This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for NPC2. 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 = NPC2 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 NPC2, 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 |
|---|---|---|---|---|
| chr14:74,257,088–74,257,807 | 235.7 kb | Distal (>10kb) Multiome | 415 | |
| chr14:74,302,423–74,303,735 | 190.3 kb | Distal (>10kb) Multiome | 863 | |
| chr14:74,326,054–74,327,644 | 166.5 kb | Distal (>10kb) Multiome | 320 | |
| chr14:74,347,561–74,349,516 | 144.7 kb | Distal (>10kb) Multiome HiCAR | 231 | |
| chr14:74,362,136–74,363,080 | 130.8 kb | Distal (>10kb) Multiome HiCAR | 318 | |
| chr14:74,392,794–74,393,544 | 100.1 kb | Distal (>10kb) Multiome | 159 | |
| chr14:74,417,196–74,418,934 | 75.4 kb | Distal (>10kb) Multiome | 153 | |
| chr14:74,425,677–74,426,474 | 67.3 kb | Distal (>10kb) Multiome | 342 | |
| chr14:74,442,382–74,443,260 | 50.7 kb | Distal (>10kb) Multiome | 53 | |
| chr14:74,470,530–74,471,370 | 22.5 kb | Distal (>10kb) Multiome | 31 | |
| chr14:74,492,014–74,492,367 | 979 bp | At TSS | 103 | |
| chr14:74,492,838–74,494,443 | 194 bp | At TSS Multiome | 820 | |
| chr14:74,500,815–74,501,591 | 7.8 kb | Proximal (<10kb) Multiome | 179 | |
| chr14:74,502,260–74,502,428 | 8.9 kb | Proximal (<10kb) | 54 | |
| chr14:74,611,325–74,612,912 | 119.3 kb | Distal (>10kb) Multiome | 552 | |
| chr14:74,620,601–74,621,179 | 127.5 kb | Distal (>10kb) Multiome | 257 | |
| chr14:74,763,078–74,763,795 | 270.0 kb | Distal (>10kb) Multiome | 808 |
Genomic view of the NPC2 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.