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CBFB (subunit b of core binding factor)

Identity

Other namesCBFb
PEBP2b ( polyomavirus enhancer binding protein b)
HGNC (Hugo) CBFB
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.

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

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

Nomenclature
HGNC (Hugo)CBFB   1539
Cards
AtlasCBFbID45
Entrez_Gene (NCBI)CBFB  865  core-binding factor, beta subunit
GeneCards (Weizmann)CBFB
Ensembl (Hinxton)ENSG00000067955 [Gene_View]  chr16:67063050-67134958 [Contig_View]  CBFB [Vega]
ICGC DataPortalENSG00000067955
cBioPortalCBFB
AceView (NCBI)CBFB
Genatlas (Paris)CBFB
WikiGenes865
SOURCE (Princeton)NM_001755 NM_022845
Genomic and cartography
GoldenPath (UCSC)CBFB  -  16q22.1   chr16:67063050-67134958 +  16q22.1   [Description]    (hg19-Feb_2009)
EnsemblCBFB - 16q22.1 [CytoView]
Mapping of homologs : NCBICBFB [Mapview]
OMIM121360   
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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13951 (Uniprot)
NextProtQ13951  [Medical]
With graphics : InterProQ13951
Splice isoforms : SwissVarQ13951 (Swissvar)
Domains : Interpro (EBI)CBF_beta [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ13951
HPRD00418
IPIIPI00016746   IPI00024871   
Protein Interaction databases
DIP (DOE-UCLA)Q13951
IntAct (EBI)Q13951
FunCoupENSG00000067955
BioGRIDCBFB
InParanoidQ13951
Interologous Interaction database Q13951
IntegromeDBCBFB
STRING (EMBL)CBFB
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
Wikipedia pathwaysCBFB
Gene fusion - rearrangments
Rearrangement : TICdbCBFB [16q22.1]  -  MYH11 [8q12.1]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CBFB
snp3D : Map Gene to Disease865
SNP (GeneSNP Utah)CBFB
SNP : HGBaseCBFB
Genetic variants : HAPMAPCBFB
Exome VariantCBFB
1000_GenomesCBFB 
ICGC programENSG00000067955 
Cancer Gene: CensusCBFB 
Somatic Mutations in Cancer : COSMICCBFB 
CONAN: Copy Number AnalysisCBFB 
Mutations and Diseases : HGMDCBFB
Mutations and Diseases : intOGenCBFB
Genomic VariantsCBFB  CBFB [DGVbeta]
dbVarCBFB
ClinVarCBFB
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM121360   
MedgenCBFB
GENETestsCBFB
Disease Genetic AssociationCBFB
Huge Navigator CBFB [HugePedia]  CBFB [HugeCancerGEM]
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 databasehttp://cancergenome.broadinstitute.org/index.php?tgene=CBFB
Probes
ProbeCBFB (16q22) in normal cells (Bari)
Litterature
PubMed83 Pubmed reference(s) in Entrez
CoreMineCBFB
iHOPCBFB
OncoSearchCBFB

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, 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

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Contributor(s)

Written06-1999Jean-Loup Huret

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/CBFbID45.html

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indexed on : Tue Aug 26 15:24:30 CEST 2014

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