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Aliases for CBFB Gene

Aliases for CBFB Gene

  • Core-Binding Factor, Beta Subunit 2 3 5
  • Polyomavirus Enhancer-Binding Protein 2 Beta Subunit 3 4
  • 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
  • SL3-3 Enhancer Factor 1 Beta Subunit 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]

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 Regulation of nuclear SMAD2/3 signaling and ATF-2 transcription factor network. 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around CBFB on UCSC Golden Path with GeneCards custom track

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

Proteomics data for CBFB Gene at MOPED

Post-translational modifications for CBFB Gene

  • Ubiquitination at Lys 11, Lys 28, and Lys 185
  • Modification sites at PhosphoSitePlus

Other Protein References for CBFB Gene

No data available for DME Specific Peptides for CBFB Gene

Domains & Families for CBFB Gene

Protein Domains for CBFB Gene

InterPro:
Blocks:
ProtoNet:

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:0005515 protein binding IEA,IPI 2845103
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

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
Jensen Localization Image for CBFB Gene COMPARTMENTS Subcellular localization image for CBFB gene
Compartment Confidence
nucleus 5
cytosol 3

No data available for Gene Ontology (GO) - Cellular Components for CBFB Gene

Pathways & Interactions for CBFB Gene

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

Pathways by source for CBFB Gene

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:0030099 myeloid cell differentiation IEA --
GO:0048469 cell maturation IEA --
GO:1903506 regulation of nucleic acid-templated transcription IEA --
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:

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 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, MOPED, and MaxQB for CBFB Gene



SOURCE GeneReport for Unigene cluster for CBFB Gene Hs.460988

genes like me logo Genes that share expression patterns with CBFB: view

Protein tissue co-expression partners for CBFB Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia CBFB 35
  • 95.49 (n)
  • 97.65 (a)
CBFB 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBFB 35
  • 97.41 (n)
  • 100 (a)
CBFB 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cbfb 35
  • 93.94 (n)
  • 98.93 (a)
Cbfb 16
Cbfb 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cbfb 35
  • 92.35 (n)
  • 97.06 (a)
oppossum
(Monodelphis domestica)
Mammalia CBFB 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CBFB 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves CBFB 35
  • 88.24 (n)
  • 95.88 (a)
CBFB 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CBFB 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbfb 35
  • 78.74 (n)
  • 91.89 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6721 35
zebrafish
(Danio rerio)
Actinopterygii cbfb 35
  • 76.11 (n)
  • 87.17 (a)
cbfb 36
  • 87 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bgb 37
  • 52 (a)
Bgb 35
  • 57.2 (n)
  • 53.41 (a)
Bgb 36
  • 43 (a)
OneToMany
Bro 36
  • 40 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000317 35
  • 57.46 (n)
  • 48.07 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1961 35
Species with no ortholog for CBFB:
  • 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
rs12935133 -- 67,085,508(+) GGGGT(G/T)GGGGg intron-variant
rs9673529 -- 67,066,391(+) aaaaa(A/T)acaaa intron-variant
rs9673615 -- 67,030,238(+) GCGGT(C/G)TCACT intron-variant
rs9674150 -- 67,066,393(+) aaata(A/C)aaaaa intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2885n71 CNV Loss 21882294
nsv509626 CNV Insertion 20534489
nsv906793 CNV Loss 21882294
nsv1840 CNV Insertion 18451855
nsv516064 CNV Gain 19592680
esv2677554 CNV Deletion 23128226
nsv906794 CNV Loss 21882294
nsv509627 CNV Insertion 20534489
esv988966 CNV Insertion 20482838
dgv2886n71 CNV Loss 21882294

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

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
myeloid leukemia
  • leukemia myelogenous
cleidocranial dysplasia
  • cleidocranial dysplasia, forme fruste, with brachydactyly
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. 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 67
  2. The core binding factor CBF negatively regulates skeletal muscle terminal differentiation. (PMID: 20195544) Philipot O. … Ait-Si-Ali S. (PLoS ONE 2010) 3 23
  3. 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 23
  4. Proleukemic RUNX1 and CBFbeta mutations in the pathogenesis of acute leukemia. (PMID: 20306249) Engel M.E. … Hiebert S.W. (Cancer Treat. Res. 2010) 3 23
  5. Cbfb enhances the osteogenic differentiation of both human and mouse mesenchymal stem cells induced by Cbfa-1 via reducing its ubiquitination-mediated degradation. (PMID: 17379770) Lien C.Y. … Su Y. (Stem Cells 2007) 3 23

Products for CBFB Gene

Sources for CBFB Gene

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