The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]
Transcription factors with Perturb-seq knockdown data for MITF. 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 = MITF 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 MITF, 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 |
|---|---|---|---|---|
| chr3:69,541,656–69,543,081 | 196.8 kb | Distal (>10kb) Multiome | 397 | |
| chr3:69,730,564–69,730,893 | 8.6 kb | Proximal (<10kb) | 12 | |
| chr3:69,731,000–69,731,368 | 8.1 kb | Proximal (<10kb) | 20 | |
| chr3:69,738,944–69,740,856 | 74 bp | At TSS Multiome | 657 | |
| chr3:69,865,802–69,866,595 | at TSS | At TSS | 173 |
Genomic view of the MITF 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.