Enables GTPase activator activity. Involved in cellular response to amino acid starvation; negative regulation of TORC1 signaling; and negative regulation of kinase activity. Part of GATOR1 complex. Is active in lysosomal membrane. Implicated in familial focal epilepsy with variable foci 2. [provided by Alliance of Genome Resources, Jul 2025]
Transcription factors with Perturb-seq knockdown data for NPRL2. 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 = NPRL2 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 NPRL2, 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 |
|---|---|---|---|---|
| chr3:50,088,748–50,089,596 | 261.9 kb | Distal (>10kb) Multiome | 677 | |
| chr3:50,121,279–50,122,037 | 229.1 kb | Distal (>10kb) Multiome | 364 | |
| chr3:50,138,509–50,140,035 | 211.4 kb | Distal (>10kb) Multiome | 198 | |
| chr3:50,154,437–50,155,741 | 195.8 kb | Distal (>10kb) Multiome | 450 | |
| chr3:50,204,913–50,205,545 | 145.6 kb | Distal (>10kb) Multiome | 367 | |
| chr3:50,205,645–50,206,357 | 144.6 kb | Distal (>10kb) Multiome | 347 | |
| chr3:50,226,120–50,228,328 | 124.6 kb | Distal (>10kb) Multiome | 915 | |
| chr3:50,235,551–50,236,824 | 114.8 kb | Distal (>10kb) Multiome | 632 | |
| chr3:50,240,985–50,241,805 | 109.5 kb | Distal (>10kb) Multiome | 137 | |
| chr3:50,245,721–50,247,161 | 104.5 kb | Distal (>10kb) Multiome | 671 | |
| chr3:50,259,568–50,260,922 | 90.6 kb | Distal (>10kb) Multiome | 869 | |
| chr3:50,264,309–50,265,446 | 86.0 kb | Distal (>10kb) Multiome | 568 | |
| chr3:50,275,163–50,276,639 | 74.3 kb | Distal (>10kb) Multiome | 151 | |
| chr3:50,291,628–50,292,796 | 58.3 kb | Distal (>10kb) Multiome | 855 | |
| chr3:50,298,495–50,300,110 | 51.3 kb | Distal (>10kb) Multiome | 872 | |
| chr3:50,303,363–50,303,840 | 47.1 kb | Distal (>10kb) Multiome | 484 | |
| chr3:50,320,603–50,322,739 | 29.2 kb | Distal (>10kb) Multiome | 816 | |
| chr3:50,324,456–50,325,020 | 26.0 kb | Distal (>10kb) Multiome | 392 | |
| chr3:50,327,933–50,328,581 | 22.5 kb | Distal (>10kb) Multiome | 697 | |
| chr3:50,336,856–50,338,227 | 13.2 kb | Distal (>10kb) Multiome | 952 | |
| chr3:50,340,624–50,341,322 | 9.9 kb | Proximal (<10kb) Multiome HiCAR | 345 | |
| chr3:50,345,443–50,346,042 | 5.0 kb | Proximal (<10kb) Multiome | 209 | |
| chr3:50,350,496–50,351,298 | 162 bp | At TSS Multiome | 902 | |
| chr3:50,358,889–50,360,012 | 8.8 kb | Proximal (<10kb) Multiome | 796 | |
| chr3:50,364,552–50,365,867 | 14.5 kb | Distal (>10kb) Multiome | 331 | |
| chr3:50,435,932–50,436,533 | 85.4 kb | Distal (>10kb) Multiome | 248 | |
| chr3:50,502,505–50,504,160 | 152.9 kb | Distal (>10kb) Multiome | 312 | |
| chr3:50,567,311–50,568,123 | 216.9 kb | Distal (>10kb) Multiome HiCAR | 376 | |
| chr3:50,568,824–50,569,934 | 218.5 kb | Distal (>10kb) Multiome HiCAR | 901 | |
| chr3:50,611,315–50,612,530 | 261.2 kb | Distal (>10kb) Multiome | 904 | |
| chr3:50,615,997–50,617,867 | 266.3 kb | Distal (>10kb) Multiome | 754 | |
| chr3:51,390,699–51,392,749 | 1040.4 kb | Distal (>10kb) Multiome HiCAR | 824 |
Genomic view of the NPRL2 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.