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

CBFB Gene

protein-coding   GIFtS: 64
GCID: GC16P067063

Core-Binding Factor, Beta Subunit

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Core-Binding Factor, Beta Subunit1 2     SL3/AKV Core-Binding Factor Beta Subunit2 3
Polyomavirus Enhancer-Binding Protein 2 Beta Subunit2 3     PEBP2B2
CBF-beta2 3     Core-Binding Factor Subunit Beta2
PEA2-beta2 3     Polyomavirus Enhancer Binding Protein 2, Beta Subunit2
PEBP2-beta2 3     SL3-3 Enhancer Factor 1 Beta Subunit2
SL3-3 Enhancer Factor 1 Subunit Beta2 3     

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


(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 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 chromosome 16 trisomy, and acute myelomonocytic leukemia. GO annotations related to this gene include transcription coactivator activity and sequence-specific DNA binding transcription factor activity.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
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 plasmidCBFB 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for CBFB at MOPED 

Post-translational modifications:

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

  • CBFB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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  

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    Sino Biological Recombinant Protein for CBFB
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    ProSpec Recombinant Protein for CBFB
    Browse Proteins at Cloud-Clone Corp. 

    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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR003417 CBF_beta

    Graphical View of Domain Structure for InterPro Entry Q13951

    ProtoNet protein and cluster: Q13951

    1 Blocks protein domain: IPB003417 Core binding factor

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


    CBFB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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 TAS8351518
    GO:0003713transcription coactivator activity IEA--
    GO:0005515protein binding IPI10856244
         
    CBFB for ontologies           About GeneDecksing


    Phenotypes:
         15/19 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Cbfb) (see all 19):
     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:
         MGI mouse knock-outs for CBFB: Cbfbtm1Spe Cbfbtm1Tok Cbfbtm1Tno

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CBFB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CBFB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CBFB 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CBFB 

    miRNA
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    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)

    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 plasmidCBFB 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBFB


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CBFB About                                                                                                See pathways by source

    SuperPathContained pathways About
    1ATF-2 transcription factor network
    ATF-2 transcription factor network
    2Regulation of nuclear SMAD2/3 signaling
    Regulation of nuclear SMAD2/3 signaling


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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CBFB

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

    5/37 Interacting proteins for CBFB (Q139511, 2, 3 ENSP000004151514) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RUNX1Q011962, 3, ENSP000003003054MINT-4791117 I2D: score=10 STRING: ENSP00000300305
    CHGBP050602, 3MINT-65560 I2D: score=5 
    MAP2P111371, 3EBI-718750,EBI-2682460 I2D: score=1 
    ASUNQ9NVM91, 3, ENSP000002611914EBI-718750,EBI-741429 I2D: score=1 STRING: ENSP00000261191
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification ----
    GO:0001649osteoblast differentiation IEA--
    GO:0006366transcription from RNA polymerase II promoter TAS8351518
    GO:0030098lymphocyte differentiation IEA--
    GO:0030099myeloid cell differentiation IEA--

    CBFB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (PEBB)

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    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 plasmidCBFB 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CBFB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CBFB
    Clone
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    OriGene clones in human, mouse for CBFB (see all 13)
    OriGene ORF clones in mouse, rat for CBFB
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CBFB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CBFB
    Sirion Biotech Customized lentivirus for stable overexpression of CBFB 
                         Customized lentivirus expression plasmids for stable overexpression of CBFB 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CBFB
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CBFB

    Additional mRNA 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.95199052  DT.100694704  DT.95219068  DT.100781415  DT.91658411  DT.95199095 
    DT.97795389  DT.40244814  DT.414896 

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

    CR618498 BI789190 BU541927 R74019 BU858589 NM_022845 BI962672 W74323 
    AL561208 AA358402 BX328185 BQ954600 CK821239 CB159140 BG029644 AW955066 
    BX372258 BI035782 AI766036 BG698954 BI035784 AL582499 BX436408 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

    (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)      CBFB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCCTTTTT
    CBFB Expression
    About this image


    CBFB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 41 entries
             Endochondral Preosteoblasts Stylopod Perichondrium
             sensory organ/ear/inner ear   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 16 entries
             Prehypertrophic Chondrocytes Autopod Growth Plate
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Medulla Oblongata
             brain/hindbrain   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ/bladder   

    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBFB

    (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 6/14 species (see all 14)    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
    Uncharacterized protein
    98(a)
    1 ↔ 1
    5(108599381-108624751)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/1223 SNPs in CBFB are shown (see all 1223)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362264
    A breast cancer sample4--see VAR_0362262 P A mis40--------
    rs593594351,2
    --52967852(+) TCTTTC/TTTTTT 2 -- int10--------
    rs129286891,2
    C,F,H--52983104(+) aaaatA/Gtgtgt 2 -- int14Minor allele frequency- G:0.01NS EA WA 300
    rs557327151,2
    C--52983105(+) AAATGC/TGTGTG 2 -- int11Minor allele frequency- T:0.00WA 2
    rs678457641,2
    C--53001288(+) TTTTTT/-TTTTT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs2007538131,2
    C--67085656(+) TTTTT-/TCTGAG 2 -- int10--------
    rs1116695201,2
    C--67087319(+) ACACCC/TGGCTA 2 -- int11Minor allele frequency- T:0.00CSA 1
    rs568157711,2
    C--67097399(+) TGCAG-/ATGGTG 2 -- int10--------
    rs1123189771,2
    C,F--67107646(+) TCTCAA/GAAAAA 2 -- int12Minor allele frequency- G:0.21WA 120
    rs1453426071,2
    C--67109099(+) AAAAA-/ATATGTG 2 -- int10--------

    HapMap Linkage Disequilibrium report for CBFB (67063019 - 67134961 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CBFB:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2677554CNV Deletion23128226
    nsv1840CNV Insertion18451855
    nsv509626CNV Insertion20534489
    nsv509627CNV Insertion20534489
    esv988966CNV Insertion20482838
    nsv906794CNV Loss21882294
    dgv2886n71CNV Loss21882294
    nsv906793CNV Loss21882294
    dgv2885n71CNV Loss21882294
    nsv516064CNV Gain19592680


    Human Gene Mutation Database (HGMD): CBFB
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CBFB
    DNA2.0 Custom Variant and Variant Library Synthesis for CBFB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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
    chromosome 16 trisomy    acute myelomonocytic leukemia    cleidocranial dysplasia    lymphoplasmacytic lymphoma
    imperforate anus    acute myeloid leukemia    myeloid leukemia    acute monocytic leukemia
    duchenne muscular dystrophy    monocytic leukemia    acute leukemia    polycythemia vera
    craniosynostosis    polycythemia    waldenstrom macroglobulinemia    myelodysplastic syndromes
    macroglobulinemia    leukemia    eosinophilia    muscular dystrophy


    CBFB for disorders           About GeneDecksing

    10/14 Novoseek inferred 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

    (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 178):
    (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. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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