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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CBFB Gene

protein-coding   GIFtS: 63
GCID: GC16P067063

core-binding factor, beta subunit
 Explore 29 diseases affiliated with
CBFB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CBFB    

Aliases
for CBFB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Core-Binding Factor, Beta Subunit1 2     SL3-3 Enhancer Factor 1 Subunit Beta2 3
PEBP2B1 2     SL3/AKV Core-Binding Factor Beta Subunit2 3
Polyomavirus Enhancer-Binding Protein 2 Beta Subunit2 3     Core-Binding Factor Subunit Beta2
CBF-Beta1     Polyomavirus Enhancer Binding Protein 2, Beta Subunit2
PEA2-Beta1     SL3-3 Enhancer Factor 1 Beta Subunit2
PEBP2-Beta1     

External Ids:    HGNC: 15391   Entrez Gene: 8652   Ensembl: ENSG000000679557   OMIM: 1213605   UniProtKB: Q139513   

Export aliases for CBFB gene to outside databases

Previous GC identifers: GC16P057757 GC16P067440 GC16P066798 GC16P066839 GC16P065620 GC16P052937


Summaries
for CBFB gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CBFB:
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)

UniProtKB/Swiss-Prot: PEBB_HUMAN, Q13951
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 Wiki entry for CBFB


Genomic Views
for CBFB gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CBFB gene promoter:
         ER-alpha   Tal-1beta   E47   YY1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CBFB promoter sequence
   Search SABiosciences Chromatin IP Primers for CBFB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CBFB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

CBFB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBFB gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P067063:  view genomic region     (about GC identifiers)

Start:
 67,063,019 bp from pter      End:
 67,134,961 bp from pter
Size:
 71,943 bases      Orientation:
 plus strand

Proteins
for CBFB gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PEBB_HUMAN, Q13951 (See protein sequence)
Recommended Name: Core-binding factor subunit beta  
Size: 182 amino acids; 21508 Da
Subunit: Heterodimer with RUNX1. Interacts with COPRS (By similarity). Found in a complex with PRMT5, RUNX1 and CBFB
(By similarity)
Subcellular location: Nucleus (Potential)
3 PDB 3D structures from and Proteopedia for CBFB:
1CL3 (3D)        1E50 (3D)        1H9D (3D)    
Secondary accessions: A8K347 Q13124 Q9HCT2
Alternative splicing: 2 isoforms:  Q13951-1   Q13951-2   (Contains a phosphoserine at position 173)

Explore the universe of human proteins at neXtProt for CBFB: NX_Q13951

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13951

    • CBFB Protein expression data from MOPED and PaxDb:    About this image 
    CBFB Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001746.1  NP_074036.1  

    ENSEMBL proteins: 
     ENSP00000462273   ENSP00000290858   ENSP00000456637   ENSP00000415151   ENSP00000462932  
     ENSP00000462148  

    Human Recombinant Protein Products for CBFB: 
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    Novus Biologicals CBFB Proteins
    Novus Biologicals CBFB Lysates
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    ProSpec Recombinant Protein for CBFB
    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--

    CBFB for ontologies           About GeneDecksing



    CBFB Antibody Products: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for CBFB gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CBFB for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR003417 CBF_beta

    Graphical View of Domain Structure for InterPro Entry Q13951

    ProtoNet protein and cluster: Q13951

    1 Blocks protein family: IPB003417 Core binding factor

    UniProtKB/Swiss-Prot: PEBB_HUMAN, Q13951
    Similarity: Belongs to the CBF-beta family


    Function
    for CBFB gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PEBB_HUMAN, Q13951
    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

         Genatlas biochemistry entry for CBFB:
    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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS9751756
    GO:0003713transcription coactivator activity IEA--
    GO:0005515protein binding IPI--
         
    CBFB for ontologies           About GeneDecksing


    Phenotypes:
         15/18 MGI mutant phenotypes (inferred from 13 alleles) (MGI details for Cbfb) (see all 18):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  nervous system  no phenotypic analysis 

    CBFB for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for CBFB: Cbfbtm1Spe Cbfbtm1Tok Cbfbtm1Tno
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CBFB 

    miRNA
    Products:            		miRTarBase miRNAs that target CBFB:
    hsa-mir-30a (MIRT005217), hsa-mir-125b (MIRT003970), hsa-mir-145 (MIRT000676), hsa-let-7b (MIRT005054), hsa-mir-155 (MIRT001562)

    OriGene 3'-UTR Clone (see all 2): CBFB
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CBFB
    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate CBFB (see all 37):
    hsa-miR-3164 hsa-miR-100* hsa-miR-188-5p hsa-miR-605 hsa-miR-30d hsa-miR-301a hsa-miR-374c hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmid: CBFB 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CBFB (see all 7)
    OriGene shRNA RFP: CBFB
    OriGene siRNA: CBFB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CBFB
    Sirion Biotech Custom design and validation of potent shRNA sequences against CBFB 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CBFB 
    Sirion Biotech Customized adenovirus for potent knockdown of CBFB

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CBFB (see all 7)
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CBFB 

    Cell Line
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    Search LifeMap BioReagents cell lines for CBFB
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBFB


    Pathways & Interactions
    for CBFB gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1ATF-2 transcription factor network
    		ATF-2 transcription factor network1.00
    2Regulation of nuclear SMAD2/3 signaling
    		Regulation of nuclear SMAD2/3 signaling1.00


    2 BioSystems Pathways for CBFB 
        Regulation of nuclear SMAD2/3 signaling
    ATF-2 transcription factor network


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CBFB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/38 Interacting proteins for CBFB (Q139511, 2, 3 ENSP000004151514) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RUNX1Q011962, 3, ENSP000003003054MINT-4791117 I2D: score=10 STRING: ENSP00000300305
    CHGBP050602, 3MINT-65560 I2D: score=5 
    AsunQ9NVM91, 3EBI-718750,EBI-741429 I2D: score=1 
    MAP2P111371, 3EBI-718750,EBI-2682460 I2D: score=1 
    ASUNQ9NVM91, 3, ENSP000002611914EBI-718750,EBI-741429 I2D: score=1 STRING: ENSP00000261191
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification ----
    GO:0001649osteoblast differentiation IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS8351518
    GO:0030098lymphocyte differentiation IEA--

    CBFB for ontologies           About GeneDecksing



    Drugs & Compounds
    for CBFB gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CBFB
    Search CenterWatch for drugs/clinical trials and news about CBFB / PEBB 

    Transcripts
    for CBFB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CBFB gene (2 alternative transcripts): 
    NM_001755.2  NM_022845.2  

    Unigene Cluster for CBFB:

    Core-binding factor, beta subunit
    Hs.460988  [show with all ESTs]
    Unigene Representative Sequence: NM_001755
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561924 ENST00000290858(uc002era.3 uc002erb.3 uc010vja.2)
    ENST00000564034 ENST00000412916 ENST00000565389 ENST00000563939 ENST00000567947
    ENST00000566281 ENST00000568858

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): CBFB
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CBFB
    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate CBFB (see all 37):
    hsa-miR-3164 hsa-miR-100* hsa-miR-188-5p hsa-miR-605 hsa-miR-30d hsa-miR-301a hsa-miR-374c hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmid: CBFB 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CBFB (see all 7)
    OriGene shRNA RFP: CBFB
    OriGene siRNA: CBFB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CBFB
    Sirion Biotech Custom design and validation of potent shRNA sequences against CBFB 
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CBFB (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): CBFB (NM_001755)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CBFB 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CBFB

    Additional cDNA sequence: 

    AF294326.1 AK290462.1 AK291834.1 AK311084.1 AK311724.1 BC018509.1 BT006862.1 L20298.1 
    X87833.1 

    11 DOTS entries:

    DT.91696141  DT.97854197  DT.100694704  DT.95199052  DT.95219068  DT.100781415  DT.91658411  DT.95199095 
    DT.97795389  DT.40244814  DT.414896 

    24/30 AceView cDNA sequences (see all 30):

    BI962672 NM_022845 CR618498 BU858589 R74019 W74323 BU541927 BI789190 
    AA358402 AL561208 BG029644 CB159140 BX372258 BX328185 BQ954600 AW955066 
    CK821239 AI766036 BI035782 BI035784 BG698954 N24456 AA352073 BM462417 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CBFB    About this scheme

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


    ECgene alternative splicing isoforms for CBFB

    Expression
    for CBFB gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CBFB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCCCTTTTT
    CBFB Expression
    About this image

    CBFB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/40 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 40) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod Growth PlatePrehypertrophic ChondrocytesBone, Cartilage
    BoneAutopod PerichondriumEndochondral PreosteoblastsBone
    BoneStylopod Growth PlatePrehypertrophic ChondrocytesBone, Cartilage
    BoneStylopod PerichondriumEndochondral PreosteoblastsBone
    BoneZeugopod Growth PlatePrehypertrophic ChondrocytesBone, Cartilage
    BoneZeugopod PerichondriumEndochondral PreosteoblastsBone
    BoneAutopod Growth PlateHypertrophic ChondrocytesBone, Cartilage
    BoneAutopod PeriosteumEndochondral OsteoblastsBone
    BoneAutopod PeriosteumImmature Endochondral OsteoblastsBone
    BoneCervical VertebraeEndochondral OsteoblastsBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CBFB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CBFB

    SOURCE GeneReport for Unigene cluster: Hs.460988
        SABiosciences Expression via Pathway-Focused PCR Array including CBFB: 
              Hematopoiesis in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CBFB
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBFB

    Orthologs
    for CBFB gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CBFB gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Cbfb1 , 5 core binding factor beta1, 5 93.94(n)1
    98.93(a)1    		   8 (53.04 cM)5
    124001  NM_022309.41  NP_071704.31 
     1051706745 
    chicken
    (Gallus gallus)    		 Aves CBFB1 core-binding factor, beta subunit 88.24(n)
    95.88(a)    		   395257  NM_204570.2  NP_989901.2 
    lizard
    (Anolis carolinensis)    		 Reptilia CBFB6
    		 --
    		 98(a)
    		 1 ↔ 1
    		 5(108599390-108624746)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.67212 Xenopus laevis transcribed sequence with strong similarity more 79.55(n)    CA787969.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii cbfb2 core-binding factor, beta subunit 78.04(n)   30744  AF278758.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Bgb1 , 3 regulation of transcription from Pol II
    promoter more3
    Big brother1    		 52(a)3
    57.47(n)1
    54.02(a)1    		   3 62A93
    381981  NM_057717.41  NP_477065.31 


    ENSEMBL Gene Tree for CBFB (if available)
    TreeFam Gene Tree for CBFB (if available) 

    Paralogs
    for CBFB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for CBFB gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1002 NCBI SNPs in CBFB are shown (see all 1002)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs71858951,2
    		C,F,A,H--52934888(+) ACGACG/CAGTGT 2 -- us2k16Minor allele frequency- C:0.10NS EA WA 536
    rs71915001,2
    		C--52935906(+) aatacA/Gaaaaa 2 -- us2k10--------
    rs778774381,2
    		F--52936566(+) GTGCAG/CAGCCT 2 -- us2k11Minor allele frequency- C:0.18WA 118
    rs80618001,2
    		C,F,H--52937467(+) CCGCGG/AAGGGG 2 -- int15Minor allele frequency- A:0.07NS EA NA WA 504
    rs96736151,2
    		H--52938109(+) GCGGTC/GTCACT 2 -- int14Minor allele frequency- G:0.00NS EA 418
    rs1130028221,2
    		C--52938171(+) GGGGA-/GGGGGG 2 -- int11Minor allele frequency- G:0.00CSA 2
    rs620579391,2
    		C--52938474(+) TTGATT/AATTAC 2 -- int13Minor allele frequency- A:0.07NA 124
    rs609155791,2
    		F--52938973(+) TAAAAT/GTCTCC 2 -- int11Minor allele frequency- G:0.08WA 118
    rs80480141,2
    		C,F,H--52939050(+) GAGTTG/TTAATA 2 -- int19Minor allele frequency- T:0.13NS NA WA 1034
    rs1136339221,2
    		F--52939252(+) CTGGTG/ACGATG 2 -- int12Minor allele frequency- A:0.50CSA 4

    HapMap Linkage Disequilibrium report for CBFB (67063019 - 67134961 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CBFB
         1 CNV: 49735
    Human Gene Mutation Database (HGMD): CBFB

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CBFB
    DNA2.0 Custom Variant and Variant Library Synthesis for CBFB

    Disorders / Diseases
    for CBFB gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CBFB for disorders           About GeneDecksing

    OMIM gene information: 121360    OMIM disorders: --

    UniProtKB/Swiss-Prot: PEBB_HUMAN, Q13951
  • 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

    20/29 diseases for CBFB (see all 29):    About MalaCards
    acute myeloid leukemia    myeloid leukemia    leukemia    parietal foramina
    chromosome 16 trisomy    hematopoiesis    cleidocranial dysplasia    imperforate anus
    duchenne muscular dystrophy    polycythemia vera    myelomonocytic leukemia    muscular dystrophy
    monocytic leukemia    acute myelomonocytic leukemia    acute monocytic leukemia    myelodysplastic syndrome
    polycythemia    lymphoblastic leukemia    acute leukemia    craniosynostosis

    10/14 Novoseek disease relationships for CBFB gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia myelomonocytic acute 86.6 1 15381374 (1)
    leukemogenesis 81 4 11105900 (1), 20306249 (1)
    cleidocranial dysplasia 78 2 10856244 (1)
    leukemia 61.8 10 11920209 (1), 17961830 (1), 9606182 (1), 12217689 (1) (see all 9)
    eosinophilia 54.1 3 17452259 (1), 8779782 (1)
    acute leukemia 53.3 7 20306249 (2), 19202074 (1), 10856244 (1)
    lymphoblastic leukemia acute 45 4 20306249 (1), 16213359 (1)
    chromosomal aberrations 43.5 2 16390316 (1), 8779782 (1)
    myelodysplastic syndromes 36.4 3 11986246 (2)
    myeloid leukemia chronic 26.3 2 16213359 (1)

    Genetic Association Database (GAD): CBFB
    Human Genome Epidemiology (HuGE) Navigator: CBFB (2 documents)

    Export disorders for CBFB gene to outside databases

    Publications
    for CBFB gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CBFB gene, integrated from 9 sources (see all 173):
    (articles sorted by number of sources associating them with CBFB)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. (PubMed id 8351518)1, 2, 3 Liu P.... Collins F.S. (1993)
    2. Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta. (PubMed id 10856244)1, 2, 9 Warren A.J.... Rabbitts T.H. (2000)
    3. Structure of the leukemia-associated human CBFB gene. (PubMed id 7607682)2, 4, 9 Hajra A. and Collins F.S. (1995)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The leukemia-associated AML1 (Runx1) -- CBF beta complex functions as a DNA-induced molecular clamp. (PubMed id 11276260)1, 2 Bravo J.... Warren A.J. (2001)
    6. Molecular insights into PEBP2/CBF beta-SMMHC associated acute leukemia revealed from the structure of PEBP2/CBF beta. (PubMed id 10404215)1, 2 Goger M.... Werner M.H. (1999)
    7. Acute myeloid leukemia with Inv (16) produces a chimeric transcription factor with a myosin heavy chain tail. (PubMed id 7587111)1, 3 Liu P....Collins F.S. (1994)
    8. Cbfb enhances the osteogenic differentiation of both human and mouse mesenchymal stem cells induced by Cbfa-1 via reducing its ubiquitination-mediated degradation. (PubMed id 17379770)1, 9 Lien C.Y....Su Y. (2007)
    9. Frequent downregulation of the runt domain transcription factors RUNX1, RUNX3 and their cofactor CBFB in gastric cancer. (PubMed id 15386419)1, 9 Sakakura C....Ito Y. (2005)
    10. The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CB F-beta. (PubMed id 20225274)1, 9 Han M.S....Choi J.Y. (2010)

    External Searches for CBFB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing CBFB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 865 HGNC: 1539 AceView: CBFB Ensembl:ENSG00000067955 euGenes: HUgn865
    ECgene: CBFB H-InvDB: CBFB

    Other Databases showing CBFB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CBFB gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CBFB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CBFB Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for CBFB gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CBFB gene:
    Search GeneIP for patents involving CBFB

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