This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]
Transcription factors with Perturb-seq knockdown data for BOLA3. 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 = BOLA3 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 BOLA3, 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 |
|---|---|---|---|---|
| chr2:73,828,734–73,829,492 | 318.9 kb | Distal (>10kb) Multiome HiCAR | 774 | |
| chr2:73,921,096–73,921,666 | 226.5 kb | Distal (>10kb) Multiome HiCAR | 284 | |
| chr2:73,926,648–73,927,193 | 221.0 kb | Distal (>10kb) Multiome HiCAR | 961 | |
| chr2:73,981,145–73,981,910 | 166.3 kb | Distal (>10kb) Multiome HiCAR | 483 | |
| chr2:73,983,451–73,985,871 | 162.6 kb | Distal (>10kb) Multiome HiCAR | 821 | |
| chr2:74,002,059–74,003,348 | 145.2 kb | Distal (>10kb) Multiome HiCAR | 514 | |
| chr2:74,008,705–74,009,321 | 139.0 kb | Distal (>10kb) Multiome HiCAR | 142 | |
| chr2:74,026,198–74,026,578 | 121.5 kb | Distal (>10kb) Multiome | 88 | |
| chr2:74,119,987–74,120,643 | 27.6 kb | Distal (>10kb) Multiome | 969 | |
| chr2:74,147,573–74,148,843 | 102 bp | At TSS Multiome | 884 | |
| chr2:74,178,147–74,179,324 | 31.0 kb | Distal (>10kb) Multiome | 869 | |
| chr2:74,187,993–74,188,519 | 40.3 kb | Distal (>10kb) Multiome | 192 | |
| chr2:74,198,074–74,199,486 | 50.6 kb | Distal (>10kb) Multiome | 1098 | |
| chr2:74,261,293–74,261,813 | 113.7 kb | Distal (>10kb) Multiome | 184 | |
| chr2:74,374,253–74,375,246 | 226.8 kb | Distal (>10kb) Multiome | 158 | |
| chr2:74,379,653–74,380,438 | 232.1 kb | Distal (>10kb) Multiome | 229 | |
| chr2:74,391,129–74,392,484 | 244.0 kb | Distal (>10kb) Multiome | 876 | |
| chr2:74,421,273–74,422,464 | 273.8 kb | Distal (>10kb) Multiome | 756 | |
| chr2:74,426,172–74,426,842 | 278.7 kb | Distal (>10kb) Multiome | 88 | |
| chr2:74,440,246–74,442,723 | 294.2 kb | Distal (>10kb) Multiome | 1050 |
Genomic view of the BOLA3 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.