This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]
Transcription factors with Perturb-seq knockdown data for TCF4. 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 = TCF4 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 TCF4, 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 |
|---|---|---|---|---|
| chr18:55,040,317–55,041,192 | 549.1 kb | Distal (>10kb) Multiome | 104 | |
| chr18:55,321,567–55,322,018 | at TSS | At TSS | 344 | |
| chr18:55,322,133–55,322,873 | 267.4 kb | Distal (>10kb) Multiome | 382 | |
| chr18:55,438,990–55,439,594 | 150.6 kb | Distal (>10kb) Multiome | 111 | |
| chr18:55,466,657–55,467,846 | 122.8 kb | Distal (>10kb) Multiome | 159 | |
| chr18:55,572,972–55,573,887 | 16.3 kb | Distal (>10kb) Multiome | 122 | |
| chr18:55,582,376–55,582,628 | 3.5 kb | Proximal (<10kb) | 116 | |
| chr18:55,587,477–55,588,617 | 1.7 kb | Proximal (<10kb) Multiome | 353 | |
| chr18:55,589,695–55,590,485 | 74 bp | At TSS Multiome | 572 | |
| chr18:55,747,941–55,749,345 | 158.7 kb | Distal (>10kb) Multiome | 394 | |
| chr18:56,637,964–56,639,090 | 1048.8 kb | Distal (>10kb) Multiome HiCAR | 800 | |
| chr18:56,650,881–56,651,893 | 1061.5 kb | Distal (>10kb) Multiome HiCAR | 834 |
Genomic view of the TCF4 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.