Affinage

CBFB

Core-binding factor subunit beta · UniProt Q13951

Length
182 aa
Mass
21.5 kDa
Annotated
2026-06-09
100 papers in source corpus 26 papers cited in narrative 26 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CBFB encodes the non-DNA-binding beta subunit of core-binding factor, which heterodimerizes with RUNX family transcription factors to enhance their DNA binding and protein stability, and serves as a master regulator across hematopoiesis, skeletal development, and craniofacial morphogenesis (PMID:11110689, PMID:12811622, PMID:25262822). Within the CCAAT-binding context, CBF-B associates with the CBF-A/CBF-C (NF-YB/NF-YC) histone-fold heterodimer—binding the hybrid surface they generate rather than either subunit alone—to form a heterotrimeric DNA-binding complex, and contributes one of two additive transcriptional activation domains (PMID:7878029, PMID:8754798, PMID:8662945). As a RUNX partner, CBFB binds RUNX1/2/3 to enhance their DNA binding and protect them from ubiquitin-mediated proteasomal degradation, an activity essential for Runx1-dependent hematopoiesis, Runx2-driven osteoblast and chondrocyte differentiation, and Runx1-dependent anterior palatogenesis through a Stat3–Tgfb3 axis (PMID:11110689, PMID:17379770, PMID:25262822, PMID:31171577, PMID:32917285). Beyond its nuclear role, CBFB functions in the cytoplasm by binding hundreds of mRNAs via hnRNPK to promote cap-dependent translation through eIF4B, and localizes to mitochondria where it enhances binding of mitochondrial mRNAs to the elongation factor TUFM to support oxidative phosphorylation, with loss of these activities cooperating with oncogenic PIK3CA in breast cancer—establishing CBFB as a tumor suppressor (PMID:31061501, PMID:36799863). The leukemia-associated CBFB-MYH11 fusion generated by inv(16) acts as a dominant-negative oncoprotein that sequesters RUNX1 in cytoplasmic aggregates via its myosin tail, blocking RUNX1 from recruiting DNMT3A to target genes, while also independently driving expression of stem-cell self-renewal genes through occupancy of RUNX1 sites with cofactors including TAL1, FLI1, ERG, GATA2, PU.1, EP300, and CHD7 (PMID:8929537, PMID:24002588, PMID:34336831, PMID:38061017).

Mechanistic history

Synthesis pass · year-by-year structured walk · 18 steps
  1. 1995 High

    Established the architecture of the CCAAT-binding CBF complex, showing CBF-B cannot bind DNA or individual subunits alone but joins a preformed CBF-A/CBF-C heterodimer.

    Evidence Recombinant protein reconstitution, EMSA, and immunoprecipitation with purified E. coli-expressed subunits

    PMID:7878029

    Open questions at the time
    • Did not define the interaction domains structurally
    • Relationship to RUNX-based CBF complexes not addressed
  2. 1996 High

    Defined the molecular basis of CBF assembly and its transactivation capacity, mapping the histone-fold-dependent A/C heterodimer that creates a hybrid surface for CBF-B and locating two additive activation domains.

    Evidence Cross-linking, immunoprecipitation, CBF-C mutagenesis, yeast two-hybrid, and in vitro transcription reconstitution with deletion mutants

    PMID:8662945 PMID:8754798

    Open questions at the time
    • In vitro activation domains not validated in cellular promoter context
    • No structural model of the trimeric surface
  3. 1996 High

    Demonstrated that the inv(16) CBFB-MYH11 fusion acts as a dominant-negative oncoprotein, with knock-in mice phenocopying the hematopoietic block of Cbfb or Runx1 null embryos.

    Evidence Knock-in mouse model, chimeric mouse analysis, embryo phenotyping; Western blot/EMSA/IF in patient nuclei

    PMID:8818654 PMID:8929537

    Open questions at the time
    • Molecular mechanism of dominant inhibition not yet resolved
    • Subcellular basis of RUNX1 inhibition undefined
  4. 2001 Medium

    Localized the dominant-negative mechanism to cytoplasmic sequestration of RUNX1 by CBFB-MYH11, with concomitant loss of transactivation and altered cell-cycle/apoptotic responses.

    Evidence Cell transfection and reporter assays (review summarizing prior experiments)

    PMID:11561156

    Open questions at the time
    • Review-level synthesis rather than a single primary dataset
    • Structural determinant of sequestration in the MYH11 tail not yet mapped
  5. 2002 High

    Defined where in the hematopoietic hierarchy CBFB acts and where the fusion blocks differentiation, placing the defect at the stem/progenitor level.

    Evidence Cbfb-GFP knock-in reporter mouse with flow cytometry, compared to Cbfb-MYH11 knock-in embryos

    PMID:12239155

    Open questions at the time
    • Did not address adult/definitive leukemogenesis directly
    • Cell-intrinsic vs niche contributions not separated
  6. 2003 Medium

    Extended CBFB function beyond blood to skeletal development by showing it is required for both Runx1 and Runx2 activity in osteoblast and chondrocyte differentiation.

    Evidence Cbfb knockout mouse rescue and genetic phenotyping of skeletal and hematopoietic tissues

    PMID:12811622

    Open questions at the time
    • Molecular mechanism (stabilization vs DNA binding) not yet distinguished
    • Review-level summary
  7. 2005 High

    Revealed a non-transcriptional leukemogenic mechanism: CBFB-MYH11 suppresses CEBPA post-translationally by inducing calreticulin, an inhibitor of CEBPA translation.

    Evidence Conditional CBFB-SMMHC expression in U937 cells, Western blot, EMSA, calreticulin siRNA rescue, patient samples

    PMID:15855281

    Open questions at the time
    • Mechanism by which the fusion induces calreticulin unknown
    • In vivo relevance to leukemia not established here
  8. 2007 Medium

    Defined the biochemical basis of CBFB's role in osteogenesis as stabilization of RUNX2 against ubiquitin-mediated degradation.

    Evidence Adenoviral Cbfb/Cbfa-1 overexpression in C3H10T1/2 and human BMSCs, ubiquitination and protein stability assays

    PMID:17379770

    Open questions at the time
    • E3 ligase mediating RUNX2 degradation not identified
    • Single overexpression system
  9. 2009 High

    Showed CBFB-MYH11 has leukemogenic activities independent of dominant RUNX1 repression, producing unique gene-expression and progenitor phenotypes absent in knockout mice.

    Evidence Cbfb-MYH11 knock-in mice vs Cbfb and Runx1 knockouts, flow cytometry, gene expression analysis

    PMID:20007544

    Open questions at the time
    • Molecular drivers of the repression-independent program not identified here
    • Restricted to embryonic hematopoiesis readouts
  10. 2009 Medium

    Identified upstream transcriptional control of CBFB, with GATA-1 repressing the locus by co-occupying PU.1 motifs.

    Evidence Conditional PU.1-ER activation and GATA-1 siRNA in MEL cells, ChIP, reporter assays, expression arrays

    PMID:19825991

    Open questions at the time
    • Physiological significance in normal hematopoiesis unclear
    • Single cell-line model
  11. 2013 High

    Established the genome-wide, gain-of-function transcriptional program of CBFB-MYH11, showing it maintains self-renewal gene expression at RUNX1 sites with a defined cofactor network.

    Evidence ChIP-seq, quantitative interaction proteomics, and shRNA knockdown transcriptional analysis

    PMID:24002588

    Open questions at the time
    • Direct vs indirect cofactor recruitment not fully resolved
    • Causal contribution of individual targets to leukemia untested here
  12. 2015 High

    Consolidated CBFB as a pan-RUNX stabilizer in skeletal tissue and showed RUNX1 activity is required for CBFB-MYH11 leukemogenesis via genetic epistasis.

    Evidence Conditional Cbfb knockout (Dermo1-Cre) with protein stability/reporter assays; Cbfb-MYH11 combined with Runx1 null and dominant-negative alleles, leukemia latency

    PMID:25262822 PMID:25742748

    Open questions at the time
    • Tissue-specific differences in RUNX2 dependence not mechanistically explained
    • Residual leukemia in Runx1-deficient background implies additional drivers
  13. 2017 High

    Identified CHD7 as a cofactor enhancing RUNX1/CBFB-MYH11 transcription and a p53-RUNX1-CBFB feedback loop conferring chemoresistance.

    Evidence Co-IP, conditional Chd7 knockout in Cbfb-MYH11 mice, reporter/RNA-seq; RUNX1 siRNA, p53 ChIP on CBFB promoter, reporter, patient samples

    PMID:29018080 PMID:29192243

    Open questions at the time
    • Therapeutic exploitability of the feedback loop not tested
    • Generality of CHD7 dependence across genotypes unclear
  14. 2019 High

    Uncovered a cytoplasmic, non-canonical CBFB function in mRNA translation via hnRNPK/eIF4B and a tumor-suppressive nuclear role repressing NOTCH in breast cancer.

    Evidence RIP-seq, CBFB-hnRNPK and CBFB-eIF4B co-IP, polysome profiling, reporter assays, knockdown/rescue

    PMID:31061501

    Open questions at the time
    • How CBFB partitions between nuclear and cytoplasmic roles unknown
    • Selectivity for target mRNAs not fully defined
  15. 2019 Medium

    Placed CBFB in a Runx1-Stat3-Tgfb3 craniofacial signaling axis required for anterior palatogenesis, with folic acid rescue.

    Evidence Cbfb conditional knockout mouse, palatal fusion rescue with TGFB3, folic acid treatment, phospho-Stat3/TGFB3 immunostaining

    PMID:31171577

    Open questions at the time
    • Direct transcriptional targets in the axis not mapped
    • Mechanism of folic acid rescue unresolved
  16. 2020 High

    Demonstrated the CBFB-MYH11 fusion junction generates a presented, immunogenic neoantigen targetable by cytotoxic T cells, and that miR-27b regulates CBFB in chondrocyte differentiation.

    Evidence HLA peptide elution/MS, T cell cloning and cytotoxicity, TCR transduction, PDX; CBFB-RUNX2 co-IP, miR-27b luciferase reporter, shRNA knockdown, cartilage implant

    PMID:32831296 PMID:32917285

    Open questions at the time
    • Clinical efficacy of neoantigen-directed therapy untested
    • HLA restriction limits applicability
  17. 2021 Medium

    Mechanistically connected the fusion's cytoplasmic RUNX1 sequestration to epigenetic dysregulation (blocked DNMT3A recruitment) and defined a CBFB-p53-TAp73 tumor-suppressive network.

    Evidence RUNX1-DNMT3A co-IP, CBFB-MYH11 expression, methylation/expression profiling, patient mutual exclusivity; CBFB/p53 knockdown, TAp73 rescue, xenografts

    PMID:33945523 PMID:34336831

    Open questions at the time
    • Direct vs indirect DNMT3A recruitment effects not fully separated
    • Single-lab knockdown/rescue systems
  18. 2023 High

    Defined a mitochondrial translation role for CBFB via TUFM and used unbiased proximity proteomics to confirm the fusion's interactome is predominantly cytoplasmic, sequestering RUNX1 in aggregates.

    Evidence Proteomics interactome, mitochondrial fractionation, RIP (CBFB-mRNA-TUFM), metabolic/autophagy assays, PDX; TurboID proximity biotinylation in primary cells with IF validation

    PMID:36799863 PMID:38061017

    Open questions at the time
    • How CBFB is imported to and retained in mitochondria unknown
    • Paradoxical increased RUNX1/2 transcription with fusion not mechanistically resolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How CBFB is partitioned among its nuclear transcriptional, cytoplasmic translational, and mitochondrial roles—and how these are coordinately regulated in normal versus malignant cells—remains unresolved.
  • No structural or regulatory mechanism governing CBFB compartmentalization identified
  • Relative contribution of each subcellular function to tumor suppression unquantified
  • No structural model of CBFB-MYH11 cytoplasmic aggregates

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 3 GO:0003723 RNA binding 2 GO:0045182 translation regulator activity 2 GO:0060090 molecular adaptor activity 2 GO:0140110 transcription regulator activity 2
Localization
GO:0005634 nucleus 2 GO:0005829 cytosol 2 GO:0005739 mitochondrion 1
Pathway
R-HSA-1266738 Developmental Biology 3 R-HSA-1643685 Disease 3 R-HSA-392499 Metabolism of proteins 2 R-HSA-74160 Gene expression (Transcription) 2
Partners
CHD7EIF4BHNRNPKNFYCRUNX1RUNX2RUNX3TUFM
Complex memberships
CCAAT-binding factor (NF-Y) trimercore-binding factor (CBF/RUNX)

Evidence

Reading pass · 26 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1995 CBF-C (NF-YC) is required together with CBF-A and CBF-B to form a CBF-DNA complex on CCAAT motifs; CBF-A and CBF-C interact with each other to form a heterodimer, and CBF-B associates with the CBF-A–CBF-C complex but not with either subunit individually. Recombinant protein reconstitution, EMSA, immunoprecipitation with purified subunits expressed in E. coli Proceedings of the National Academy of Sciences of the United States of America High 7878029
1996 CBF-B interacts simultaneously with both CBF-A and CBF-C subunits to form a heterotrimeric CBF molecule; the evolutionarily conserved histone-fold motif segment of CBF-C is necessary for CBF-DNA complex formation; CBF-A and CBF-C interact via histone-fold motifs to form a heterodimer that generates a hybrid surface for CBF-B interaction. Cross-linking, immunoprecipitation, mutational analysis of CBF-C, in vitro EMSA, yeast two-hybrid Molecular and cellular biology High 8754798
1996 CBF transcriptional activation is mediated by two distinct activation domains: one in CBF-B (N-terminal residues 1–224) and one in CBF-C (C-terminal residues 114–309); the two domains act additively in an in vitro transcription assay. In vitro transcription reconstitution with purified recombinant CBF subunits and deletion mutants, nuclear extract depletion/add-back assay The Journal of biological chemistry High 8662945
1996 The CBFB-MYH11 fusion oncogene, generated by inv(16), acts as a dominant negative inhibitor of normal CBFB/RUNX1 function; heterozygous knock-in of Cbfb-MYH11 in mice blocks definitive hematopoiesis, phenocopying homozygous deletion of Cbfb or Cbfa2 (AML1/RUNX1). Knock-in mouse model (homologous recombination ES cells), chimeric mouse analysis, embryo phenotyping Cell High 8929537
1996 The CBFB-MYH11 fusion protein (CBFβ-SMMHC) is expressed as a ~70–95 kDa protein in inv(16) AML patient nuclei and forms a very high molecular weight protein-DNA complex in electrophoretic mobility shift assays; the protein is organized into novel structures within cell nuclei. Western blot with anti-CBFB and anti-MYH11 antisera, EMSA with patient nuclear extracts, immunofluorescence staining Genes, chromosomes & cancer Medium 8818654
2000 Zebrafish cbfb protein binds to human CBFα2 (RUNX1) and enhances its DNA binding activity; cbfb is expressed in early hematopoietic progenitors in the intermediate cell mass, and its expression pattern resembles that of scl in hematopoietic mutants. Biochemical binding assay (recombinant protein), EMSA, in situ hybridization during zebrafish development, analysis in hematopoietic mutant zebrafish Blood Medium 11110689
2001 Expression of CBFB-MYH11 leads to sequestration of CBFα2 (RUNX1) in the cytoplasm, inhibits CBF-mediated transactivation, slows cell cycle progression, delays apoptotic response to DNA-damaging agents, and protects CBFα2 from degradation. In vitro cell transfection studies, reporter assays (review summarizing published experiments) Current opinion in hematology Medium 11561156
2002 Cbfb is expressed in hematopoietic stem cells and progenitors during midgestation and in adult myeloid and lymphoid cells but not during terminal erythropoiesis; Cbfb-MYH11 blocks embryonic hematopoiesis at the stem-progenitor cell level. Cbfb-GFP knock-in mouse model, flow cytometry of hematopoietic populations, comparison with Cbfb-MYH11 knock-in embryos Blood High 12239155
2003 Cbfb is required for the functions of both Runx1 and Runx2 in hematopoiesis and skeletal development; Runx2/Cbfb heterodimers play essential roles in osteoblast differentiation and chondrocyte maturation. Cbfb knockout mouse rescue experiments, genetic analysis of skeletal and hematopoietic phenotypes Journal of bone and mineral metabolism Medium 12811622
2005 CBFβ-SMMHC (CBFB-MYH11 fusion protein) suppresses CEBPA protein expression and binding activity post-translationally by inducing calreticulin, an inhibitor of CEBPA translation; CEBPA mRNA levels are unchanged, but protein and binding activity are reduced; siRNA knockdown of calreticulin restores CEBPA protein levels. Conditional expression of CBFB-SMMHC in U937 cells, Western blot, EMSA, siRNA knockdown, mRNA quantification (qRT-PCR), patient sample analysis Blood High 15855281
2007 Cbfb enhances osteogenic differentiation of mesenchymal stem cells by stabilizing Cbfa-1 (RUNX2) through suppression of ubiquitination-mediated proteasomal degradation; Cbfb alone does not trigger osteogenesis. Recombinant adenovirus overexpression of Cbfb and Cbfa-1 in mouse C3H10T1/2 cells and human BMSCs, Western blot, ubiquitination assay, alkaline phosphatase assay Stem cells (Dayton, Ohio) Medium 17379770
2009 CBFB-MYH11 causes Cbfb/Runx1 repression-independent hematopoietic defects, including sustained expression of Gata2, Il1rl1, and Csf2rb in primitive hematopoiesis and accumulation of abnormal Csf2rb-expressing progenitors — a phenotype not found in Cbfb or Runx1 knockout mice — demonstrating that CBFβ-SMMHC has leukemogenic activities independent of dominant RUNX1 repression. Cbfb-MYH11 knock-in mouse model, comparison with Cbfb and Runx1 knockout mice, flow cytometry, gene expression analysis Blood High 20007544
2009 GATA-1 transcriptionally represses Cbfb expression by co-occupying PU.1 motif sequences near the Cbfb locus; conditional activation of PU.1 or knockdown of GATA-1 leads to derepression of Cbfb associated with increased histone H3K9 acetylation. Conditional PU.1-ER activation in MEL cells, siRNA knockdown of GATA-1, ChIP, reporter assays, gene expression arrays Molecular cancer research : MCR Medium 19825991
2013 CBFβ-SMMHC localizes to RUNX1-occupied promoters genome-wide, where it interacts with TAL1, FLI1, TBP-associated factors (TAFs), ERG, GATA2, PU.1, EP300, and HDAC1; the majority of CBFβ-SMMHC target genes (including ID1, LMO1, JAG1) are actively transcribed and are repressed upon fusion protein knockdown, indicating CBFβ-SMMHC maintains expression of stem cell self-renewal genes. Genome-wide ChIP-seq, quantitative interaction proteomics (mass spectrometry), transcriptional analysis with shRNA knockdown of CBFB-MYH11 Leukemia High 24002588
2015 Cbfb stabilizes all three Runx family proteins (Runx1, Runx2, Runx3) in chondrocytes and osteoblasts; conditional deletion of Cbfb in mesenchymal cells reduces Runx protein levels and impairs chondrocyte differentiation/proliferation and osteoblast differentiation; Runx2 protein stability is less dependent on Cbfb in calvariae than in cartilaginous limb skeletons. Conditional Cbfb knockout (Dermo1-Cre), Western blot for Runx protein levels, protein stability assay, reporter assays for Ihh/Col10a1/Bglap2 promoters, in vitro differentiation Journal of bone and mineral research High 25262822
2015 Runx1 activity is critical for Cbfb-MYH11-induced hematopoietic defects and leukemogenesis; loss of Runx1 (homozygous null or dominant-negative allele) rescues differentiation defects induced by Cbfb-MYH11 during primitive hematopoiesis and significantly reduces proliferation/differentiation defects in definitive hematopoiesis; Cbfb-MYH11-induced leukemia has longer latency in Runx1-deficient mice. Genetic epistasis: Cbfb-MYH11 knock-in combined with Runx1 null and dominant-negative alleles; mouse leukemia latency analysis, flow cytometry Leukemia High 25742748
2017 CHD7 interacts with CBFβ-SMMHC through RUNX1 and enhances transcriptional activity of RUNX1 and CBFβ-SMMHC on target genes (e.g., Csf1r); Chd7 deficiency delays Cbfb-MYH11-induced leukemia by reducing LK progenitor proliferation and altering RUNX1 target gene expression. Co-immunoprecipitation (CHD7–CBFβ-SMMHC–RUNX1 interaction), conditional Chd7 knockout in Cbfb-MYH11 knock-in mice, in vitro transcription reporter assay, BrdU incorporation, RNA-seq, leukemia latency analysis Blood High 29018080
2017 p53 induced by RUNX1 depletion directly binds to the CBFB promoter and stimulates CBFB transcription and translation; increased CBFB in turn acts as a platform for RUNX1 stabilization, creating a compensatory RUNX1-p53-CBFB feedback loop that confers resistance to chemotherapy in AML cells. RUNX1 siRNA knockdown, chromatin immunoprecipitation (p53 binding to CBFB promoter), reporter assay, Western blot for protein levels, AML patient sample analysis Scientific reports Medium 29192243
2019 CBFB binds to hundreds of mRNAs via hnRNPK in the cytoplasm and enhances their translation through eIF4B; among the translationally regulated targets is RUNX1 mRNA itself. Nuclear CBFB/RUNX1 complex transcriptionally represses the NOTCH signaling pathway in breast cancer. RNA immunoprecipitation followed by deep sequencing (RIP-seq), co-immunoprecipitation (CBFB–hnRNPK, CBFB–eIF4B), polysome profiling, reporter assay, CBFB knockdown/rescue Nature communications High 31061501
2019 Cbfb is an essential cofactor of Runx1 in anterior palatogenesis; Cbfb mutant mice exhibit failed epithelial disintegration at the anterior palate, disrupted TGFB3 expression, and impaired Stat3 phosphorylation; folic acid rescues anterior cleft palate by restoring Stat3 phosphorylation and Tgfb3 expression, placing Cbfb in a Runx1/Cbfb–Stat3–Tgfb3 signaling axis. Cbfb conditional knockout mouse, in vitro palatal fusion rescue with TGFB3 protein, folic acid treatment, immunostaining for phospho-Stat3 and TGFB3 Disease models & mechanisms Medium 31171577
2021 CBFB cooperates with p53 to maintain TAp73 expression; loss of either CBFB or p53 leads to TAp73 depletion; TAp73 re-expression abrogates the tumorigenic effect of CBFB deletion; TAp73 loss enhances tumorigenesis driven by NOTCH3 overexpression (a downstream event of CBFB loss). Integrated genomic analysis of CBFB/TP53 mutual exclusivity, CBFB and p53 knockdown, TAp73 re-expression rescue, xenograft tumor growth, immunohistochemistry PLoS genetics Medium 33945523
2021 The CBFB-MYH11 fusion protein sequesters RUNX1 in the cytoplasm, preventing RUNX1 from interacting with and recruiting DNMT3A to its target genes; CBFB-MYH11 expression phenocopies DNMT3A loss-of-function in producing DNA hypomethylation at RUNX1 target genes; CBFB-MYH11 mutations and DNMT3A mutations are mutually exclusive in AML. Co-immunoprecipitation (RUNX1–DNMT3A interaction), CBFB-MYH11 expression system, DNA methylation analysis, gene expression profiling, mutual exclusivity analysis in patient cohorts Frontiers in cell and developmental biology Medium 34336831
2023 CBFB localizes to mitochondria and functions in mitochondrial translation by enhancing the binding of mitochondrial mRNAs to TUFM (mitochondrial translation elongation factor); CBFB loss-of-function causes defective oxidative phosphorylation, Warburg effect, and autophagy/mitophagy addiction; this mitochondrial translation role cooperates with oncogenic PIK3CA mutations in breast cancer progression. Integrated omics (proteomics interactome of CBFB), mitochondrial fractionation, RIP demonstrating CBFB–mRNA–TUFM interaction, metabolic assays (OXPHOS, glycolysis), autophagy flux assays, mouse tumor models and PDX Cancer research High 36799863
2023 Using proximity biotinylation (TurboID) in primary hematopoietic cells, CBFB::MYH11 interacting proteins are largely cytoplasmic, owing to interaction of the MYH11 domain with cytoplasmic myosin-related proteins; the CBFB domain of CBFB::MYH11 sequesters RUNX1 in cytoplasmic aggregates in primary human AML cells; paradoxically, CBFB::MYH11 expression is associated with increased RUNX1/2 transcription, suggesting a compensatory feedback mechanism. TurboID proximity biotinylation fused to oncofusion proteins in primary murine hematopoietic cells, mass spectrometry interactome, immunofluorescence/subcellular fractionation in primary human AML cells The Journal of clinical investigation High 38061017
2020 A nonameric peptide derived from the CBFB-MYH11 fusion junction is naturally presented on HLA-B*40:01 on AML blasts and is immunogenic; high-avidity CD8+ T cell clones recognizing this neoepitope kill CBFB-MYH11+ AML cells in vitro and control AML in a patient-derived xenograft model in vivo. HLA peptide elution and mass spectrometry (neoantigen presentation), T cell cloning, cytotoxicity assays, TCR transduction, PDX mouse model The Journal of clinical investigation High 32831296
2020 CBFB interacts with RUNX2 (co-immunoprecipitation confirmed), and miR-27b targets CBFB to inhibit hypertrophic chondrocyte differentiation of human BMSCs; CBFB knockdown by shRNA increases COL2/SOX9 expression and decreases COL10 expression. Co-immunoprecipitation (CBFB–RUNX2), luciferase reporter assay (miR-27b targeting CBFB 3'-UTR), shRNA knockdown of CBFB, RT-qPCR and Western blot, in vivo cartilage implant model Stem cell research & therapy Medium 32917285

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1995 Recombinant rat CBF-C, the third subunit of CBF/NFY, allows formation of a protein-DNA complex with CBF-A and CBF-B and with yeast HAP2 and HAP3. Proceedings of the National Academy of Sciences of the United States of America 253 7878029
1996 Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11. Cell 249 8929537
2018 Long Noncoding RNA LINC01234 Functions as a Competing Endogenous RNA to Regulate CBFB Expression by Sponging miR-204-5p in Gastric Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 185 29386218
2003 Requisite roles of Runx2 and Cbfb in skeletal development. Journal of bone and mineral metabolism 171 12811622
1996 Determination of functional domains in the C subunit of the CCAAT-binding factor (CBF) necessary for formation of a CBF-DNA complex: CBF-B interacts simultaneously with both the CBF-A and CBF-C subunits to form a heterotrimeric CBF molecule. Molecular and cellular biology 130 8754798
2018 Circular RNA circ-CBFB promotes proliferation and inhibits apoptosis in chronic lymphocytic leukemia through regulating miR-607/FZD3/Wnt/β-catenin pathway. Biochemical and biophysical research communications 113 29902450
2004 Plag1 and Plagl2 are oncogenes that induce acute myeloid leukemia in cooperation with Cbfb-MYH11. Blood 112 15585652
2004 Identification of genes that synergize with Cbfb-MYH11 in the pathogenesis of acute myeloid leukemia. Proceedings of the National Academy of Sciences of the United States of America 111 15044690
2009 Dysregulation of the transcription factors SOX4, CBFB and SMARCC1 correlates with outcome of colorectal cancer. British journal of cancer 96 19156145
2005 CBFB-SMMHC is correlated with increased calreticulin expression and suppresses the granulocytic differentiation factor CEBPA in AML with inv(16). Blood 80 15855281
2015 Cbfb regulates bone development by stabilizing Runx family proteins. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 77 25262822
1998 Inversion of chromosome 16 and uncommon rearrangements of the CBFB and MYH11 genes in therapy-related acute myeloid leukemia: rare events related to DNA-topoisomerase II inhibitors? Journal of clinical oncology : official journal of the American Society of Clinical Oncology 75 9586906
1995 Detection of CBFB/MYH11 transcripts in patients with inversion and other abnormalities of chromosome 16 at presentation and remission. British journal of haematology 75 7577615
2020 CBFB-MYH11 fusion neoantigen enables T cell recognition and killing of acute myeloid leukemia. The Journal of clinical investigation 73 32831296
2019 The transcription factor CBFB suppresses breast cancer through orchestrating translation and transcription. Nature communications 71 31061501
1996 The transcriptional activity of the CCAAT-binding factor CBF is mediated by two distinct activation domains, one in the CBF-B subunit and the other in the CBF-C subunit. The Journal of biological chemistry 70 8662945
2013 CBFB-MYH11/RUNX1 together with a compendium of hematopoietic regulators, chromatin modifiers and basal transcription factors occupies self-renewal genes in inv(16) acute myeloid leukemia. Leukemia 69 24002588
2005 Frequent downregulation of the runt domain transcription factors RUNX1, RUNX3 and their cofactor CBFB in gastric cancer. International journal of cancer 65 15386419
1995 RT-PCR diagnosis of patients with acute nonlymphocytic leukemia and inv(16)(p13q22) and identification of new alternative splicing in CBFB-MYH11 transcripts. Blood 60 7795233
2004 Mechanism of leukemogenesis by the inv(16) chimeric gene CBFB/PEBP2B-MHY11. Oncogene 56 15156186
2018 CSF3R Mutations are frequently associated with abnormalities of RUNX1, CBFB, CEBPA, and NPM1 genes in acute myeloid leukemia. Cancer 55 29932212
1996 Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells. Genes, chromosomes & cancer 55 8818654
2015 MicroRNA-145 regulates osteoblastic differentiation by targeting the transcription factor Cbfb. FEBS letters 48 26450370
2015 Runx1 is required for hematopoietic defects and leukemogenesis in Cbfb-MYH11 knock-in mice. Leukemia 47 25742748
2002 Role of Cbfb in hematopoiesis and perturbations resulting from expression of the leukemogenic fusion gene Cbfb-MYH11. Blood 46 12239155
2011 KIT with D816 mutations cooperates with CBFB-MYH11 for leukemogenesis in mice. Blood 43 22160378
2009 Cbfb/Runx1 repression-independent blockage of differentiation and accumulation of Csf2rb-expressing cells by Cbfb-MYH11. Blood 43 20007544
2007 Rare CBFB-MYH11 fusion transcripts in AML with inv(16)/t(16;16) are associated with therapy-related AML M4eo, atypical cytomorphology, atypical immunophenotype, atypical additional chromosomal rearrangements and low white blood cell count: a study on 162 patients. Leukemia 43 17287858
2012 inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations. Blood 37 23160462
2000 Zebrafish homolog of the leukemia gene CBFB: its expression during embryogenesis and its relationship to scl and gata-1 in hematopoiesis. Blood 36 11110689
2017 Autonomous feedback loop of RUNX1-p53-CBFB in acute myeloid leukemia cells. Scientific reports 29 29192243
2001 Detection and quantification of CBFB/MYH11 fusion transcripts in patients with inv(16)-positive acute myeloblastic leukemia by real-time RT-PCR. Genes, chromosomes & cancer 29 11241787
2020 circ-CBFB upregulates p66Shc to perturb mitochondrial dynamics in APAP-induced liver injury. Cell death & disease 28 33159035
2021 Circular RNA_0062582 promotes osteogenic differentiation of human bone marrow mesenchymal stem cells via regulation of microRNA-145/CBFB axis. Bioengineered 26 34027799
2006 Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome. American journal of medical genetics. Part A 26 17022082
2001 Function of the inv(16) fusion gene CBFB-MYH11. Current opinion in hematology 26 11561156
2017 Myeloid neoplasms with concurrent BCR-ABL1 and CBFB rearrangements: A series of 10 cases of a clinically aggressive neoplasm. American journal of hematology 25 28253536
2017 Chd7 deficiency delays leukemogenesis in mice induced by Cbfb-MYH11. Blood 25 29018080
2002 Minimal residual disease quantification in patients with acute myeloid leukaemia and inv(16)/CBFB-MYH11 gene fusion. British journal of haematology 25 12139724
2009 PU.1 activation relieves GATA-1-mediated repression of Cebpa and Cbfb during leukemia differentiation. Molecular cancer research : MCR 24 19825991
2007 Cbfb enhances the osteogenic differentiation of both human and mouse mesenchymal stem cells induced by Cbfa-1 via reducing its ubiquitination-mediated degradation. Stem cells (Dayton, Ohio) 24 17379770
2019 IL1RL1 is dynamically expressed on Cbfb-MYH11+ leukemia stem cells and promotes cell survival. Scientific reports 21 30742053
2017 AML associated oncofusion proteins PML-RARA, AML1-ETO and CBFB-MYH11 target RUNX/ETS-factor binding sites to modulate H3ac levels and drive leukemogenesis. Oncotarget 21 28030795
2004 Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. Congenital anomalies 21 15566413
2021 The p53/miR-145a Axis Promotes Cellular Senescence and Inhibits Osteogenic Differentiation by Targeting Cbfb in Mesenchymal Stem Cells. Frontiers in endocrinology 20 33505358
2006 Granulocytic sarcoma of mesentery in acute myeloid leukemia with CBFB/MYH11 fusion gene but not inv(16) chromosome: case report and review of literature. Leukemia research 20 16504290
2001 Identification of a novel CBFB-MYH11 transcript: implications for RT-PCR diagnosis. The hematology journal : the official journal of the European Haematology Association 20 11920247
2010 Acute myeloid leukemia with inv(16) with CBFB-MYH11, 3'CBFB deletion, variant t(9;22) with BCR-ABL1, and del(7)(q22q32) in a pediatric patient: case report and literature review. Cancer genetics and cytogenetics 19 20513535
1995 Structure of the leukemia-associated human CBFB gene. Genomics 19 7607682
2017 Clinical Relevance of RUNX1 and CBFB Alterations in Acute Myeloid Leukemia and Other Hematological Disorders. Advances in experimental medicine and biology 18 28299658
2006 CBFB-MYH11 hinders early T-cell development and induces massive cell death in the thymus. Blood 18 17185462
2020 Myeloid Sarcoma With CBFB-MYH11 Fusion (inv(16) or t(16;16)) Prevails in the Abdomen. American journal of clinical pathology 17 31671434
2020 MicroRNA-27b targets CBFB to inhibit differentiation of human bone marrow mesenchymal stem cells into hypertrophic chondrocytes. Stem cell research & therapy 17 32917285
2019 Gata2 deficiency delays leukemogenesis while contributing to aggressive leukemia phenotype in Cbfb-MYH11 knockin mice. Leukemia 17 31624376
2000 CBFB/MYH11 fusion in a patient with AML-M4Eo and cytogenetically normal chromosomes 16. Genes, chromosomes & cancer 17 10959099
2015 Acute myeloid leukaemia (FAB AML-M4Eo) with cryptic insertion of cbfb resulting in cbfb-Myh11 fusion. Hematological oncology 16 28906004
2021 CBFB cooperates with p53 to maintain TAp73 expression and suppress breast cancer. PLoS genetics 15 33945523
2021 CBFB-MYH11 Fusion Sequesters RUNX1 in Cytoplasm to Prevent DNMT3A Recruitment to Target Genes in AML. Frontiers in cell and developmental biology 14 34336831
2009 Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits. Cancer genetics and cytogenetics 14 19215788
2004 Deletion of CBFB in a patient with acute myelomonocytic leukemia (AML M4Eo) and inversion 16. Cancer genetics and cytogenetics 14 15381374
2023 Dysregulation of Mitochondrial Translation Caused by CBFB Deficiency Cooperates with Mutant PIK3CA and Is a Vulnerability in Breast Cancer. Cancer research 13 36799863
2022 Different Requirements of CBFB and RUNX2 in Skeletal Development among Calvaria, Limbs, Vertebrae and Ribs. International journal of molecular sciences 13 36362086
2006 Detection of the CBFB/MYH11 fusion gene in de novo acute myeloid leukemia (AML): a single-institution study of 224 Japanese AML patients. Leukemia research 13 17052753
1996 The gene product of CBFB-MYH11. Leukemia 12 8751466
2022 Circ-CBFB exacerbates hypoxia/reoxygenation-triggered cardiomyocyte injury via regulating miR-495-3p in a VDAC1-dependent manner. Journal of biochemical and molecular toxicology 11 35920438
2019 Anterior cleft palate due to Cbfb deficiency and its rescue by folic acid. Disease models & mechanisms 11 31171577
2019 RUNX2/CBFB modulates the response to MEK inhibitors through activation of receptor tyrosine kinases in KRAS-mutant colorectal cancer. Translational oncology 11 31865182
2014 CBFB-MYH11 hypomethylation signature and PBX3 differential methylation revealed by targeted bisulfite sequencing in patients with acute myeloid leukemia. Journal of hematology & oncology 11 25266220
2023 Proteogenomic analysis reveals cytoplasmic sequestration of RUNX1 by the acute myeloid leukemia-initiating CBFB::MYH11 oncofusion protein. The Journal of clinical investigation 10 38061017
2013 Acute myeloid leukemia with t(16;16) (p13;q22) showing a new CBFB-MYH11 fusion transcript associated with an atypical leukemic blasts morphology. Human pathology 10 24342433
2022 Comprehensive Mutation Profile in Acute Myeloid Leukemia Patients with RUNX1-RUNX1T1 or CBFB-MYH11 Fusions. Turkish journal of haematology : official journal of Turkish Society of Haematology 9 35445594
2000 Deletion of 3'-CBFB gene in association with an inversion (16)(p13q22) and a loss of the Y chromosome in a 2-year-Old child with acute myelogenous leukemia-M4. Cancer genetics and cytogenetics 9 11063812
2020 De Novo Acute Myeloid Leukemia with Combined CBFB-MYH11 and BCR-ABL1 Gene Rearrangements: A Case Report and Review of Literature. Case reports in hematology 8 33489389
2008 Banding and molecular cytogenetic studies detected a CBFB-MYH11 fusion gene that appeared as abnormal chromosomes 1 and 16 in a baby with acute myeloid leukemia FAB M4-Eo. Cancer genetics and cytogenetics 8 18328953
2002 Chromosome 16 inversion-associated translocations in acute myeloid leukemia elucidated using a dual-color CBFB DNA probe. Cancer genetics and cytogenetics 8 12034528
2023 Characterization of leukemia progression in the Cbfb-MYH11 knockin mice by single cell RNA sequencing. Leukemia 7 37225965
2022 Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia. Journal of medical genetics 7 36241386
2020 Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5'MYH11/3'CBFB gene fusion: a report of two cases and literature review. Molecular cytogenetics 7 32015759
2014 Runx/Cbfb signaling regulates postnatal development of granular convoluted tubule in the mouse submandibular gland. Developmental dynamics : an official publication of the American Association of Anatomists 7 25410786
2025 Clinical characteristics and therapeutic determinants of RUNX1::RUNX1T1 differ from those of CBFB::MYH11 acute myeloid leukemia. Haematologica 6 40304077
2023 Multiple roles of LncRNA-BMNCR on cell proliferation and apoptosis by targeting miR-145/CBFB axis in BMECs. The veterinary quarterly 6 37807922
2022 Cancer-Associated Exosomal CBFB Facilitates the Aggressive Phenotype, Evasion of Oxidative Stress, and Preferential Predisposition to Bone Prometastatic Factor of Breast Cancer Progression. Disease markers 6 35903297
2021 CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management. Cancers 6 34771519
2020 The transcription factor CBFB mutations indicate an improved survival in HR+/HER2- breast cancer. Gene 6 32711101
1996 CBFB/MYH11 fusion transcripts in a case of acute myelogenous leukemia (M1) with partial deletion of the long arm of chromosome 16. Internal medicine (Tokyo, Japan) 6 8739792
2007 Gain of multiple copies of the CBFB gene: a new genetic aberration in a case of granulocytic sarcoma. Cancer genetics and cytogenetics 5 17981216
1996 Clinical aspects of expression of inversion 16 chromosomal fusion transcript CBFB/MYH11 in acute myelogenous leukemia subtype M1 with abnormal bone marrow eosinophilia. Leukemia 5 8847901
2025 A Case of Cryptic CBFB::MYH11 Acute Myeloid Leukemia With Noncanonical Breakpoints Detected by Optical Genome Mapping. Journal of the National Comprehensive Cancer Network : JNCCN 4 40345240
2022 3'CBFB deletion in CBFB-rearranged acute myeloid leukemia retains morphological features associated with inv(16), but patients have higher risk of relapse and may require stem cell transplant. Annals of hematology 4 35184217
2020 Sustained Complete Remission with Incomplete Hematologic Recovery (CRi) in a Patient with Relapsed AML and Concurrent BCR-ABL1 and CBFB Rearrangement Treated with a Combination of Venetoclax and 5-Azacytidine. Chemotherapy 3 32570264
2025 A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia. Clinical genetics 2 39894570
2025 Unfavorable disease progression in patients with chronic myeloid leukemia and concurrent t(6;9) translocation (DEK::NUP214 fusion) or inversion 16 (CBFB::MYH11 fusion). Cancer genetics 2 40882571
2024 Integrative immunophenotypic and genetic characterization of acute myeloid leukemia with CBFB rearrangement. American journal of clinical pathology 2 38801226
2023 Autophagy Inhibition as a Potential Therapeutic Strategy for Breast Cancer with Mitochondrial Translation Defect Caused by CBFB-Deficiency. Autophagy 2 37115099
2022 CircRIP2 aggravates the deterioration of colorectal carcinoma by negatively regulating CBFB. European review for medical and pharmacological sciences 2 35647832
2022 Molecular dissection of a hyper-aggressive CBFB-MYH11/FLT3-ITD-positive acute myeloid leukemia. Journal of translational medicine 2 35794567
2015 Therapy-related leukemia with Inv(16)(p13.1q22) and type D CBFB/MYH11 developing after exposure to irinotecan-containing chemoradiotherapy. Internal medicine (Tokyo, Japan) 2 25786458
2006 Diagnosis and monitoring of CBFB-MYH11-positive acute myeloid leukemia by qualitative and quantitative RT-PCR. Methods in molecular medicine 2 16502584
2022 Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia. Cancer genetics 1 35613501
2022 PPP1R7 Is a Novel Translocation Partner of CBFB via t(2;16)(q37;q22) in Acute Myeloid Leukemia. Genes 1 36011278

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