This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
Transcription factors with Perturb-seq knockdown data for SH2B3. 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 = SH2B3 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 SH2B3, 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 |
|---|---|---|---|---|
| chr12:111,368,490–111,369,521 | 36.8 kb | Distal (>10kb) Multiome | 663 | |
| chr12:111,396,990–111,397,432 | 8.5 kb | Proximal (<10kb) | 658 | |
| chr12:111,402,902–111,403,211 | 2.7 kb | Proximal (<10kb) | 271 | |
| chr12:111,404,305–111,407,139 | 265 bp | At TSS Multiome | 928 | |
| chr12:111,412,253–111,412,712 | 6.3 kb | Proximal (<10kb) | 163 | |
| chr12:111,597,725–111,600,125 | 193.7 kb | Distal (>10kb) Multiome | 973 | |
| chr12:111,685,452–111,686,504 | 280.1 kb | Distal (>10kb) Multiome | 858 |
Genomic view of the SH2B3 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.