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, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]
Transcription factors with Perturb-seq knockdown data for BMP2. 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 = BMP2 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 BMP2, 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 |
|---|---|---|---|---|
| chr20:6,707,401–6,711,064 | 59.5 kb | Distal (>10kb) Multiome | 409 | |
| chr20:6,765,573–6,765,925 | 1.8 kb | Proximal (<10kb) | 81 | |
| chr20:6,767,202–6,771,161 | 32 bp | At TSS Multiome | 584 | |
| chr20:6,810,970–6,812,079 | 43.7 kb | Distal (>10kb) Multiome | 169 | |
| chr20:6,848,116–6,849,745 | 81.4 kb | Distal (>10kb) Multiome | 200 | |
| chr20:6,943,637–6,944,364 | 176.3 kb | Distal (>10kb) Multiome | 153 |
Genomic view of the BMP2 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.