This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for MSX2. 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 = MSX2 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 MSX2, 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 |
|---|---|---|---|---|
| chr5:174,337,216–174,338,119 | 386.9 kb | Distal (>10kb) Multiome HiCAR | 161 | |
| chr5:174,419,108–174,419,879 | 304.9 kb | Distal (>10kb) Multiome HiCAR | 411 | |
| chr5:174,425,721–174,426,822 | 298.5 kb | Distal (>10kb) Multiome HiCAR | 121 | |
| chr5:174,520,242–174,520,957 | 204.0 kb | Distal (>10kb) Multiome | 312 | |
| chr5:174,532,420–174,533,094 | 191.8 kb | Distal (>10kb) Multiome | 557 | |
| chr5:174,618,170–174,619,118 | 105.9 kb | Distal (>10kb) Multiome | 166 | |
| chr5:174,692,956–174,693,590 | 31.3 kb | Distal (>10kb) Multiome | 245 | |
| chr5:174,718,149–174,718,524 | 6.1 kb | Proximal (<10kb) | 66 | |
| chr5:174,719,921–174,721,697 | 3.4 kb | Proximal (<10kb) Multiome | 369 | |
| chr5:174,723,922–174,725,281 | 63 bp | At TSS Multiome | 443 | |
| chr5:174,725,885–174,726,052 | 1.3 kb | Proximal (<10kb) | 44 | |
| chr5:174,726,212–174,726,912 | 1.9 kb | Proximal (<10kb) Multiome | 73 | |
| chr5:174,733,156–174,733,366 | 8.6 kb | Proximal (<10kb) | 52 | |
| chr5:174,735,335–174,736,623 | 11.4 kb | Distal (>10kb) Multiome | 338 | |
| chr5:174,793,746–174,794,221 | 69.3 kb | Distal (>10kb) Multiome | 321 | |
| chr5:174,910,260–174,910,733 | 185.9 kb | Distal (>10kb) Multiome | 200 |
Genomic view of the MSX2 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.