CBFB Gene

Name	core-binding factor, beta subunit
Description	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Core‐binding factor β (CBFβ) is the non–DNA‐binding subunit that heterodimerizes with the RUNX family of transcription factors to enhance their DNA‐binding affinity and thereby regulate a broad spectrum of developmental and cellular processes. Notably, CBFβ is essential for embryonic hematopoietic stem cell emergence, skeletal formation, and the normal differentiation of lymphoid and myeloid lineages."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In addition to its canonical transcriptional cofactor role, recent work has uncovered a noncanonical function for CBFβ in the cytoplasm where it binds hundreds of transcripts via its interactor hnRNPK to promote translation through factors such as eIF4B—even modulating the translation of RUNX1 mRNA itself—thus impacting oncogenic pathways in breast cancer."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Proteomic analyses have further expanded the functional network of CBFβ by identifying novel interactions with key transcriptional and signaling effectors, including the Hippo pathway components YAP and TAZ, suggesting additional roles in governing cell fate decisions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Structural and energetic studies have defined the N-terminal “Runt” domain interface of RUNX proteins that mediates heterodimerization with CBFβ. These analyses demonstrate that specific “hot spot” residues in both CBFβ and RUNX are critical for complex formation and function, providing a molecular basis for its role in transcriptional regulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": " Furthermore, CBFβ is also appropriated by pathogens; for example, in HIV-1 infection, the viral infectivity factor (Vif) selectively binds to distinct surfaces on CBFβ to stabilize its expression and facilitate APOBEC3 degradation, thereby subverting host defense mechanisms."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the cancer realm, dysregulation or mutation of CBFβ has been implicated in diverse malignancies. Defects in CBFβ function contribute not only to aberrant transcriptional programs in hematopoiesis—as seen in leukemias—but also to tumorigenesis in solid tumors such as osteosarcoma and breast cancer, where alterations in CBFβ expression or mutation status correlate with distinct clinical subtypes and outcomes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings illuminate a multifaceted role for CBFβ as not only a facilitator of RUNX-dependent transcription but also as a regulator of mRNA translation and a participant in protein interaction networks that influence development, differentiation, and tumorigenesis. This dual functionality makes CBFβ a promising target for therapeutic interventions in a variety of diseases.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Janelle Miller, Alan Horner, Terryl Stacy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The core-binding factor beta subunit is required for bone formation and hematopoietic maturation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1049"}], "href": "https://doi.org/10.1038/ng1049"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12434155"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12434155"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Navdeep Malik, Hualong Yan, Nellie Moshkovich, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The transcription factor CBFB suppresses breast cancer through orchestrating translation and transcription."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-019-10102-6"}], "href": "https://doi.org/10.1038/s41467-019-10102-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31061501"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31061501"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Priyanka Kohli, Malte P Bartram, Sandra Habbig, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Label-free quantitative proteomic analysis of the YAP/TAZ interactome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Cell Physiol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpcell.00339.2013"}], "href": "https://doi.org/10.1152/ajpcell.00339.2013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24573087"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24573087"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Lina Zhang, Zhe Li, Jiangli Yan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutagenesis of the Runt domain defines two energetic hot spots for heterodimerization with the core binding factor beta subunit."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M303972200"}], "href": "https://doi.org/10.1074/jbc.M303972200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12807883"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12807883"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "X Huang, B E Crute, C Sun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Overexpression, purification, and biophysical characterization of the heterodimerization domain of the core-binding factor beta subunit."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (1998)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.273.4.2480"}], "href": "https://doi.org/10.1074/jbc.273.4.2480"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "9442100"}], "href": "https://pubmed.ncbi.nlm.nih.gov/9442100"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "X Huang, J W Peng, N A Speck, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Solution structure of core binding factor beta and map of the CBF alpha binding site."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Struct Biol (1999)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/10670"}], "href": "https://doi.org/10.1038/10670"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "10404216"}], "href": "https://pubmed.ncbi.nlm.nih.gov/10404216"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Judd F Hultquist, Rebecca M McDougle, Brett D Anderson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HIV type 1 viral infectivity factor and the RUNX transcription factors interact with core binding factor β on genetically distinct surfaces."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "AIDS Res Hum Retroviruses (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1089/AID.2012.0142"}], "href": "https://doi.org/10.1089/AID.2012.0142"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22725134"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22725134"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yong Feng, Yunfei Liao, Jianming Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcriptional activation of CBFβ by CDK11"}, {"type": "a", "children": [{"type": "t", "text": "sup"}], "href": "sup"}, {"type": "t", "text": "p110"}, {"type": "a", "children": [{"type": "t", "text": "/sup"}], "href": "/sup"}, {"type": "t", "text": " is necessary to promote osteosarcoma cell proliferation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Commun Signal (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12964-019-0440-5"}], "href": "https://doi.org/10.1186/s12964-019-0440-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31610798"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31610798"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Liping Guo, Bo Chen, Guochun Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The transcription factor CBFB mutations indicate an improved survival in HR+/HER2- breast cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2020.144970"}], "href": "https://doi.org/10.1016/j.gene.2020.144970"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32711101"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32711101"}]}]}]}
Synonyms	PEBP2B
Proteins	PEBB_HUMAN
NCBI Gene ID	865
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CBFB has 8,404 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 129 datasets.

Click the + buttons to view associations for CBFB from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CBFB Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by CBFB gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CBFB gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CBFB gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CBFB gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CBFB gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CBFB gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CBFB gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CBFB gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CBFB gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CBFB gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CBFB gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CBFB gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CBFB gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with CBFB gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CBFB protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CBFB gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CBFB gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CBFB gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing CBFB protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CBFB gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CBFB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CBFB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing CBFB protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CBFB protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CBFB protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing CBFB protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CBFB gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CBFB gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CBFB gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CBFB gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CBFB gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving CBFB gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CBFB gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CBFB gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CBFB gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CBFB gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CBFB gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CBFB gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CBFB gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CBFB gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.