The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015]
Transcription factors with Perturb-seq knockdown data for BCL2L1. 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 = BCL2L1 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 BCL2L1, 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 |
|---|---|---|---|---|
| chr20:31,514,040–31,515,233 | 209.5 kb | Distal (>10kb) Multiome | 1014 | |
| chr20:31,572,435–31,573,822 | 150.8 kb | Distal (>10kb) Multiome | 1193 | |
| chr20:31,595,608–31,596,479 | 128.0 kb | Distal (>10kb) Multiome | 676 | |
| chr20:31,604,042–31,606,325 | 119.8 kb | Distal (>10kb) Multiome | 1198 | |
| chr20:31,606,499–31,608,983 | 115.3 kb | Distal (>10kb) Multiome | 1081 | |
| chr20:31,612,623–31,613,367 | 111.0 kb | Distal (>10kb) Multiome | 858 | |
| chr20:31,661,610–31,662,406 | 62.2 kb | Distal (>10kb) Multiome | 836 | |
| chr20:31,693,987–31,694,929 | 29.6 kb | Distal (>10kb) Multiome | 357 | |
| chr20:31,722,556–31,724,276 | 316 bp | At TSS Multiome | 1147 | |
| chr20:31,738,777–31,739,576 | 15.2 kb | Distal (>10kb) Multiome | 923 | |
| chr20:31,822,496–31,823,111 | 99.0 kb | Distal (>10kb) Multiome | 479 | |
| chr20:31,860,463–31,862,362 | 137.8 kb | Distal (>10kb) Multiome | 627 | |
| chr20:31,870,005–31,870,863 | 146.4 kb | Distal (>10kb) Multiome | 460 | |
| chr20:31,879,388–31,880,438 | 155.9 kb | Distal (>10kb) Multiome | 900 | |
| chr20:31,951,523–31,952,606 | 228.1 kb | Distal (>10kb) Multiome | 879 | |
| chr20:31,967,880–31,968,893 | 244.5 kb | Distal (>10kb) Multiome | 1059 | |
| chr20:31,972,125–31,972,938 | 248.5 kb | Distal (>10kb) Multiome | 252 | |
| chr20:32,017,795–32,019,711 | 294.4 kb | Distal (>10kb) Multiome | 611 |
Genomic view of the BCL2L1 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.