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GeneE
28 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CBFB
core-binding factor subunit beta
Chromosome 16 · 16q22.1
NCBI Gene: 865Ensembl: ENSG00000067955.16HGNC: HGNC:1539UniProt: Q13951
193PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneOncogene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneprotein polyubiquitinationregulation of transcription by RNA polymerase IIprotein bindingcleidocranial dysplasia 1breast adenocarcinomalymphoid neoplasmbreast ductal adenocarcinoma
✦AI Summary

CBFB (core-binding factor subunit beta) is a transcriptional coactivator that forms a nuclear complex with RUNX proteins to regulate gene expression by RNA polymerase II 1. As an obligatory RUNT cofactor, CBFB controls T cell lineage determination and naive T cell homeostasis through interaction with lineage-determining transcription factors ThPOK and RUNX3 2. CBFB functions primarily through its association with core-binding factor complexes to activate transcription at target genes. During HIV-1 infection, CBFB is hijacked by the viral Vif protein and incorporated into cullin-5-RING E3 ubiquitin ligase complexes that catalyze ubiquitination and degradation of antiviral APOBEC3 proteins, thereby promoting viral replication 3456. This association also inhibits CBFB's transcriptional coactivator activity. CBFB alterations have significant clinical relevance in hematologic malignancies. CBFB-MYH11 translocations occur in core-binding factor acute myeloid leukemia (CBF-AML), where the fusion protein sequesters CBF-alpha in the cytoplasm and inhibits CBF-mediated transactivation, blocking hematopoietic differentiation 1. Recent proteomic analysis identified a distinct S8 subtype characterized by CBFB::MYH11 fusion 7. CBFB mutations also appear in cervical adenocarcinomas 8 and represent a potential therapeutic target for migraine 9.

Sources cited
1
CBFB functions as a transcriptional coactivator in the CBF complex and is disrupted by MYH11 fusion in AML
PMID: 11561156
2
CBFB (Cbfb) is essential for RUNX3-mediated lineage determination and controls naive T cell homeostasis with age
PMID: 36884349
3
HIV-1 Vif hijacks CBFB for formation of E3 ubiquitin ligase complexes that degrade APOBEC3 proteins
PMID: 22190037
4
CBFB incorporation into Vif-complexes targets APOBEC3F and APOBEC3G for ubiquitination
PMID: 31792451
5
CBFB participates in Vif-mediated APOBEC3 degradation
PMID: 36598981
6
CBFB functions in Vif-induced ubiquitination of antiviral proteins
PMID: 36754086
7
CBFB::MYH11 fusion defines a distinct proteomic subtype (S8) in acute myeloid leukemia
PMID: 40829168
8
CBFB mutations occur in 8% of cervical adenocarcinomas
PMID: 24390348
9
CBFB is identified as a druggable therapeutic target gene for migraine through Mendelian randomization
PMID: 38867170
Disease Associationsⓘ21
cleidocranial dysplasia 1Open Targets
0.72Strong
breast adenocarcinomaOpen Targets
0.51Moderate
lymphoid neoplasmOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
breast carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
lobular breast carcinomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
acute myeloid leukemiaOpen Targets
0.32Weak
multiple myelomaOpen Targets
0.32Weak
osteosarcomaOpen Targets
0.30Weak
oral squamous cell carcinomaOpen Targets
0.28Weak
chronic lymphocytic leukemiaOpen Targets
0.28Weak
hepatocellular carcinomaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
small cell lung carcinomaOpen Targets
0.28Weak
urinary bladder carcinomaOpen Targets
0.28Weak
Cleidocranial dysplasia 2UniProt
Pathogenic Variants2
NM_022845.3(CBFB):c.78+1G>TPathogenic
Cleidocranial dysplasia 2
☆☆☆☆2023
NM_022845.3(CBFB):c.283-1039_400-7568delPathogenic
Cleidocranial dysplasia 2
☆☆☆☆2023
View on ClinVar ↗
Related Genes
LDB1Protein interaction100%GATA1Protein interaction100%TAL1Protein interaction100%RNF7Protein interaction100%ELOCProtein interaction100%CUL5Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
78%
Lung
69%
Heart
65%
Ovary
54%
Liver
43%
Gene Interaction Network
Click a node to explore
CBFBLDB1GATA1TAL1RNF7ELOCCUL5
PROTEIN STRUCTURE
Preparing viewer…
PDB8J62 · 2.50 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.20Tolerant
Observed/Expected LoF0.47 [0.23–1.06]
RankingsWhere CBFB stands among ~20K protein-coding genes
  • #2,216of 20,598
    Most Researched193 · top quartile
  • #4,250of 5,498
    Most Pathogenic Variants2
  • #10,729of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedCBFB
Sources retrieved28 papers
Response time—
📄 Sources
28▼
1
The genomic landscape of core-binding factor acute myeloid leukemias.
PMID: 27798625
Nat Genet · 2016
1.00
2
Identifying therapeutic target genes for migraine by systematic druggable genome-wide Mendelian randomization.
PMID: 38867170
J Headache Pain · 2024
0.90
3
RUNX1 interacts with lncRNA SMANTIS to regulate monocytic cell functions.
PMID: 39271940
Commun Biol · 2024
0.84
4
Prospective evaluation of prognostic impact of KIT mutations on acute myeloid leukemia with RUNX1-RUNX1T1 and CBFB-MYH11.
PMID: 31899799
Blood Adv · 2020
0.80
5
Clinical characteristics and therapeutic determinants of
PMID: 40304077
Haematologica · 2025
0.76