The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
Transcription factors with Perturb-seq knockdown data for NBEAL2. 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 = NBEAL2 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 NBEAL2, 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 |
|---|---|---|---|---|
| chr3:46,692,995–46,694,167 | 286.0 kb | Distal (>10kb) Multiome | 390 | |
| chr3:46,704,956–46,705,522 | 274.4 kb | Distal (>10kb) Multiome | 281 | |
| chr3:46,811,739–46,812,895 | 167.2 kb | Distal (>10kb) Multiome | 322 | |
| chr3:46,829,727–46,830,265 | 149.7 kb | Distal (>10kb) Multiome | 58 | |
| chr3:46,845,393–46,846,375 | 133.7 kb | Distal (>10kb) Multiome | 489 | |
| chr3:46,881,541–46,883,129 | 97.9 kb | Distal (>10kb) Multiome | 257 | |
| chr3:46,892,261–46,893,159 | 87.0 kb | Distal (>10kb) Multiome | 297 | |
| chr3:46,909,425–46,910,035 | 69.9 kb | Distal (>10kb) Multiome | 394 | |
| chr3:46,948,015–46,948,666 | 31.3 kb | Distal (>10kb) Multiome | 529 | |
| chr3:46,976,068–46,977,401 | 2.9 kb | Proximal (<10kb) Multiome | 857 | |
| chr3:46,979,117–46,980,211 | 13 bp | At TSS Multiome | 777 | |
| chr3:46,987,364–46,988,143 | 8.0 kb | Proximal (<10kb) Multiome | 452 | |
| chr3:46,998,405–46,998,990 | 19.0 kb | Distal (>10kb) Multiome | 400 | |
| chr3:47,008,983–47,010,119 | 29.8 kb | Distal (>10kb) Multiome | 328 | |
| chr3:47,024,824–47,025,334 | 45.4 kb | Distal (>10kb) Multiome | 51 | |
| chr3:47,163,333–47,164,907 | 184.5 kb | Distal (>10kb) Multiome | 981 |
Genomic view of the NBEAL2 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.