This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]
Transcription factors with Perturb-seq knockdown data for BMP4. 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 = BMP4 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 BMP4, 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 |
|---|---|---|---|---|
| chr14:53,698,027–53,699,050 | 258.2 kb | Distal (>10kb) Multiome | 33 | |
| chr14:53,946,269–53,947,266 | 9.6 kb | Proximal (<10kb) | 247 | |
| chr14:53,951,617–53,954,877 | 3.3 kb | Proximal (<10kb) Multiome | 646 | |
| chr14:53,954,985–53,955,145 | 1.7 kb | Proximal (<10kb) | 175 | |
| chr14:53,955,635–53,957,282 | 20 bp | At TSS Multiome | 747 | |
| chr14:53,963,452–53,964,181 | 6.6 kb | Proximal (<10kb) | 208 | |
| chr14:53,964,297–53,964,485 | 7.5 kb | Proximal (<10kb) | 19 | |
| chr14:54,187,126–54,188,017 | 230.8 kb | Distal (>10kb) Multiome HiCAR | 54 | |
| chr14:54,291,237–54,292,121 | 334.8 kb | Distal (>10kb) Multiome HiCAR | 321 |
Genomic view of the BMP4 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.