This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]
Transcription factors with Perturb-seq knockdown data for NKX2-1. 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 = NKX2-1 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 NKX2-1, 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 |
|---|---|---|---|---|
| chr14:36,510,281–36,510,748 | 8.9 kb | Proximal (<10kb) | 44 | |
| chr14:36,512,403–36,513,922 | 5.8 kb | Proximal (<10kb) | 230 | |
| chr14:36,515,024–36,515,174 | 4.5 kb | Proximal (<10kb) | 37 | |
| chr14:36,517,184–36,521,366 | at TSS | At TSS | 575 | |
| chr14:36,521,722–36,522,009 | 2.0 kb | Proximal (<10kb) | 72 | |
| chr14:36,522,279–36,522,938 | 2.6 kb | Proximal (<10kb) | 65 | |
| chr14:36,524,258–36,524,418 | 4.6 kb | Proximal (<10kb) | 53 | |
| chr14:36,524,671–36,525,867 | 5.0 kb | Proximal (<10kb) | 355 |
Genomic view of the NKX2-1 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.