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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| core-binding factor subunit beta | MIM:121360 | Ensembl:ENSG00000067955 | HGNC:HGNC:1539 | PA26114 | 16q22.1 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in CBFB
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IBA | GO:0003677 | DNA binding |
| MF | TAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | IBA | GO:0003712 | transcription coregulator activity |
| MF | IEA | GO:0003713 | transcription coactivator activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | ISS | GO:0043565 | sequence-specific DNA binding |
| BP | ISS | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0000209 | protein polyubiquitination |
| BP | IEA | GO:0001649 | osteoblast differentiation |
| BP | TAS | GO:0001959 | regulation of cytokine-mediated signaling pathway |
| BP | IBA | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0006366 | transcription by RNA polymerase II |
| BP | TAS | GO:0006367 | transcription initiation from RNA polymerase II promoter |
| BP | IEA | GO:0030098 | lymphocyte differentiation |
| BP | IEA | GO:0030099 | myeloid cell differentiation |
| BP | TAS | GO:0030111 | regulation of Wnt signaling pathway |
| BP | TAS | GO:0033146 | regulation of intracellular estrogen receptor signaling pathway |
| BP | ISS | GO:0043371 | negative regulation of CD4-positive, alpha-beta T cell differentiation |
| BP | ISS | GO:0043378 | positive regulation of CD8-positive, alpha-beta T cell differentiation |
| BP | TAS | GO:0045589 | regulation of regulatory T cell differentiation |
| BP | TAS | GO:0045616 | regulation of keratinocyte differentiation |
| BP | TAS | GO:0045637 | regulation of myeloid cell differentiation |
| BP | TAS | GO:0045652 | regulation of megakaryocyte differentiation |
| BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0048469 | cell maturation |
| BP | TAS | GO:0050855 | regulation of B cell receptor signaling pathway |
| BP | IEA | GO:0060216 | definitive hemopoiesis |
| BP | TAS | GO:1902036 | regulation of hematopoietic stem cell differentiation |
| BP | TAS | GO:2000810 | regulation of bicellular tight junction assembly |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | HDA | GO:0016020 | membrane |
| CC | TAS | GO:0016513 | core-binding factor complex |
Gene expression in normal tissue: CBFB
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CBFB
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8877330 | RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) |
| reactome | R-HSA-8878159 | Transcriptional regulation by RUNX3 |
| reactome | R-HSA-8878159 | Transcriptional regulation by RUNX3 |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8931987 | RUNX1 regulates estrogen receptor mediated transcription |
| reactome | R-HSA-8934593 | Regulation of RUNX1 Expression and Activity |
| reactome | R-HSA-8935964 | RUNX1 regulates expression of components of tight junctions |
| reactome | R-HSA-8936459 | RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function |
| reactome | R-HSA-8939211 | ESR-mediated signaling |
| reactome | R-HSA-8939236 | RUNX1 regulates transcription of genes involved in differentiation of HSCs |
| reactome | R-HSA-8939236 | RUNX1 regulates transcription of genes involved in differentiation of HSCs |
| reactome | R-HSA-8939242 | RUNX1 regulates transcription of genes involved in differentiation of keratinocytes |
| reactome | R-HSA-8939242 | RUNX1 regulates transcription of genes involved in differentiation of keratinocytes |
| reactome | R-HSA-8939243 | RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known |
| reactome | R-HSA-8939245 | RUNX1 regulates transcription of genes involved in BCR signaling |
| reactome | R-HSA-8939246 | RUNX1 regulates transcription of genes involved in differentiation of myeloid cells |
| reactome | R-HSA-8939247 | RUNX1 regulates transcription of genes involved in interleukin signaling |
| reactome | R-HSA-8939256 | RUNX1 regulates transcription of genes involved in WNT signaling |
| reactome | R-HSA-8939902 | Regulation of RUNX2 expression and activity |
| reactome | R-HSA-8939902 | Regulation of RUNX2 expression and activity |
| reactome | R-HSA-8940973 | RUNX2 regulates osteoblast differentiation |
| reactome | R-HSA-8940973 | RUNX2 regulates osteoblast differentiation |
| reactome | R-HSA-8941284 | RUNX2 regulates chondrocyte maturation |
| reactome | R-HSA-8941326 | RUNX2 regulates bone development |
| reactome | R-HSA-8941326 | RUNX2 regulates bone development |
| reactome | R-HSA-8941332 | RUNX2 regulates genes involved in cell migration |
| reactome | R-HSA-8941332 | RUNX2 regulates genes involved in cell migration |
| reactome | R-HSA-8941333 | RUNX2 regulates genes involved in differentiation of myeloid cells |
| reactome | R-HSA-8941858 | Regulation of RUNX3 expression and activity |
| reactome | R-HSA-8949275 | RUNX3 Regulates Immune Response and Cell Migration |
| reactome | R-HSA-8949275 | RUNX3 Regulates Immune Response and Cell Migration |
| reactome | R-HSA-8951911 | RUNX3 regulates RUNX1-mediated transcription |
| reactome | R-HSA-8951936 | RUNX3 regulates p14-ARF |
| reactome | R-HSA-9006931 | Signaling by Nuclear Receptors |
| reactome | R-HSA-9018519 | Estrogen-dependent gene expression |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP2006 | miR-targeted genes in squamous cell - TarBase |
| wikipathways | WP3300 | Dual hijack model of Vif in HIV infection |
| pid | ap1_pathway | AP-1 transcription factor network |
| pid | atf2_pathway | ATF-2 transcription factor network |
| pid | smad2_3nuclearpathway | Regulation of nuclear SMAD2/3 signaling |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD158 | NSC141540 | 3 |
| iGMDRD248 | BRD4354 | 3 |
| iGMDRD532 | Olaparib | 3 |
| iGMDRD871 | BRD6368 | 6 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD314 | Tanespimycin | 3 |
| iGMDRD300 | Tozasertib | 3 |
| iGMDRD451 | Serdemetan | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CBFB
CLASSFICATION
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