CBFB

core-binding factor subunit beta

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]

Known Variants14 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2544397242	16:67,063,389	G/T	—	pathogenic
rs8061800	16:67,063,499	G/A	—	benign
rs79560117	16:67,063,612	G/T	—	benign
rs538809858	16:67,070,623	C/T	—	uncertain significance
rs377384370	16:67,070,668	A/G	—	likely benign
rs8051487	16:67,070,862	C/T	—	benign
rs193286502	16:67,077,163	C/T	intron variant	—
rs2544454408	16:67,100,583	A/G	—	uncertain significance
rs74702191	16:67,114,330	G/A	intron variant	—
rs143119034	16:67,115,910	C/T	—	benign
rs1961582722	16:67,116,155	C/G	—	uncertain significance
rs79440925	16:67,116,355	G/A	—	benign
rs142803248	16:67,122,794	G/C	intron variant	—
rs185973558	16:67,132,635	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.