Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CBFB (subunit b of core binding factor)

Written1999-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


Alias_namescore-binding factor
Alias_symbol (synonym)PEBP2B
Other aliasCBFb
PEBP2b ( polyomavirus enhancer binding protein b)
LocusID (NCBI) 865
Atlas_Id 45
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 67029147 and ends at 67101055 bp from pter ( according to hg19-Feb_2009)  [Mapping CBFB.png]
  CBFB (16q22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ABL1 (9q34.12) / CBFB (16q22.1)C16orf70 (16q22.1) / CBFB (16q22.1)CBFB (16q22.1) / ATP13A3 (3q29)
CBFB (16q22.1) / CBFB (16q22.1)CBFB (16q22.1) / CES4A (16q22.1)CBFB (16q22.1) / FUK (16q22.1)
CBFB (16q22.1) / HNRNPA2B1 (7p15.2)CBFB (16q22.1) / MRPL42 (12q22)CBFB (16q22.1) / MUTYH (1p34.1)
CBFB (16q22.1) / MYH11 (16p13.11)CBFB (16q22.1) / NAE1 (16q22.1)CBFB (16q22.1) / NDE1 (16p13.11)
MYH11 (16p13.11) / CBFB (16q22.1)


Description 6 exons; 50 kb
Transcription alternate splicing at cDNA positions 495 (in exon 5) and 526


Description 2 alternative forms of 182 and 187 amino acids with the first 165 N-term identical amino acids and different C-term; 22 kDa
Expression wide
Localisation cytoplasmic when not dimerized
Function CBF is a heterodimer comprising the subunit b (CBFb) and the subunit CBFa (3 CBFa genes are known, of which is CBFa2, also called AML1, involved in the well known t(8;21), t(12;21), and in other leukaemias); CBF binds to a core motif of the DNA (herein the name); CBFb by itself does not contain any known DNA binding motif or any transcriptional activation domain; CBFa binds to DNA; CBFb increases CBFa's affinity to DNA by 5 to 10 fold; CBF is a transcription factor which regulates the expression of myeloid and T-cell specific genes such as: GM-CSF, M-CSFR, IL3, T- Cell receptors TCRA-D, TCRB and TCRG; CBF cooperate with various tissue specific factors to activate these lineage-restricted transcriptions; homozygous knock down of either CBFb or CBFa results in embryonic lethality, showing that they are essential for fetal liver hematopoiesis
Homology highly conserved through the species

Implicated in

Entity inv(16)(p13q22), t(16;16)(p13;q22), and del(16)(q22) in acute non lymphoblastic leukaemia (AML) or myelodysplastic syndromes (MDS) --> CBFB - MYH11
Disease nearly pathognomonic of M4eo-AML: with eosinophilia; frequent CNS involvement
Prognosis high CR rate; better prognosis than most other AML
Cytogenetics the 3 chromosome anomalies are variants of each other
Hybrid/Mutated Gene 5' CBFb - 3' MYH11
Abnormal Protein the N-trem and most of CBFb is fused to the MYH11 C-term with its multimerization domain


Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11.
Castilla LH, Wijmenga C, Wang Q, Stacy T, Speck NA, Eckhaus M, Marín-Padilla M, Collins FS, Wynshaw-Boris A, Liu PP
Cell. 1996 ; 87 (4) : 687-696.
PMID 8929537
Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia.
Liu P, Claxton DF, Marlton P, Hajra A, Siciliano J, Freedman M, Chandrasekharappa SC, Yanagisawa K, Stallings RL, Collins FS
Blood. 1993 ; 82 (3) : 716-721.
PMID 8338941
Molecular cloning and characterization of PEBP2 beta, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2 alpha.
Ogawa E, Inuzuka M, Maruyama M, Satake M, Naito-Fujimoto M, Ito Y, Shigesada K
Virology. 1993 ; 194 (1) : 314-331.
PMID 8386878
PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene.
Ogawa E, Maruyama M, Kagoshima H, Inuzuka M, Lu J, Satake M, Shigesada K, Ito Y
Proceedings of the National Academy of Sciences of the United States of America. 1993 ; 90 (14) : 6859-6863.
PMID 8341710
The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo.
Wang Q, Stacy T, Miller JD, Lewis AF, Gu TL, Huang X, Bushweller JH, Bories JC, Alt FW, Ryan G, Liu PP, Wynshaw-Boris A, Binder M, Marín-Padilla M, Sharpe AH, Speck NA
Cell. 1996 ; 87 (4) : 697-708.
PMID 8929538
Cloning and characterization of subunits of the T-cell receptor and murine leukemia virus enhancer core-binding factor.
Wang S, Wang Q, Crute BE, Melnikova IN, Keller SR, Speck NA
Molecular and cellular biology. 1993 ; 13 (6) : 3324-3339.
PMID 8497254
Acute myelogenous leukemia: a disorder of gene splicing?
van der Reijden BA, van Ommen GJ, Hagemeijer A, Breuning MH
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (2) : 204-206.
PMID 8637227


This paper should be referenced as such :
Huret, JL
CBFb (subunit b of core binding factor)
Atlas Genet Cytogenet Oncol Haematol. 1999;3(3):124-125.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 13 ]
  Classification of acute myeloid leukemias
inv(16)(p13q22) CBFB/MYH11::t(16;16)(p13;q22) CBFB/MYH11::del(16)(q22) CBFB/MYH11
inv(16)(p13q22) CBFB/MYH11 in treatment related leukemia
t(1;21)(p35;q22) RUNX1/YTHDF2
t(1;21)(q21;q22) RUNX1/ZNF687
t(4;21)(q31;q22) RUNX1/SH3D19
t(7;21)(p22;q22) RUNX1/USP42
t(8;21)(q22;q22) RUNX1/RUNX1T1
t(8;21)(q23;q22) RUNX1/ZFPM2
t(20;21)(q13.2;q22.12) ZFP64/RUNX1
+22 or trisomy 22 (solely?)

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Breast: Ductal carcinoma

External links

HGNC (Hugo)CBFB   1539
Entrez_Gene (NCBI)CBFB  865  core-binding factor beta subunit
GeneCards (Weizmann)CBFB
Ensembl hg19 (Hinxton)ENSG00000067955 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000067955 [Gene_View]  chr16:67029147-67101055 [Contig_View]  CBFB [Vega]
ICGC DataPortalENSG00000067955
Genatlas (Paris)CBFB
SOURCE (Princeton)CBFB
Genetics Home Reference (NIH)CBFB
Genomic and cartography
GoldenPath hg38 (UCSC)CBFB  -     chr16:67029147-67101055 +  16q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CBFB  -     16q22.1   [Description]    (hg19-Feb_2009)
EnsemblCBFB - 16q22.1 [CytoView hg19]  CBFB - 16q22.1 [CytoView hg38]
Mapping of homologs : NCBICBFB [Mapview hg19]  CBFB [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA020956 AF294326 AK290462 AK291834 AK311084
RefSeq transcript (Entrez)NM_001755 NM_022845
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CBFB
Cluster EST : UnigeneHs.460988 [ NCBI ]
CGAP (NCI)Hs.460988
Alternative Splicing GalleryENSG00000067955
Gene ExpressionCBFB [ NCBI-GEO ]   CBFB [ EBI - ARRAY_EXPRESS ]   CBFB [ SEEK ]   CBFB [ MEM ]
Gene Expression Viewer (FireBrowse)CBFB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)865
GTEX Portal (Tissue expression)CBFB
Human Protein AtlasENSG00000067955-CBFB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13951   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13951  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13951
Splice isoforms : SwissVarQ13951
Domains : Interpro (EBI)CBF_beta   
Domain families : Pfam (Sanger)CBF_beta (PF02312)   
Domain families : Pfam (NCBI)pfam02312   
Conserved Domain (NCBI)CBFB
DMDM Disease mutations865
Blocks (Seattle)CBFB
PDB (SRS)1CL3    1E50    1H9D    4N9F   
PDB (PDBSum)1CL3    1E50    1H9D    4N9F   
PDB (IMB)1CL3    1E50    1H9D    4N9F   
PDB (RSDB)1CL3    1E50    1H9D    4N9F   
Structural Biology KnowledgeBase1CL3    1E50    1H9D    4N9F   
SCOP (Structural Classification of Proteins)1CL3    1E50    1H9D    4N9F   
CATH (Classification of proteins structures)1CL3    1E50    1H9D    4N9F   
Human Protein Atlas [tissue]ENSG00000067955-CBFB [tissue]
Peptide AtlasQ13951
IPIIPI00016746   IPI00024871   
Protein Interaction databases
IntAct (EBI)Q13951
Ontologies - Pathways
Ontology : AmiGOprotein polyubiquitination  osteoblast differentiation  DNA binding  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  protein binding  nucleus  transcription from RNA polymerase II promoter  membrane  lymphocyte differentiation  myeloid cell differentiation  positive regulation of transcription from RNA polymerase II promoter  cell maturation  definitive hemopoiesis  
Ontology : EGO-EBIprotein polyubiquitination  osteoblast differentiation  DNA binding  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  protein binding  nucleus  transcription from RNA polymerase II promoter  membrane  lymphocyte differentiation  myeloid cell differentiation  positive regulation of transcription from RNA polymerase II promoter  cell maturation  definitive hemopoiesis  
NDEx NetworkCBFB
Atlas of Cancer Signalling NetworkCBFB
Wikipedia pathwaysCBFB
Orthology - Evolution
GeneTree (enSembl)ENSG00000067955
Phylogenetic Trees/Animal Genes : TreeFamCBFB
Homologs : HomoloGeneCBFB
Homology/Alignments : Family Browser (UCSC)CBFB
Gene fusions - Rearrangements
Fusion : MitelmanCBFB/ATP13A3 [16q22.1/3q29]  
Fusion : MitelmanCBFB/CES4A [16q22.1/16q22.1]  [t(16;16)(q22;q22)]  
Fusion : MitelmanCBFB/MYH11 [16q22.1/16p13.11]  [ins(16)(q22p13p13)]  [ins(16;16)(q22;p13p13)]  
[inv(16)(p13q22)]  [t(16;16)(p13;q22)]  
Fusion: TCGA_MDACCCBFB 16q22.1 ATP13A3 3q29 HNSC
Fusion: TCGA_MDACCCBFB 16q22.1 CES4A 16q22.1 HNSC
Tumor Fusion PortalCBFB
Fusion : TICdbCBFB [16q22.1]  -  MYH11 [16p13.11]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCBFB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CBFB
Exome Variant ServerCBFB
ExAC (Exome Aggregation Consortium)ENSG00000067955
GNOMAD BrowserENSG00000067955
Genetic variants : HAPMAP865
Genomic Variants (DGV)CBFB [DGVbeta]
DECIPHERCBFB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCBFB 
ICGC Data PortalCBFB 
TCGA Data PortalCBFB 
Broad Tumor PortalCBFB
OASIS PortalCBFB [ Somatic mutations - Copy number]
Cancer Gene: CensusCBFB 
Somatic Mutations in Cancer : COSMICCBFB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCBFB
intOGen PortalCBFB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CBFB
DgiDB (Drug Gene Interaction Database)CBFB
DoCM (Curated mutations)CBFB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CBFB (select a term)
NCG5 (London)CBFB
Cancer3DCBFB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry CBFB
NextProtQ13951 [Medical]
Target ValidationCBFB
Huge Navigator CBFB [HugePedia]
snp3D : Map Gene to Disease865
ClinGenCBFB (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD865
Chemical/Pharm GKB GenePA26114
Clinical trialCBFB
canSAR (ICR)CBFB (select the gene name)
Other database
PubMed106 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Nov 21 14:46:04 CET 2017

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