The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Transcription factors with Perturb-seq knockdown data for SH3BP2. 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 = SH3BP2 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 SH3BP2, 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 |
|---|---|---|---|---|
| chr4:2,535,307–2,537,785 | 256.6 kb | Distal (>10kb) Multiome | 860 | |
| chr4:2,755,816–2,757,021 | 36.7 kb | Distal (>10kb) Multiome | 760 | |
| chr4:2,763,947–2,764,427 | 28.8 kb | Distal (>10kb) Multiome | 311 | |
| chr4:2,792,387–2,793,280 | 35 bp | At TSS Multiome | 561 | |
| chr4:2,800,892–2,801,392 | 8.1 kb | Proximal (<10kb) Multiome | 538 | |
| chr4:2,817,772–2,818,865 | 25.2 kb | Distal (>10kb) Multiome | 350 | |
| chr4:2,843,009–2,844,539 | 50.8 kb | Distal (>10kb) Multiome | 762 | |
| chr4:2,867,740–2,868,353 | 75.0 kb | Distal (>10kb) Multiome | 232 | |
| chr4:2,886,596–2,887,030 | 93.9 kb | Distal (>10kb) Multiome | 64 | |
| chr4:2,922,643–2,923,182 | 129.9 kb | Distal (>10kb) Multiome | 115 | |
| chr4:2,934,626–2,935,335 | 141.8 kb | Distal (>10kb) Multiome | 661 | |
| chr4:2,962,729–2,964,377 | 170.5 kb | Distal (>10kb) Multiome | 1035 | |
| chr4:3,073,152–3,075,706 | 281.3 kb | Distal (>10kb) Multiome | 810 |
Genomic view of the SH3BP2 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.