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Aliases for CBFB Gene

Aliases for CBFB Gene

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

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 Beta Subunit) 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 Cleidocranial Dysplasia. 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 for CBFB Gene

  • CBF binds to the core site, 5-PYGPYGGT-3, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBFB enhances DNA binding by RUNX1.

Gene Wiki entry for CBFB Gene

Additional gene information for CBFB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBFB Gene

Genomics for CBFB Gene

GeneHancer (GH) Regulatory Elements for CBFB Gene

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
GH16I067027 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.4 375 3 HDGF FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 CBFB ENSG00000260465 E2F4 CTCF FBXL8 ENSG00000270165 C16orf70 EDC4 B3GNT9 RANBP10
GH16I066879 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.5 -148.3 -148344 2 PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 PDP2 CES2 EDC4 CTCF ENSG00000260465 CDH16 RRAD NAE1 ZDHHC1 FAM96B
GH16I066960 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 11.3 -68.0 -67996 1 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 ZNF48 ZNF143 ATF7 DEK CES3 FBXL8 TRADD HSF4 CES2 RRAD CDH16 FAM96B B3GNT9 CBFB
GH16I066977 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.3 -51.3 -51315 0.4 HDGF ARID4B SIN3A ZNF2 IRF4 ZNF48 SLC30A9 GLIS2 ZNF213 ARID2 CES2 ELMO3 CBFB B3GNT9 FBXL8 TRADD HSF4 C16orf70 RRAD CDH16
GH16I067052 Enhancer 0.8 Ensembl ENCODE 12.5 +24.6 24553 2.2 HDAC1 HDGF MNT YBX1 ATF2 ZBTB40 GATA3 ZNF316 EMSY MAFK ELMO3 CBFB C16orf70 MIR328 ATP6V0D1 ENSG00000260465 GC16P067102
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CBFB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CBFB gene promoter:

Genomic Locations for CBFB Gene

Genomic Locations for CBFB Gene
chr16:67,029,116-67,101,058
(GRCh38/hg38)
Size:
71,943 bases
Orientation:
Plus strand
chr16:67,063,019-67,134,961
(GRCh37/hg19)

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. Interacts with COPRS (By similarity). Found in a complex with PRMT5, RUNX1 and CBFB (By similarity).

    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, posLast=2828, and posLast=185185

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CBFB (CBFB)
  • Abcam antibodies for CBFB

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

Suggested Antigen Peptide Sequences for CBFB Gene

GenScript: Design optimal peptide antigens:

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

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
UniProtKB/Swiss-Prot Function:
CBF binds to the core site, 5-PYGPYGGT-3, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBFB enhances DNA binding by RUNX1.

Phenotypes From GWAS Catalog for CBFB Gene

Gene Ontology (GO) - Molecular Function for CBFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity TAS 8351518
GO:0003713 transcription coactivator activity IEA --
GO:0005515 protein binding IPI 2845103
genes like me logo Genes that share ontologies with CBFB: view
genes like me logo Genes that share phenotypes with CBFB: view

Animal Models for CBFB Gene

MGI Knock Outs for CBFB:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (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 --
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane IDA,HDA 19946888
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

Gene Ontology (GO) - Biological Process for CBFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IMP 22190036
GO:0001503 ossification IEA --
GO:0001649 osteoblast differentiation IEA --
GO:0001959 regulation of cytokine-mediated signaling pathway TAS --
GO:0006366 transcription by RNA polymerase II TAS 8351518
genes like me logo Genes that share ontologies with CBFB: view

No data available for SIGNOR curated interactions for CBFB Gene

Drugs & Compounds for CBFB Gene

No Compound Related Data Available

Transcripts for CBFB Gene

Unigene Clusters for CBFB Gene

Core-binding factor, beta subunit:
Representative Sequences:

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
CBFB

Expression for CBFB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CBFB Gene



Protein tissue co-expression partners for CBFB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CBFB Gene:

CBFB

SOURCE GeneReport for Unigene cluster for CBFB Gene:

Hs.460988

Evidence on tissue expression from TISSUES for CBFB Gene

  • Nervous system(4.2)
  • Eye(4.1)

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
oppossum
(Monodelphis domestica)
Mammalia CBFB 34
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CBFB 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBFB 33 34
  • 97.41 (n)
cow
(Bos Taurus)
Mammalia CBFB 33 34
  • 95.49 (n)
mouse
(Mus musculus)
Mammalia Cbfb 33 16 34
  • 93.94 (n)
rat
(Rattus norvegicus)
Mammalia Cbfb 33
  • 92.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves CBFB 33 34
  • 88.24 (n)
lizard
(Anolis carolinensis)
Reptilia CBFB 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbfb 33
  • 78.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6721 33
zebrafish
(Danio rerio)
Actinopterygii cbfb 33 34
  • 76.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000317 33
  • 57.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta Bgb 35 33 34
  • 57.2 (n)
Bro 34
  • 40 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1961 33
Species where no ortholog for CBFB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CBFB Gene

No data available for Paralogs for CBFB Gene

Variants for CBFB Gene

Sequence variations from dbSNP and Humsavar for CBFB Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
VAR_036226 A breast cancer sample p.Pro100Ala
rs1000097241 -- 67,055,029(+) A/G intron_variant
rs1000107266 -- 67,096,785(+) T/C intron_variant
rs1000149531 -- 67,054,839(+) G/A intron_variant
rs1000215572 -- 67,070,857(+) A/G intron_variant

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

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

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

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

Disorders for CBFB Gene

MalaCards: The human disease database

(8) MalaCards diseases for CBFB Gene - From: HGMD, OMIM, 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
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 22 58
  2. Structure of the leukemia-associated human CBFB gene. (PMID: 7607682) Hajra A … Collins FS (Genomics 1995) 4 22 44 58
  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 58
  4. Proleukemic RUNX1 and CBFbeta mutations in the pathogenesis of acute leukemia. (PMID: 20306249) Engel ME … Hiebert SW (Cancer treatment and research 2010) 3 22 58
  5. The core binding factor CBF negatively regulates skeletal muscle terminal differentiation. (PMID: 20195544) Philipot O … Ait-Si-Ali S (PloS one 2010) 3 22 58

Products for CBFB Gene

  • Addgene plasmids for CBFB

Sources for CBFB Gene

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