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]
Transcription factors with Perturb-seq knockdown data for CBFB. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = CBFB upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of CBFB, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr16:66,751,110–66,752,176 | 277.6 kb | Distal (>10kb) Multiome | 734 | |
| chr16:66,830,425–66,831,324 | 198.5 kb | Distal (>10kb) Multiome | 934 | |
| chr16:66,844,097–66,844,861 | 185.0 kb | Distal (>10kb) Multiome | 211 | |
| chr16:66,872,965–66,873,714 | 156.1 kb | Distal (>10kb) Multiome | 836 | |
| chr16:66,880,003–66,881,270 | 148.9 kb | Distal (>10kb) Multiome | 1020 | |
| chr16:66,924,739–66,925,515 | 104.4 kb | Distal (>10kb) Multiome | 395 | |
| chr16:66,933,957–66,934,849 | 95.0 kb | Distal (>10kb) Multiome | 931 | |
| chr16:67,000,412–67,001,423 | 28.4 kb | Distal (>10kb) Multiome | 270 | |
| chr16:67,013,778–67,014,584 | 15.3 kb | Distal (>10kb) Multiome | 594 | |
| chr16:67,017,916–67,018,379 | 11.3 kb | Distal (>10kb) Multiome | 530 | |
| chr16:67,028,567–67,029,938 | 376 bp | At TSS Multiome | 1003 | |
| chr16:67,109,102–67,110,434 | 80.4 kb | Distal (>10kb) Multiome | 895 | |
| chr16:67,149,282–67,151,406 | 121.3 kb | Distal (>10kb) Multiome HiCAR | 693 | |
| chr16:67,154,687–67,155,820 | 126.1 kb | Distal (>10kb) Multiome HiCAR | 593 | |
| chr16:67,160,628–67,161,206 | 131.6 kb | Distal (>10kb) Multiome HiCAR | 524 | |
| chr16:67,162,969–67,163,815 | 134.0 kb | Distal (>10kb) Multiome HiCAR | 238 | |
| chr16:67,169,105–67,171,287 | 140.2 kb | Distal (>10kb) Multiome HiCAR | 813 | |
| chr16:67,173,849–67,174,861 | 144.9 kb | Distal (>10kb) Multiome | 809 | |
| chr16:67,177,863–67,178,664 | 148.9 kb | Distal (>10kb) Multiome | 544 | |
| chr16:67,183,333–67,184,856 | 154.4 kb | Distal (>10kb) Multiome HiCAR | 886 | |
| chr16:67,185,256–67,185,693 | 156.2 kb | Distal (>10kb) Multiome HiCAR | 740 | |
| chr16:67,191,949–67,192,449 | 162.7 kb | Distal (>10kb) Multiome | 781 | |
| chr16:67,198,940–67,200,211 | 170.3 kb | Distal (>10kb) Multiome | 325 | |
| chr16:67,226,487–67,227,575 | 197.6 kb | Distal (>10kb) Multiome | 909 | |
| chr16:67,236,439–67,237,267 | 207.4 kb | Distal (>10kb) Multiome | 195 | |
| chr16:67,245,855–67,247,890 | 218.1 kb | Distal (>10kb) Multiome | 1077 | |
| chr16:67,248,206–67,249,338 | 219.7 kb | Distal (>10kb) Multiome | 467 | |
| chr16:67,262,177–67,262,869 | 233.1 kb | Distal (>10kb) Multiome | 24 | |
| chr16:67,278,724–67,279,792 | 250.0 kb | Distal (>10kb) Multiome | 869 | |
| chr16:67,326,413–67,327,343 | 297.4 kb | Distal (>10kb) Multiome | 585 |
Genomic view of the CBFB locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.