Aliases for CBFB Gene
External Ids for CBFB Gene
Previous GeneCards Identifiers 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]
CBFB has been shown to be mutated in estrogen receptor positive breast cancer, although the significance of many of these mutations is yet to be determined. The CBFB-MYH11 fusion is a commonly accepted marker of favorable prognosis in acute myeloid leukemia.
GeneCards Summary for CBFB Gene
CBFB (Core-Binding Factor Beta Subunit) is a Protein Coding gene. Diseases associated with CBFB include Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16;16)(P13;Q22) and Cleidocranial Dysplasia. Among its related pathways are Dual hijack model of Vif in HIV infection and Regulation of nuclear SMAD2/3 signaling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcription coactivator activity.
UniProtKB/Swiss-Prot for CBFB Gene
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.