The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
Transcription factors with Perturb-seq knockdown data for TFAP2A. 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 = TFAP2A 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 TFAP2A, 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 |
|---|---|---|---|---|
| chr6:10,395,774–10,396,478 | 8.1 kb | Proximal (<10kb) | 134 | |
| chr6:10,398,166–10,398,903 | 5.7 kb | Proximal (<10kb) | 134 | |
| chr6:10,403,471–10,405,165 | at TSS | At TSS | 843 | |
| chr6:10,409,616–10,410,556 | 5.0 kb | Proximal (<10kb) | 170 | |
| chr6:10,411,106–10,413,568 | 6.5 kb | Proximal (<10kb) | 571 | |
| chr6:10,413,795–10,414,423 | 9.2 kb | Proximal (<10kb) | 251 | |
| chr6:10,414,758–10,415,892 | 4.7 kb | Proximal (<10kb) | 461 | |
| chr6:10,416,662–10,418,068 | 6.6 kb | Proximal (<10kb) | 274 | |
| chr6:10,418,929–10,420,110 | 8.8 kb | Proximal (<10kb) | 403 | |
| chr6:10,420,583–10,420,904 | 7.7 kb | Proximal (<10kb) | 41 | |
| chr6:10,421,125–10,422,059 | 8.2 kb | Proximal (<10kb) | 119 | |
| chr6:10,423,158–10,424,767 | 8.0 kb | Proximal (<10kb) | 342 | |
| chr6:10,425,580–10,427,086 | 8.4 kb | Proximal (<10kb) | 534 | |
| chr6:10,429,555–10,430,118 | 9.9 kb | Proximal (<10kb) | 249 |
Genomic view of the TFAP2A 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.