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FLASH GENE
Symbol CBFB contributors: mct - updated : 08-02-2016
HGNC name core-binding factor, beta subunit
HGNC id 1539
Corresponding disease
AMLM4EO acute myelomonocytic leukemia with bone marrow eosinophilia
Location 16q22.1      Physical location : 67.063.049 - 67.134.956
Synonym name
  • core binding factor to the enhancer of T cell receptor genes,beta subunit
  • SL3-3 enhancer factor 1 beta subunit
  • SL3/AKV core-binding factor beta subunit
  • polyomavirus enhancer binding protein 2, beta subunit
  • Synonym symbol(s) PEBP2B
    DNA
    TYPE functioning gene
    STRUCTURE 71.00 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    CKLFSF3 16q22.1 chemokine-like factor super family 3 CKLFSF4 16q22.1 chemokine-like factor super family 4 DNCLI2 16q22.1 dynein, cytoplasmic, light intermediate polypeptide 2 FLJ35894 16q22.1 hypothetical protein FLJ35894 APPBP1 16q22 amyloid beta precursor protein binding protein 1, 59kDa CA7 16q22.1 carbonic anhydrase VII KIAA1348 CDH16 16q22.1 cadherin 16, KSP-cadherin RRAD 16q22 Ras-related associated with diabetes CGI-128 16q22.1-q22.3 CGI-128 protein CES2 16q22.1 carboxylesterase 2 (intestine, liver) FLJ21736 16q22.1 esterase 31 FLJ37464 16q22.1 hypothetical protein FLJ37464 CBFB 16q22.1 core-binding factor, beta subunit Lin10 16q22.1 lin-10 protein homolog MGC4655 16q22.1 hypothetical protein MGC4655 TRADD 16q22 TNFRSF1A-associated via death domain FBXL8 16q23.1 F-box and leucine-rich repeat protein 8 HSF4 16q21 heat shock transcription factor 4 NOL3 16qp21-q23 nucleolar protein 3 (apoptosis repressor with CARD domain) LOC283849 16q22.1 hypothetical protein LOC283849 E2F4 16q22.1 E2F transcription factor 4, p107/p130-binding ELMO3 16q23.1 engulfment and cell motility 3 (ced-12 homolog, C. elegans) FBXL9 16q23-q31 F-box and leucine-rich repeat protein 9 HSPC171 16q22.1 HSPC171 protein FHOD1 16q22 formin homology 2 domain containing 1 SLC9A5 16q22.1 solute carrier family 9 (sodium/hydrogen exchanger), isoform 5 DKFZP434I216 16q22.1 DKFZP434I216 protein FLJ40162 16q22.1 FLJ40162 protein FLJ11004 16q22.1 hypothetical protein FLJ11004 CGI-38 16q22.1 brain specific protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3150 22.1 187 - -
    - splicing 3181 21.5 182 - -
    alternative donor site in exon 5 and different ORF from exon 1
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
     salivary gland   highly
    Endocrineparathyroid   highly
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Connectivebone  highly
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text developing bone
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two distinct domains, a newly defined regulatory domain that interacts with filamin A
  • the previously identified RUNX1-binding domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Cbfb
    Homologene
    FAMILY CBF beta family
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    text Filamin A retains CBFB in the cytoplasm, thereby hindering its engagement as a RUNX1 partner
    basic FUNCTION
  • master regulator for a host of genes specific to hematopoiesis (RUNX1) or osteogenesis (RUNX2)
  • required for hematopoietic stem cells emergence, bone formation and normal differentiation of lymphoid and myeloid lineage cells
  • involved in the regulation of the G1-checkpoint at the cyclin-dependent kinase inhibitor CDKN1A
  • CBFB and RUNX1 are critical for the establishment of definitive hematopoiesis and are implicated in leukemic transformation
  • Runx proteins and CBFB restrict granulocyte lineage commitment to facilitate multilineage hematopoietic differentiation and thus identify their novel tumor suppressor function in myeloid leukemia
  • CELLULAR PROCESS nucleotide, transcription
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text hematopoiesis, osteogenesis
    PATHWAY
    metabolism
    signaling
    a component
  • protein forming heterodimers with AML1 proteins (AML1, AML1B, AML2, AML3) and increasing their affinity for DNA (core) recognition sequence
  • dimerizing with either of the CBF alpha subunits
  • heterodimerizing with RUNX2 for osteoblasts and chondrocytes differentiation (heterodimeric transcription factor PEBP2/CBF is composed of a DNA-binding subunit, RUNX1, and a non-DNA-binding subunit, CBFB)
  • INTERACTION
    DNA binding to the core site of various enhancers and promoters,including T cell receptor gene enhancers,TRIM10, etc...
    RNA
    small molecule
    protein interacting with FLNA
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AMLM4EO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       protein chimeric
    chimeric fusion protein with MYH11 in acute myeloid leukemia with good prognosis
    constitutional     --over  
    in DMD with milder phenotype
    tumoral   inversion    
    in acute myeloid leukemia (AML-M4Eo) with inversion inv(16)(p13;q22) or t(16;16)(p13;q22)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS