The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Transcription factors with Perturb-seq knockdown data for SMAD7. 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 = SMAD7 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 SMAD7, 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 |
|---|---|---|---|---|
| chr18:48,776,915–48,777,546 | 171.3 kb | Distal (>10kb) Multiome HiCAR | 356 | |
| chr18:48,802,644–48,803,302 | 145.5 kb | Distal (>10kb) Multiome | 62 | |
| chr18:48,948,073–48,948,351 | 153 bp | At TSS | 125 | |
| chr18:48,948,448–48,949,392 | 146 bp | At TSS Multiome | 699 | |
| chr18:48,949,854–48,950,864 | 1.3 kb | Proximal (<10kb) | 465 | |
| chr18:48,951,393–48,953,299 | 3.7 kb | Proximal (<10kb) Multiome | 824 | |
| chr18:48,959,553–48,960,608 | 11.5 kb | Distal (>10kb) Multiome | 373 | |
| chr18:48,975,259–48,976,821 | 27.6 kb | Distal (>10kb) Multiome | 578 | |
| chr18:49,021,444–49,022,101 | 73.3 kb | Distal (>10kb) Multiome | 464 | |
| chr18:49,252,346–49,252,812 | 304.0 kb | Distal (>10kb) Multiome HiCAR | 15 | |
| chr18:49,460,079–49,460,928 | 512.2 kb | Distal (>10kb) Multiome HiCAR | 871 |
Genomic view of the SMAD7 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.