The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
Transcription factors with Perturb-seq knockdown data for SMAD2. 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 = SMAD2 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 SMAD2, 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 |
|---|---|---|---|---|
| chr18:47,748,983–47,749,659 | 181.6 kb | Distal (>10kb) Multiome | 523 | |
| chr18:47,888,213–47,888,747 | 42.3 kb | Distal (>10kb) Multiome | 112 | |
| chr18:47,899,238–47,900,034 | 31.3 kb | Distal (>10kb) Multiome | 78 | |
| chr18:47,901,678–47,902,259 | 28.9 kb | Distal (>10kb) Multiome | 164 | |
| chr18:47,926,327–47,927,065 | 4.3 kb | Proximal (<10kb) Multiome | 121 | |
| chr18:47,929,853–47,932,097 | 291 bp | At TSS Multiome | 1041 | |
| chr18:47,967,733–47,968,520 | 37.3 kb | Distal (>10kb) Multiome | 183 | |
| chr18:47,975,686–47,976,326 | 45.2 kb | Distal (>10kb) Multiome | 79 | |
| chr18:48,007,721–48,008,967 | 77.5 kb | Distal (>10kb) Multiome HiCAR | 431 | |
| chr18:48,161,014–48,162,366 | 230.9 kb | Distal (>10kb) Multiome | 453 |
Genomic view of the SMAD2 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.