This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
Transcription factors with Perturb-seq knockdown data for STXBP2. 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 = STXBP2 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 STXBP2, 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 |
|---|---|---|---|---|
| chr19:7,394,774–7,395,629 | 242.0 kb | Distal (>10kb) Multiome | 601 | |
| chr19:7,482,657–7,483,489 | 154.0 kb | Distal (>10kb) Multiome | 201 | |
| chr19:7,488,712–7,489,463 | 148.1 kb | Distal (>10kb) Multiome | 542 | |
| chr19:7,500,843–7,501,401 | 135.9 kb | Distal (>10kb) Multiome | 556 | |
| chr19:7,505,850–7,507,270 | 130.6 kb | Distal (>10kb) Multiome | 516 | |
| chr19:7,507,812–7,508,356 | 129.0 kb | Distal (>10kb) Multiome | 168 | |
| chr19:7,522,263–7,523,208 | 114.5 kb | Distal (>10kb) Multiome | 917 | |
| chr19:7,533,976–7,536,472 | 103.1 kb | Distal (>10kb) Multiome | 882 | |
| chr19:7,550,673–7,551,762 | 85.7 kb | Distal (>10kb) Multiome | 377 | |
| chr19:7,554,651–7,555,821 | 81.8 kb | Distal (>10kb) Multiome | 224 | |
| chr19:7,595,485–7,596,417 | 41.3 kb | Distal (>10kb) Multiome | 405 | |
| chr19:7,629,285–7,629,891 | 7.4 kb | Proximal (<10kb) Multiome | 650 | |
| chr19:7,636,753–7,637,571 | 26 bp | At TSS Multiome | 689 | |
| chr19:7,680,480–7,681,546 | 43.7 kb | Distal (>10kb) Multiome | 679 | |
| chr19:7,829,238–7,830,666 | 192.8 kb | Distal (>10kb) Multiome | 621 | |
| chr19:7,853,168–7,853,781 | 216.4 kb | Distal (>10kb) Multiome | 747 | |
| chr19:7,861,607–7,864,383 | 225.6 kb | Distal (>10kb) Multiome | 348 | |
| chr19:7,868,454–7,870,252 | 232.3 kb | Distal (>10kb) Multiome | 721 | |
| chr19:7,871,072–7,872,772 | 235.0 kb | Distal (>10kb) Multiome | 487 | |
| chr19:7,873,962–7,875,061 | 237.5 kb | Distal (>10kb) Multiome | 416 | |
| chr19:7,888,334–7,888,798 | 251.4 kb | Distal (>10kb) Multiome | 509 | |
| chr19:7,902,730–7,904,931 | 266.6 kb | Distal (>10kb) Multiome | 1000 | |
| chr19:7,917,358–7,918,182 | 280.8 kb | Distal (>10kb) Multiome | 316 | |
| chr19:7,919,934–7,921,640 | 283.5 kb | Distal (>10kb) Multiome | 802 | |
| chr19:7,924,612–7,926,698 | 288.1 kb | Distal (>10kb) Multiome | 766 |
Genomic view of the STXBP2 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.