This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]
Transcription factors with Perturb-seq knockdown data for TK2. 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 = TK2 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 TK2, 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 |
|---|---|---|---|---|
| chr16:66,269,911–66,271,163 | 279.2 kb | Distal (>10kb) Multiome | 588 | |
| chr16:66,406,327–66,407,221 | 143.1 kb | Distal (>10kb) Multiome | 614 | |
| chr16:66,426,889–66,427,792 | 122.6 kb | Distal (>10kb) Multiome | 269 | |
| chr16:66,433,312–66,434,244 | 116.1 kb | Distal (>10kb) Multiome | 678 | |
| chr16:66,549,337–66,550,427 | 9 bp | At TSS Multiome | 817 | |
| chr16:66,552,056–66,553,030 | 2.7 kb | Proximal (<10kb) Multiome | 994 | |
| chr16:66,603,736–66,605,778 | 54.8 kb | Distal (>10kb) Multiome | 907 | |
| chr16:66,608,358–66,609,044 | 58.8 kb | Distal (>10kb) Multiome | 698 | |
| chr16:66,616,501–66,617,327 | 67.0 kb | Distal (>10kb) Multiome | 204 | |
| chr16:66,695,775–66,697,411 | 147.0 kb | Distal (>10kb) Multiome | 714 | |
| chr16:66,751,110–66,752,176 | 201.9 kb | Distal (>10kb) Multiome | 734 | |
| chr16:66,830,425–66,831,324 | 281.0 kb | Distal (>10kb) Multiome | 934 | |
| chr16:66,844,097–66,844,861 | 294.6 kb | Distal (>10kb) Multiome | 211 |
Genomic view of the TK2 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.