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Aliases for CBFB Gene

Aliases for CBFB Gene

  • Core-Binding Factor, Beta Subunit 2 3
  • 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
  • PEBP2B 3 6
  • Polyomavirus Enhancer Binding Protein 2, Beta Subunit 3
  • SL3-3 Enhancer Factor 1 Beta Subunit 3
  • Core-Binding Factor Subunit Beta 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 lymphoplasmacytic lymphoma. Among its related pathways are ATF-2 transcription factor network and Regulation of nuclear SMAD2/3 signaling. GO annotations related to this gene include sequence-specific 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

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CBFB Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys11, Lys28, and Lys185
  • Modification sites at PhosphoSitePlus

Other Protein References for CBFB Gene

Antibody Products

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

No data available for DME Specific Peptides for CBFB Gene

Domains 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 :
  • Q13951
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 sequence-specific DNA binding transcription factor activity TAS 8351518
GO:0003713 transcription coactivator activity IEA --
GO:0005515 protein binding IPI 10856244
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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CBFB

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 3
cytosol 2

Gene Ontology (GO) - Cellular Components for CBFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with CBFB: view

Pathways for CBFB Gene

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

Pathways by source for CBFB Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 --
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

Transcripts for CBFB Gene

Unigene Clusters for CBFB Gene

Core-binding factor, beta subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CBFB

Primer Products

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 for CBFB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with CBFB: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia CBFB 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CBFB 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cbfb 35
  • 92.35 (n)
  • 97.06 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.6721 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cbfb 35
  • 78.74 (n)
  • 91.89 (a)
zebrafish
(Danio rerio)
Actinopterygii cbfb 35
  • 76.11 (n)
  • 87.17 (a)
cbfb 36
  • 87 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000317 35
  • 57.46 (n)
  • 48.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta Bgb 35
  • 57.2 (n)
  • 53.41 (a)
Bgb 36
  • 43 (a)
OneToMany
Bro 36
  • 40 (a)
OneToMany
Bgb 37
  • 52 (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 MAF
rs882821 -- 67,070,475(-) GACTT(C/T)TAGAT intron-variant
rs1061253 -- 67,100,898(+) TTTTC(A/G)TAATC utr-variant-3-prime
rs1200874 -- 67,064,320(-) ctgag(A/G)cagga intron-variant
rs1212500 -- 67,064,302(-) ttgaa(C/T)ccagg intron-variant
rs1559368 -- 67,035,849(-) TACCC(C/T)TTTCC 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

Relevant External Links for CBFB Gene

HapMap Linkage Disequilibrium report
CBFB
Human Gene Mutation Database (HGMD)
CBFB

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

Disorders for CBFB Gene

(1) OMIM Diseases for CBFB Gene (121360)

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.

(14) Novoseek inferred disease relationships for CBFB Gene

Disease -log(P) Hits PubMed IDs
leukemia myelomonocytic acute 86.6 1
leukemogenesis 81 2
cleidocranial dysplasia 78 1
leukemia 61.8 9
eosinophilia 54.1 2

Relevant External Links for CBFB

Genetic Association Database (GAD)
CBFB
Human Genome Epidemiology (HuGE) Navigator
CBFB
genes like me logo Genes that share disorders with CBFB: view

Publications for CBFB Gene

  1. Structure of the leukemia-associated human CBFB gene. (PMID: 7607682) Hajra A. … Collins F.S. (Genomics 1995) 4 23 48
  2. 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 23
  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
  4. The leukemia-associated AML1 (Runx1) -- CBF beta complex functions as a DNA-induced molecular clamp. (PMID: 11276260) Bravo J. … Warren A.J. (Nat. Struct. Biol. 2001) 3 4
  5. Core binding factor genes and human leukemia. (PMID: 12495904) Hart S.M. … Foroni L. (Haematologica 2002) 3 23

Products for CBFB Gene

Sources for CBFB Gene

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