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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 Leukemia, Acute Myeloid. Among its related pathways are ATF-2 transcription factor network and Dual hijack model of Vif in HIV infection. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

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

Genomics for CBFB Gene

Regulatory Elements for CBFB Gene

Enhancers for CBFB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G066977 1.5 Ensembl ENCODE dbSUPER 11.3 -51.3 -51316 0.4 HDGF WRNIP1 ARID4B SIN3A ZNF2 ZNF48 SLC30A9 GLIS2 ZNF143 DEK CES2 ELMO3 CBFB B3GNT9 FBXL8 TRADD HSF4 C16orf70 RRAD CDH16
GH16G066960 1.2 Ensembl ENCODE 11.3 -68.0 -67996 1.0 HDGF PKNOX1 ARNT SIN3A ARID4B ZNF2 ZNF48 ZNF143 DEK MIER2 TRADD FBXL8 HSF4 CES2 RRAD CDH16 FAM96B B3GNT9 CBFB ELMO3
GH16G067052 0.9 Ensembl ENCODE 12.5 +24.6 24553 2.2 HDAC1 HDGF YBX1 MNT ZBTB40 ATF2 ZNF121 PRDM6 GATA3 ZNF316 ELMO3 CBFB C16orf70 MIR328 ATP6V0D1 ENSG00000260465 GC16P067102
GH16G066879 1.1 ENCODE 9.5 -148.3 -148344 2.0 PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF416 CES2 ENSG00000260465 CDH16 RRAD ZDHHC1 FAM96B CENPT CA7 B3GNT9 THAP11
GH16G067013 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.4 -14.9 -14932 2.2 ATF1 ARNT CREB3L1 AGO1 SIN3A ZNF121 GLIS2 ZNF416 ZNF207 SP3 ACD CENPT THAP11 CBFB ATP6V0D1 RIPOR1 CES4A FBXL8 ENSG00000280334 GC16P067020
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CBFB on UCSC Golden Path with GeneCards custom track

Promoters for CBFB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087051 484 2001 HDGF MLX CREB3L1 ARNT AGO1 ZFP64 WRNIP1 ARID4B SIN3A ZNF2

Genomic Location for CBFB Gene

Chromosome:
16
Start:
67,029,116 bp from pter
End:
67,101,058 bp from pter
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. 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 posLast=1111, posLast=2828, and Lys185
  • Modification sites at PhosphoSitePlus

Antibody Products

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

No data available for DME Specific Peptides for CBFB Gene

Domains & Families for CBFB Gene

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

No data available for Gene Families for CBFB Gene

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.

Gene Ontology (GO) - Molecular Function for CBFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding 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

Clone Products

  • Addgene plasmids for CBFB

Flow Cytometry 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

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 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:0006366 transcription from RNA polymerase II promoter TAS 8351518
GO:0030098 lymphocyte differentiation IEA --
genes like me logo Genes that share ontologies with CBFB: view

No data available for SIGNOR curated interactions for CBFB Gene

Transcripts for CBFB Gene

Unigene Clusters for CBFB Gene

Core-binding factor, beta subunit:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CBFB

Flow Cytometry 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
Organs:
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with CBFB: view

Primer Products

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 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CBFB 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBFB 34 35
  • 97.41 (n)
cow
(Bos Taurus)
Mammalia CBFB 34 35
  • 95.49 (n)
mouse
(Mus musculus)
Mammalia Cbfb 34 16 35
  • 93.94 (n)
rat
(Rattus norvegicus)
Mammalia Cbfb 34
  • 92.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 76 (a)
OneToMany
-- 35
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves CBFB 34 35
  • 88.24 (n)
lizard
(Anolis carolinensis)
Reptilia CBFB 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbfb 34
  • 78.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6721 34
zebrafish
(Danio rerio)
Actinopterygii cbfb 34 35
  • 76.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000317 34
  • 57.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta Bgb 36 34 35
  • 57.2 (n)
Bro 35
  • 40 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1961 34
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 Sequence Context AA Info Type
VAR_036226 A breast cancer sample
rs1000097241 -- 67,055,029(+) TGTTT(A/G)TCGGG intron-variant
rs1000107266 -- 67,096,785(+) CTGGC(C/T)AACAC intron-variant
rs1000149531 -- 67,054,839(+) GCTCC(A/G)CCTCC intron-variant
rs1000215572 -- 67,070,857(+) TCTCA(A/G)AAACA intron-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
  • acute myelomonocytic leukemia
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
cleidocranial dysplasia
  • cleidocranial dysplasia, forme fruste, with brachydactyly
myeloid leukemia
  • leukemia myelogenous
core binding factor acute myeloid leukemia
  • cbf acute myeloid leukemia
- 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}.

Relevant External Links for CBFB

Genetic Association Database (GAD)
CBFB
Human Genome Epidemiology (HuGE) Navigator
CBFB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBFB
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 A.J. … Rabbitts T.H. (EMBO J. 2000) 3 4 22 64
  2. Structure of the leukemia-associated human CBFB gene. (PMID: 7607682) Hajra A. … Collins F.S. (Genomics 1995) 4 22 46 64
  3. Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. (PMID: 8351518) Liu P. … Collins F.S. (Science 1993) 2 3 4 64
  4. The core binding factor CBF negatively regulates skeletal muscle terminal differentiation. (PMID: 20195544) Philipot O. … Ait-Si-Ali S. (PLoS ONE 2010) 3 22 64
  5. The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta. (PMID: 20225274) Han M.S. … Choi J.Y. (J. Cell. Biochem. 2010) 3 22 64

Products for CBFB Gene

Sources for CBFB Gene

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