This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for EMX2. 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 = EMX2 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 EMX2, 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 |
|---|---|---|---|---|
| chr10:117,534,258–117,535,679 | 6.8 kb | Proximal (<10kb) | 184 | |
| chr10:117,536,917–117,538,069 | 4.4 kb | Proximal (<10kb) | 255 | |
| chr10:117,541,368–117,541,582 | 861 bp | At TSS | 123 | |
| chr10:117,541,681–117,542,916 | at TSS | At TSS | 423 | |
| chr10:117,543,009–117,544,359 | 565 bp | At TSS | 323 | |
| chr10:117,545,235–117,546,743 | 2.8 kb | Proximal (<10kb) | 183 | |
| chr10:117,547,404–117,547,955 | 5.0 kb | Proximal (<10kb) | 56 | |
| chr10:117,550,690–117,551,001 | 8.2 kb | Proximal (<10kb) | 30 | |
| chr10:117,551,273–117,552,706 | 8.8 kb | Proximal (<10kb) | 291 | |
| chr10:117,553,091–117,554,142 | 9.5 kb | Proximal (<10kb) | 184 |
Genomic view of the EMX2 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.