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 su... See more...

Aliases for CBFB Gene

Aliases for CBFB Gene

  • Core-Binding Factor Subunit Beta 2 3 4 5
  • SL3/AKV Core-Binding Factor Beta Subunit 3 4
  • SL3-3 Enhancer Factor 1 Subunit Beta 3 4
  • Core-Binding Factor Beta Subunit 2 3
  • PEBP2-Beta 3 4
  • PEA2-Beta 3 4
  • CBF-Beta 3 4
  • PEBP2B 2 3
  • Polyomavirus Enhancer Binding Protein 2, Beta Subunit 3
  • Polyomavirus Enhancer-Binding Protein 2 Beta Subunit 4
  • SL3-3 Enhancer Factor 1 Beta Subunit 3
  • Core-Binding Factor, Beta Subunit 2
  • CBFB 5

External Ids for CBFB Gene

Previous GeneCards Identifiers for CBFB Gene

  • GC16P057757
  • GC16P067440
  • GC16P066798
  • GC16P066839
  • GC16P065620
  • GC16P052937

Summaries for CBFB Gene

Entrez Gene Summary for CBFB Gene

  • 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]

CIViC Summary for CBFB Gene

  • CBFB has been shown to be mutated in estrogen receptor positive breast cancer, although the significance of many of these mutations is yet to be determined. The CBFB-MYH11 fusion is a commonly accepted marker of favorable prognosis in acute myeloid leukemia.

GeneCards Summary for CBFB Gene

CBFB (Core-Binding Factor Subunit Beta) is a Protein Coding gene. Diseases associated with CBFB include Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16;16)(P13;Q22) and Leukemia, Acute Myeloid. Among its related pathways are Dual hijack model of Vif in HIV infection and Regulation of nuclear SMAD2/3 signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription coactivator activity.

UniProtKB/Swiss-Prot Summary for CBFB Gene

  • Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation.

Gene Wiki entry for CBFB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CBFB Gene

Genomics for CBFB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CBFB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J067027 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.7 710 3.4 GATAD2A HNRNPL PRDM10 ZNF629 REST TFE3 LEF1 SOX13 NFKBIZ ZNF692 CBFB lnc-FAM96B-4 CTCF EDC4 ENSG00000260465 E2F4 ACD CENPT FBXL8 ENSG00000270165
GH16J066879 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.5 -148.2 -148183 2.8 SP1 HNRNPL PRDM10 REST TFE3 LEF1 IKZF1 NFKBIZ POLR2A ZNF692 PDP2 lnc-PDP2-3 CES2 B3GNT9 CTCF ENSG00000260465 CDH16 RRAD NAE1 ZDHHC1
GH16J066960 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 11.3 -67.8 -67774 1.2 HNRNPL GATAD2A CTCF TEAD4 PRDM10 REST ZNF512 ZNF692 MTA2 ZNF143 CES3 FBXL8 TRADD HSF4 CES2 RRAD CDH16 CIAO2B B3GNT9 CBFB
GH16J066977 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.3 -50.4 -50404 2 GATAD2A CTCF TFE3 IKZF1 NFKBIZ ZNF692 RCOR2 JUND LARP7 ZNF143 CES2 ELMO3 CBFB B3GNT9 FBXL8 TRADD HSF4 C16orf70 RRAD CDH16
GH16J067052 Enhancer 1 Ensembl ENCODE 12.5 +25.9 25917 5.8 JUND PKNOX1 DPF2 HDAC1 SOX6 EP300 SCRT2 EED MTA3 CEBPB ELMO3 CBFB C16orf70 MIR328 ATP6V0D1 ENSG00000260465 ENKD1 RF00017-2107 lnc-FAM96B-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CBFB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CBFB

Top Transcription factor binding sites by QIAGEN in the CBFB gene promoter:
  • E47
  • ER-alpha
  • GATA-1
  • Tal-1beta
  • YY1

Genomic Locations for CBFB Gene

Genomic Locations for CBFB Gene
chr16:67,028,984-67,101,058
(GRCh38/hg38)
Size:
72,075 bases
Orientation:
Plus strand
chr16:67,063,019-67,134,961
(GRCh37/hg19)
Size:
71,943 bases
Orientation:
Plus strand

Genomic View for CBFB Gene

Genes around CBFB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBFB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBFB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBFB Gene

Proteins for CBFB Gene

  • Protein details for CBFB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13951-PEBB_HUMAN
    Recommended name:
    Core-binding factor subunit beta
    Protein Accession:
    Q13951
    Secondary Accessions:
    • A8K347
    • Q13124
    • Q9HCT2

    Protein attributes for CBFB Gene

    Size:
    182 amino acids
    Molecular mass:
    21508 Da
    Quaternary structure:
    • Heterodimer with RUNX1, RUNX2 and RUNX3. Interacts with COPRS. Found in a complex with PRMT5 and RUNX1.

    Three dimensional structures from OCA and Proteopedia for CBFB Gene

    Alternative splice isoforms for CBFB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CBFB Gene

Post-translational modifications for CBFB Gene

  • Ubiquitination at Lys11 and Lys28
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CBFB Gene

Domains & Families for CBFB Gene

Gene Families for CBFB Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CBFB Gene

InterPro:
Blocks:
  • Core binding factor, beta subunit
ProtoNet:

Suggested Antigen Peptide Sequences for CBFB Gene

GenScript: Design optimal peptide antigens:
  • SL3/AKV core-binding factor beta subunit (PEBB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13951

UniProtKB/Swiss-Prot:

PEBB_HUMAN :
  • Belongs to the CBF-beta family.
Family:
  • Belongs to the CBF-beta family.
genes like me logo Genes that share domains with CBFB: view

Function for CBFB Gene

Molecular function for CBFB Gene

UniProtKB/Swiss-Prot Function:
Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation.
GENATLAS Biochemistry:
core binding factor to the enhancer of T cell receptor genes,beta subunit,altered in acute myeloid leukemia (AML-M4Eo) with inversion inv(16)(p13;q22) or t(16;16)(p13;q22) translocation

Phenotypes From GWAS Catalog for CBFB Gene

Gene Ontology (GO) - Molecular Function for CBFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA,IBA 21873635
GO:0003700 DNA-binding transcription factor activity TAS 8351518
GO:0003712 transcription coregulator activity IBA 21873635
GO:0003713 transcription coactivator activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with CBFB: view
genes like me logo Genes that share phenotypes with CBFB: view

Human Phenotype Ontology for CBFB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CBFB Gene

MGI Knock Outs for CBFB:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBFB

Clone Products

  • Addgene plasmids for CBFB

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CBFB Gene

Localization for CBFB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBFB Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBFB gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CBFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane HDA 19946888
GO:0016513 core-binding factor complex IBA,TAS 18258917
genes like me logo Genes that share ontologies with CBFB: view

Pathways & Interactions for CBFB Gene

genes like me logo Genes that share pathways with CBFB: view

SIGNOR curated interactions for CBFB Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CBFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,ISS --
GO:0000209 protein polyubiquitination IMP 22190036
GO:0001503 ossification IEA --
GO:0001649 osteoblast differentiation IEA --
GO:0001959 regulation of cytokine-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with CBFB: view

Drugs & Compounds for CBFB Gene

No Compound Related Data Available

Transcripts for CBFB Gene

mRNA/cDNA for CBFB Gene

6 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBFB

Clone Products

  • Addgene plasmids for CBFB

Alternative Splicing Database (ASD) splice patterns (SP) for CBFB Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for CBFB Gene

GeneLoc Exon Structure for
CBFB

Expression for CBFB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CBFB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CBFB Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.4), Tlymphocyte (9.1), Cervix (6.9), and CD8 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CBFB Gene



Protein tissue co-expression partners for CBFB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CBFB

SOURCE GeneReport for Unigene cluster for CBFB Gene:

Hs.460988

Evidence on tissue expression from TISSUES for CBFB Gene

  • Nervous system(4.3)
  • Eye(4.1)
  • Bone marrow(2.2)
  • Intestine(2.1)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CBFB Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
  • lymphatic
Regions:
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with CBFB: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CBFB Gene

Orthologs for CBFB Gene

This gene was present in the common ancestor of animals.

Orthologs for CBFB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CBFB 31
  • 99 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CBFB 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CBFB 30 31
  • 97.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CBFB 30 31
  • 95.49 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cbfb 30 17 31
  • 93.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cbfb 30
  • 92.35 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 73 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CBFB 30 31
  • 88.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CBFB 31
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cbfb 30
  • 78.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6721 30
Zebrafish
(Danio rerio)
Actinopterygii cbfb 30 31
  • 76.11 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000317 30
  • 57.46 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Bgb 30 31 32
  • 57.2 (n)
OneToMany
Bro 31
  • 40 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1961 30
Species where no ortholog for CBFB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CBFB Gene

ENSEMBL:
Gene Tree for CBFB (if available)
TreeFam:
Gene Tree for CBFB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CBFB: view image

Paralogs for CBFB Gene

No data available for Paralogs for CBFB Gene

Variants for CBFB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CBFB Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs1280921900 A breast cancer sample p.Pro100Ala

Additional dbSNP identifiers (rs#s) for CBFB Gene

Structural Variations from Database of Genomic Variants (DGV) for CBFB Gene

Variant ID Type Subtype PubMed ID
dgv526e214 CNV gain 21293372
esv2677554 CNV deletion 23128226
esv3638876 CNV loss 21293372
esv3638877 CNV loss 21293372
esv988966 CNV insertion 20482838
nsv1056738 CNV loss 25217958
nsv1143825 CNV deletion 24896259
nsv1840 CNV insertion 18451855
nsv473276 CNV novel sequence insertion 20440878
nsv509626 CNV insertion 20534489
nsv509627 CNV insertion 20534489
nsv516064 CNV gain 19592680

Variation tolerance for CBFB Gene

Residual Variation Intolerance Score: 46.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CBFB Gene

Human Gene Mutation Database (HGMD)
CBFB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBFB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBFB Gene

Disorders for CBFB Gene

MalaCards: The human disease database

(13) MalaCards diseases for CBFB Gene - From: OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CBFB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEBB_HUMAN
  • Note=A chromosomal aberration involving CBFB is associated with acute myeloid leukemia of M4EO subtype. Pericentric inversion inv(16)(p13;q22). The inversion produces a fusion protein that consists of the 165 N-terminal residues of CBF-beta (PEPB2) with the tail region of MYH11. {ECO:0000269 PubMed:8351518}.

Additional Disease Information for CBFB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CBFB: view

No data available for Genatlas for CBFB Gene

Publications for CBFB Gene

  1. Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta. (PMID: 10856244) Warren AJ … Rabbitts TH (The EMBO journal 2000) 3 4 23
  2. Structure of the leukemia-associated human CBFB gene. (PMID: 7607682) Hajra A … Collins FS (Genomics 1995) 4 23 41
  3. Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. (PMID: 8351518) Liu P … Collins FS (Science (New York, N.Y.) 1993) 2 3 4
  4. The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta. (PMID: 20225274) Han MS … Choi JY (Journal of cellular biochemistry 2010) 3 23
  5. Proleukemic RUNX1 and CBFbeta mutations in the pathogenesis of acute leukemia. (PMID: 20306249) Engel ME … Hiebert SW (Cancer treatment and research 2010) 3 23

Products for CBFB Gene

Sources for CBFB Gene