This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Transcription factors with Perturb-seq knockdown data for BLOC1S2. 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 = BLOC1S2 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 BLOC1S2, 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 |
|---|---|---|---|---|
| chr10:100,009,381–100,010,564 | 276.7 kb | Distal (>10kb) Multiome | 647 | |
| chr10:100,185,381–100,186,650 | 100.6 kb | Distal (>10kb) Multiome | 913 | |
| chr10:100,228,957–100,229,948 | 57.1 kb | Distal (>10kb) Multiome | 759 | |
| chr10:100,267,386–100,267,986 | 19.0 kb | Distal (>10kb) Multiome | 715 | |
| chr10:100,286,018–100,287,021 | 97 bp | At TSS Multiome | 849 | |
| chr10:100,346,401–100,347,640 | 60.2 kb | Distal (>10kb) Multiome | 919 | |
| chr10:100,359,067–100,359,724 | 72.6 kb | Distal (>10kb) Multiome | 425 | |
| chr10:100,372,854–100,374,386 | 86.8 kb | Distal (>10kb) Multiome | 964 | |
| chr10:100,481,576–100,482,049 | 195.0 kb | Distal (>10kb) Multiome | 298 | |
| chr10:100,482,268–100,483,078 | 196.1 kb | Distal (>10kb) Multiome | 497 | |
| chr10:100,485,778–100,486,586 | 199.4 kb | Distal (>10kb) Multiome | 161 | |
| chr10:100,518,832–100,519,948 | 232.8 kb | Distal (>10kb) Multiome | 417 | |
| chr10:100,529,444–100,530,236 | 243.2 kb | Distal (>10kb) Multiome | 619 | |
| chr10:100,535,502–100,536,234 | 249.2 kb | Distal (>10kb) Multiome | 759 | |
| chr10:100,561,994–100,562,629 | 275.5 kb | Distal (>10kb) Multiome | 491 |
Genomic view of the BLOC1S2 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.