  • #8,208of 20,598
    Most Researched55
  • #3,391of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedIRF2BP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Astrocyte-induced Cdk5 expedites breast cancer brain metastasis by suppressing MHC-I expression to evade immune recognition.
PMID: 39304713
Nat Cell Biol · 2024
1.00
2
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
PMID: 38091987
Am J Hum Genet · 2024
0.90
3
IRF2BP2: A new player in the regulation of cell homeostasis.
PMID: 31022319
J Leukoc Biol · 2019
0.80
4
Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
PMID: 37501076
BMC Genomics · 2023
0.70
5
Report of IRF2BP1 as a novel partner of RARA in variant acute promyelocytic leukemia.
PMID: 38410879
Am J Hematol · 2024
0.60