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 a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
Transcription factors with Perturb-seq knockdown data for TGFB2. 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 = TGFB2 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 TGFB2, 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 |
|---|---|---|---|---|
| chr1:218,163,871–218,166,014 | 180.6 kb | Distal (>10kb) Multiome | 548 | |
| chr1:218,284,474–218,285,788 | 60.2 kb | Distal (>10kb) Multiome | 1053 | |
| chr1:218,336,121–218,336,860 | 9.4 kb | Proximal (<10kb) | 193 | |
| chr1:218,339,379–218,339,746 | 6.5 kb | Proximal (<10kb) | 99 | |
| chr1:218,341,133–218,341,815 | 4.4 kb | Proximal (<10kb) | 149 | |
| chr1:218,344,881–218,346,381 | 490 bp | At TSS Multiome | 644 | |
| chr1:218,346,696–218,348,498 | 462 bp | At TSS | 372 | |
| chr1:218,351,629–218,351,845 | 5.4 kb | Proximal (<10kb) | 133 | |
| chr1:219,173,528–219,175,437 | 828.6 kb | Distal (>10kb) Multiome HiCAR | 1021 | |
| chr1:219,834,079–219,834,880 | 1489.2 kb | Distal (>10kb) Multiome HiCAR | 136 | |
| chr1:219,839,143–219,840,267 | 1494.5 kb | Distal (>10kb) Multiome HiCAR | 246 |
Genomic view of the TGFB2 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.