This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for RARS2. 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 = RARS2 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 RARS2, 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 |
|---|---|---|---|---|
| chr6:87,322,367–87,323,025 | 267.4 kb | Distal (>10kb) Multiome | 892 | |
| chr6:87,407,486–87,408,928 | 181.8 kb | Distal (>10kb) Multiome | 735 | |
| chr6:87,472,409–87,473,809 | 116.9 kb | Distal (>10kb) Multiome | 913 | |
| chr6:87,483,840–87,484,329 | 105.8 kb | Distal (>10kb) Multiome | 125 | |
| chr6:87,551,523–87,552,511 | 38.2 kb | Distal (>10kb) Multiome | 64 | |
| chr6:87,589,655–87,590,489 | 66 bp | At TSS Multiome | 803 | |
| chr6:87,594,480–87,594,695 | 4.5 kb | Proximal (<10kb) | 7 | |
| chr6:87,700,848–87,703,142 | 112.4 kb | Distal (>10kb) Multiome | 974 |
Genomic view of the RARS2 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.