Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for DGCR2. 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 = DGCR2 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 DGCR2, 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 |
|---|---|---|---|---|
| chr22:18,970,147–18,971,015 | 152.0 kb | Distal (>10kb) Multiome | 277 | |
| chr22:19,116,923–19,117,513 | 5.3 kb | Proximal (<10kb) Multiome | 54 | |
| chr22:19,121,544–19,123,310 | 127 bp | At TSS Multiome | 690 | |
| chr22:19,144,380–19,144,950 | 22.3 kb | Distal (>10kb) Multiome | 696 | |
| chr22:19,149,463–19,150,252 | 27.2 kb | Distal (>10kb) Multiome | 173 | |
| chr22:19,169,265–19,169,982 | 47.3 kb | Distal (>10kb) Multiome | 285 | |
| chr22:19,170,964–19,172,196 | 49.2 kb | Distal (>10kb) Multiome | 819 | |
| chr22:19,177,562–19,180,087 | 56.4 kb | Distal (>10kb) Multiome | 875 | |
| chr22:19,290,875–19,292,389 | 169.4 kb | Distal (>10kb) Multiome | 854 |
Genomic view of the DGCR2 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.