The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]
Transcription factors with Perturb-seq knockdown data for PGAP2. 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 = PGAP2 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 PGAP2, 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 |
|---|---|---|---|---|
| chr11:3,580,829–3,581,470 | 216.6 kb | Distal (>10kb) Multiome | 80 | |
| chr11:3,614,331–3,614,934 | 183.3 kb | Distal (>10kb) Multiome | 150 | |
| chr11:3,641,420–3,643,023 | 155.7 kb | Distal (>10kb) Multiome | 679 | |
| chr11:3,796,972–3,798,333 | 121 bp | At TSS Multiome | 985 | |
| chr11:3,807,708–3,808,953 | 10.4 kb | Distal (>10kb) Multiome | 598 | |
| chr11:3,809,193–3,809,403 | 653 bp | At TSS | 184 | |
| chr11:3,824,581–3,825,191 | 27.0 kb | Distal (>10kb) Multiome | 332 | |
| chr11:3,840,339–3,841,901 | 43.2 kb | Distal (>10kb) Multiome | 853 | |
| chr11:3,854,400–3,856,473 | 57.3 kb | Distal (>10kb) Multiome | 929 | |
| chr11:4,094,080–4,095,334 | 296.8 kb | Distal (>10kb) Multiome | 925 |
Genomic view of the PGAP2 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.