This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Transcription factors with Perturb-seq knockdown data for EARS2. 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 = EARS2 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 EARS2, 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 |
|---|---|---|---|---|
| chr16:23,452,612–23,453,515 | 104.4 kb | Distal (>10kb) Multiome | 1008 | |
| chr16:23,509,880–23,510,853 | 46.9 kb | Distal (>10kb) Multiome | 947 | |
| chr16:23,557,038–23,558,356 | 170 bp | At TSS Multiome | 1119 | |
| chr16:23,595,873–23,596,693 | 39.0 kb | Distal (>10kb) Multiome | 938 | |
| chr16:23,640,088–23,640,480 | 82.8 kb | Distal (>10kb) Multiome | 169 | |
| chr16:23,641,019–23,641,779 | 84.1 kb | Distal (>10kb) Multiome | 1055 | |
| chr16:23,678,415–23,679,119 | 121.4 kb | Distal (>10kb) Multiome | 878 | |
| chr16:23,694,678–23,695,256 | 137.7 kb | Distal (>10kb) Multiome | 456 | |
| chr16:23,835,511–23,836,674 | 278.5 kb | Distal (>10kb) Multiome | 420 |
Genomic view of the EARS2 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.