This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]
Transcription factors with Perturb-seq knockdown data for SPTLC2. 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 = SPTLC2 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 SPTLC2, 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 |
|---|---|---|---|---|
| chr14:77,320,198–77,322,121 | 295.5 kb | Distal (>10kb) Multiome | 915 | |
| chr14:77,376,423–77,377,683 | 239.5 kb | Distal (>10kb) Multiome | 630 | |
| chr14:77,456,961–77,458,831 | 158.9 kb | Distal (>10kb) Multiome | 878 | |
| chr14:77,498,012–77,499,509 | 117.8 kb | Distal (>10kb) Multiome | 599 | |
| chr14:77,607,991–77,608,185 | 8.5 kb | Proximal (<10kb) | 117 | |
| chr14:77,615,862–77,617,380 | 207 bp | At TSS Multiome | 892 | |
| chr14:77,654,873–77,655,664 | 38.6 kb | Distal (>10kb) Multiome | 287 | |
| chr14:77,707,585–77,708,371 | 91.4 kb | Distal (>10kb) Multiome | 744 | |
| chr14:77,760,384–77,761,929 | 144.4 kb | Distal (>10kb) Multiome | 755 | |
| chr14:77,799,937–77,800,798 | 183.6 kb | Distal (>10kb) Multiome | 865 |
Genomic view of the SPTLC2 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.