The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Transcription factors with Perturb-seq knockdown data for GTF2IRD1. 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 = GTF2IRD1 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 GTF2IRD1, 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 |
|---|---|---|---|---|
| chr7:74,173,712–74,175,040 | 279.5 kb | Distal (>10kb) Multiome | 927 | |
| chr7:74,206,458–74,207,053 | 247.0 kb | Distal (>10kb) Multiome | 436 | |
| chr7:74,253,979–74,254,920 | 199.3 kb | Distal (>10kb) Multiome | 943 | |
| chr7:74,269,798–74,270,278 | 183.8 kb | Distal (>10kb) Multiome | 527 | |
| chr7:74,282,776–74,283,619 | 170.7 kb | Distal (>10kb) Multiome | 157 | |
| chr7:74,284,675–74,285,215 | 168.8 kb | Distal (>10kb) Multiome | 204 | |
| chr7:74,288,851–74,289,933 | 164.4 kb | Distal (>10kb) Multiome | 529 | |
| chr7:74,371,455–74,372,279 | 81.9 kb | Distal (>10kb) Multiome | 234 | |
| chr7:74,450,008–74,450,213 | 3.6 kb | Proximal (<10kb) | 230 | |
| chr7:74,453,330–74,454,656 | 44 bp | At TSS Multiome | 596 | |
| chr7:74,584,517–74,585,057 | 130.8 kb | Distal (>10kb) Multiome | 270 | |
| chr7:74,656,570–74,659,496 | 204.8 kb | Distal (>10kb) Multiome | 997 |
Genomic view of the GTF2IRD1 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.