Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome
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Don't let the Atlas imminent demise
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CBFB (subunit b of core binding factor)


Other namesCBFb
PEBP2b ( polyomavirus enhancer binding protein b)
LocusID (NCBI) 865
Location 16q22.1
Location_base_pair Starts at 67063050 and ends at 67134958 bp from pter ( according to hg19-Feb_2009)  [Mapping]
  CBFB (16q22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.


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 (ANLL) or myelodysplastic syndromes (MDS) --> CBFb - MYH11
Disease nearly pathognomonic of M4eo-ANLL: with eosinophilia; frequent CNS involvement
Prognosis high CR rate; better prognosis than most other ANLL
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

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131 t1119ELLID1029 t0812q24q22ID2057
t0814ID1050 8p11inMPDID1091 inv8p11q13ID1189 PrimarCutanALCLID2118 t0708q34p11ID1409
t0809p12q33ID1129 t0811p11p15ID1200 t0811p12p15ID1521

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]  chr16:67063050-67134958 [Contig_View]  CBFB [Vega]
Ensembl hg38 (Hinxton)ENSG00000067955 [Gene_View]  chr16:67063050-67134958 [Contig_View]  CBFB [Vega]
ICGC DataPortalENSG00000067955
Genatlas (Paris)CBFB
SOURCE (Princeton)CBFB
Genomic and cartography
GoldenPath hg19 (UCSC)CBFB  -     chr16:67063050-67134958 +  16q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CBFB  -     16q22.1   [Description]    (hg38-Dec_2013)
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)AC_000148 NC_000016 NC_018927 NG_009281 NT_010498 NW_001838290 NW_004929402
Consensus coding sequences : CCDS (NCBI)CBFB
Cluster EST : UnigeneHs.460988 [ NCBI ]
CGAP (NCI)Hs.460988
Alternative Splicing : Fast-db (Paris)GSHG0011270
Alternative Splicing GalleryENSG00000067955
Gene ExpressionCBFB [ NCBI-GEO ]     CBFB [ SEEK ]   CBFB [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13951 (Uniprot)
NextProtQ13951  [Medical]
With graphics : InterProQ13951
Splice isoforms : SwissVarQ13951 (Swissvar)
Domains : Interpro (EBI)CBF_beta   
Related proteins : CluSTrQ13951
Domain families : Pfam (Sanger)CBF_beta (PF02312)   
Domain families : Pfam (NCBI)pfam02312   
DMDM Disease mutations865
Blocks (Seattle)Q13951
PDB (SRS)1CL3    1E50    1H9D    4N9F   
PDB (PDBSum)1CL3    1E50    1H9D    4N9F   
PDB (IMB)1CL3    1E50    1H9D    4N9F   
PDB (RSDB)1CL3    1E50    1H9D    4N9F   
Human Protein AtlasENSG00000067955
Peptide AtlasQ13951
IPIIPI00016746   IPI00024871   
Protein Interaction databases
IntAct (EBI)Q13951
Ontologies - Pathways
Ontology : AmiGOosteoblast differentiation  DNA binding  sequence-specific DNA binding transcription factor activity  transcription coactivator activity  protein binding  cellular_component  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-EBIosteoblast differentiation  DNA binding  sequence-specific DNA binding transcription factor activity  transcription coactivator activity  protein binding  cellular_component  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  
Protein Interaction DatabaseCBFB
DoCM (Curated mutations)CBFB
Wikipedia pathwaysCBFB
Gene fusion - rearrangements
Rearrangement : TICdbCBFB [16q22.1]  -  MYH11 [8q12.1]
Polymorphisms : SNP, variants
NCBI Variation ViewerCBFB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CBFB
Exome Variant ServerCBFB
Genetic variants : HAPMAPCBFB
Genomic Variants (DGV)CBFB [DGVbeta]
ICGC Data PortalENSG00000067955 
Cancer Gene: CensusCBFB 
Somatic Mutations in Cancer : COSMICCBFB 
CONAN: Copy Number AnalysisCBFB 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)16:67063050-67134958
Mutations and Diseases : HGMDCBFB
NextProtQ13951 [Medical]
Disease Genetic AssociationCBFB
Huge Navigator CBFB [HugePedia]  CBFB [HugeCancerGEM]
snp3D : Map Gene to Disease865
DGIdb (Drug Gene Interaction db)CBFB
General knowledge
Homologs : HomoloGeneCBFB
Homology/Alignments : Family Browser (UCSC)CBFB
Phylogenetic Trees/Animal Genes : TreeFamCBFB
Chemical/Protein Interactions : CTD865
Chemical/Pharm GKB GenePA26114
Clinical trialCBFB
Cancer Resource (Charite)ENSG00000067955
Other databases
Other database
ProbeCBFB (16q22) in normal cells (Bari)
PubMed83 Pubmed reference(s) in Entrez


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
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
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, Marˆ‚n-Padilla M, Collins FS, Wynshaw-Boris A, Liu PP
Cell. 1996 ; 87 (4) : 687-696.
PMID 8929537
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
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, Marˆ‚n-Padilla M, Sharpe AH, Speck NA
Cell. 1996 ; 87 (4) : 697-708.
PMID 8929538
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI


Written06-1999Jean-Loup Huret


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 ]

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indexed on : Tue Feb 17 20:05:55 CET 2015

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