CBFB


Summary: 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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
core-binding factor subunit betaMIM:121360Ensembl:ENSG00000067955HGNC:HGNC:1539PA2611416q22.1

Gene Categories:

CLINICALLY ACTIONABLE

GO terms in CBFB


Term TypeEvidence TypeGO Term IDGO Des.
MFISMGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFNASGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFIBAGO:0003677DNA binding
MFTASGO:0003700DNA-binding transcription factor activity
MFIBAGO:0003712transcription coregulator activity
MFIEAGO:0003713transcription coactivator activity
MFIPIGO:0005515protein binding
MFISSGO:0043565sequence-specific DNA binding
BPISSGO:0000122negative regulation of transcription by RNA polymerase II
BPIMPGO:0000209protein polyubiquitination
BPIEAGO:0001649osteoblast differentiation
BPTASGO:0001959regulation of cytokine-mediated signaling pathway
BPIBAGO:0006357regulation of transcription by RNA polymerase II
BPTASGO:0006366transcription by RNA polymerase II
BPTASGO:0006367transcription initiation from RNA polymerase II promoter
BPIEAGO:0030098lymphocyte differentiation
BPIEAGO:0030099myeloid cell differentiation
BPTASGO:0030111regulation of Wnt signaling pathway
BPTASGO:0033146regulation of intracellular estrogen receptor signaling pathway
BPISSGO:0043371negative regulation of CD4-positive, alpha-beta T cell differentiation
BPISSGO:0043378positive regulation of CD8-positive, alpha-beta T cell differentiation
BPTASGO:0045589regulation of regulatory T cell differentiation
BPTASGO:0045616regulation of keratinocyte differentiation
BPTASGO:0045637regulation of myeloid cell differentiation
BPTASGO:0045652regulation of megakaryocyte differentiation
BPIEAGO:0045944positive regulation of transcription by RNA polymerase II
BPIEAGO:0048469cell maturation
BPTASGO:0050855regulation of B cell receptor signaling pathway
BPIEAGO:0060216definitive hemopoiesis
BPTASGO:1902036regulation of hematopoietic stem cell differentiation
BPTASGO:2000810regulation of bicellular tight junction assembly
CCTASGO:0005654nucleoplasm
CCHDAGO:0016020membrane
CCTASGO:0016513core-binding factor complex

Gene expression in normal tissue: CBFB

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CBFB


DatabasePathway IDPathway Des.
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-8877330RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
reactomeR-HSA-8878159Transcriptional regulation by RUNX3
reactomeR-HSA-8878159Transcriptional regulation by RUNX3
reactomeR-HSA-8878166Transcriptional regulation by RUNX2
reactomeR-HSA-8878166Transcriptional regulation by RUNX2
reactomeR-HSA-8878171Transcriptional regulation by RUNX1
reactomeR-HSA-8878171Transcriptional regulation by RUNX1
reactomeR-HSA-8931987RUNX1 regulates estrogen receptor mediated transcription
reactomeR-HSA-8934593Regulation of RUNX1 Expression and Activity
reactomeR-HSA-8935964RUNX1 regulates expression of components of tight junctions
reactomeR-HSA-8936459RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
reactomeR-HSA-8939211ESR-mediated signaling
reactomeR-HSA-8939236RUNX1 regulates transcription of genes involved in differentiation of HSCs
reactomeR-HSA-8939236RUNX1 regulates transcription of genes involved in differentiation of HSCs
reactomeR-HSA-8939242RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
reactomeR-HSA-8939242RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
reactomeR-HSA-8939243RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
reactomeR-HSA-8939245RUNX1 regulates transcription of genes involved in BCR signaling
reactomeR-HSA-8939246RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
reactomeR-HSA-8939247RUNX1 regulates transcription of genes involved in interleukin signaling
reactomeR-HSA-8939256RUNX1 regulates transcription of genes involved in WNT signaling
reactomeR-HSA-8939902Regulation of RUNX2 expression and activity
reactomeR-HSA-8939902Regulation of RUNX2 expression and activity
reactomeR-HSA-8940973RUNX2 regulates osteoblast differentiation
reactomeR-HSA-8940973RUNX2 regulates osteoblast differentiation
reactomeR-HSA-8941284RUNX2 regulates chondrocyte maturation
reactomeR-HSA-8941326RUNX2 regulates bone development
reactomeR-HSA-8941326RUNX2 regulates bone development
reactomeR-HSA-8941332RUNX2 regulates genes involved in cell migration
reactomeR-HSA-8941332RUNX2 regulates genes involved in cell migration
reactomeR-HSA-8941333RUNX2 regulates genes involved in differentiation of myeloid cells
reactomeR-HSA-8941858Regulation of RUNX3 expression and activity
reactomeR-HSA-8949275RUNX3 Regulates Immune Response and Cell Migration
reactomeR-HSA-8949275RUNX3 Regulates Immune Response and Cell Migration
reactomeR-HSA-8951911RUNX3 regulates RUNX1-mediated transcription
reactomeR-HSA-8951936RUNX3 regulates p14-ARF
reactomeR-HSA-9006931Signaling by Nuclear Receptors
reactomeR-HSA-9018519Estrogen-dependent gene expression
wikipathwaysWP2004miR-targeted genes in lymphocytes - TarBase
wikipathwaysWP2005miR-targeted genes in muscle cell - TarBase
wikipathwaysWP2006miR-targeted genes in squamous cell - TarBase
wikipathwaysWP3300Dual hijack model of Vif in HIV infection
pidap1_pathwayAP-1 transcription factor network
pidatf2_pathwayATF-2 transcription factor network
pidsmad2_3nuclearpathwayRegulation of nuclear SMAD2/3 signaling

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD158NSC1415403
iGMDRD248BRD43543
iGMDRD532Olaparib3
iGMDRD871BRD63686
iGMDRD872BRD71373
iGMDRD314Tanespimycin3
iGMDRD300Tozasertib3
iGMDRD451Serdemetan3

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CBFB

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