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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)

Identity

Other namesCBFb
PEBP2b ( polyomavirus enhancer binding protein b)
HGNC (Hugo) CBFB
LocusID (NCBI) 865
Atlas_Id 45
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 67063050 and ends at 67134958 bp from pter ( according to hg19-Feb_2009)  [Mapping CBFB.png]
 
  CBFB (16q22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)
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)

DNA/RNA

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

Protein

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

Note
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
  

Bibliography

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, Marín-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, Marín-Padilla M, Sharpe AH, Speck NA
Cell. 1996 ; 87 (4) : 697-708.
PMID 8929538
 

Citation

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 : http://AtlasGeneticsOncology.org/Genes/CBFbID45.html


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(3;16)(q21;q22)
t(4;21)(q31;q22) RUNX1/SH3D19
t(5;16)(q33;q22)
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) [ 0 ]
  Breast: Ductal carcinoma

External links

Nomenclature
HGNC (Hugo)CBFB   1539
Cards
AtlasCBFbID45
Entrez_Gene (NCBI)CBFB  865  core-binding factor, beta subunit
AliasesPEBP2B
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
TCGA cBioPortalCBFB
AceView (NCBI)CBFB
Genatlas (Paris)CBFB
WikiGenes865
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]
OMIM121360   
Gene and transcription
Genbank (Entrez)AA020956 AF294326 AK290462 AK291834 AK311084
RefSeq transcript (Entrez)NM_001755 NM_022845
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_009281 NT_010498 NW_004929402
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)865
GTEX Portal (Tissue expression)CBFB
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13951 (Uniprot)
NextProtQ13951  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13951
Splice isoforms : SwissVarQ13951 (Swissvar)
PhosPhoSitePlusQ13951
Domains : Interpro (EBI)CBF_beta   
Domain families : Pfam (Sanger)CBF_beta (PF02312)   
Domain families : Pfam (NCBI)pfam02312   
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   
SuperfamilyQ13951
Human Protein AtlasENSG00000067955
Peptide AtlasQ13951
HPRD00418
IPIIPI00016746   IPI00024871   
Protein Interaction databases
DIP (DOE-UCLA)Q13951
IntAct (EBI)Q13951
FunCoupENSG00000067955
BioGRIDCBFB
STRING (EMBL)CBFB
ZODIACCBFB
Ontologies - Pathways
QuickGOQ13951
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 Network
Atlas of Cancer Signalling NetworkCBFB
Wikipedia pathwaysCBFB
Orthology - Evolution
OrthoDB865
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: TCGACBFB 16q22.1 ATP13A3 3q29 HNSC
Fusion: TCGACBFB 16q22.1 CES4A 16q22.1 HNSC
Fusion : TICdbCBFB [16q22.1]  -  MYH11 [16p13.11]
Polymorphisms : SNP, variants
NCBI Variation ViewerCBFB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CBFB
dbVarCBFB
ClinVarCBFB
1000_GenomesCBFB 
Exome Variant ServerCBFB
ExAC (Exome Aggregation Consortium)CBFB (select the gene name)
Genetic variants : HAPMAP865
Genomic Variants (DGV)CBFB [DGVbeta]
Mutations
ICGC Data PortalCBFB 
TCGA Data PortalCBFB 
Broad Tumor PortalCBFB
OASIS PortalCBFB [ Somatic mutations - Copy number]
Cancer Gene: CensusCBFB 
Somatic Mutations in Cancer : COSMICCBFB 
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)
intoGenCBFB
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:67063050-67134958  ENSG00000067955
CONAN: Copy Number AnalysisCBFB 
Mutations and Diseases : HGMDCBFB
OMIM121360   
MedgenCBFB
Genetic Testing Registry CBFB
NextProtQ13951 [Medical]
TSGene865
GENETestsCBFB
Huge Navigator CBFB [HugePedia]
snp3D : Map Gene to Disease865
BioCentury BCIQCBFB
ClinGenCBFB (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD865
Chemical/Pharm GKB GenePA26114
Clinical trialCBFB
Miscellaneous
canSAR (ICR)CBFB (select the gene name)
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=CBFB
Probes
ProbeCBFB (16q22) in normal cells (Bari)
Litterature
PubMed101 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCBFB
EVEXCBFB
GoPubMedCBFB
iHOPCBFB
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jun 11 12:56:56 CEST 2016

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jlhuret@AtlasGeneticsOncology.org.