Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
Transcription factors with Perturb-seq knockdown data for HARS2. 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 = HARS2 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 HARS2, 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 |
|---|---|---|---|---|
| chr5:140,400,395–140,402,925 | 289.9 kb | Distal (>10kb) Multiome | 1129 | |
| chr5:140,546,917–140,548,500 | 143.8 kb | Distal (>10kb) Multiome | 784 | |
| chr5:140,556,971–140,557,959 | 134.0 kb | Distal (>10kb) Multiome | 886 | |
| chr5:140,564,055–140,565,123 | 126.8 kb | Distal (>10kb) Multiome | 827 | |
| chr5:140,639,043–140,640,146 | 52.0 kb | Distal (>10kb) Multiome | 898 | |
| chr5:140,647,175–140,648,159 | 43.7 kb | Distal (>10kb) Multiome | 863 | |
| chr5:140,664,368–140,665,161 | 26.7 kb | Distal (>10kb) Multiome | 856 | |
| chr5:140,673,200–140,673,759 | 17.9 kb | Distal (>10kb) Multiome | 144 | |
| chr5:140,691,053–140,691,933 | 48 bp | At TSS Multiome | 924 | |
| chr5:140,696,939–140,697,394 | 5.5 kb | Proximal (<10kb) | 21 | |
| chr5:140,699,981–140,700,742 | 8.9 kb | Proximal (<10kb) Multiome | 607 | |
| chr5:140,710,433–140,711,671 | 19.6 kb | Distal (>10kb) Multiome | 856 | |
| chr5:140,718,340–140,718,978 | 27.2 kb | Distal (>10kb) Multiome | 763 | |
| chr5:140,725,570–140,726,438 | 34.5 kb | Distal (>10kb) Multiome | 719 | |
| chr5:140,925,961–140,927,592 | 235.1 kb | Distal (>10kb) Multiome | 419 | |
| chr5:140,965,919–140,967,712 | 275.2 kb | Distal (>10kb) Multiome | 368 |
Genomic view of the HARS2 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.