This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for L2HGDH. 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 = L2HGDH 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 L2HGDH, 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 |
|---|---|---|---|---|
| chr14:50,116,214–50,116,984 | 195.6 kb | Distal (>10kb) Multiome | 818 | |
| chr14:50,231,069–50,232,486 | 80.3 kb | Distal (>10kb) Multiome | 823 | |
| chr14:50,311,389–50,313,095 | 145 bp | At TSS Multiome | 986 | |
| chr14:50,321,100–50,321,313 | 8.9 kb | Proximal (<10kb) | 457 | |
| chr14:50,396,285–50,397,366 | 84.7 kb | Distal (>10kb) Multiome | 782 | |
| chr14:50,531,734–50,533,317 | 220.5 kb | Distal (>10kb) Multiome HiCAR | 905 | |
| chr14:50,559,970–50,561,283 | 248.4 kb | Distal (>10kb) Multiome | 524 |
Genomic view of the L2HGDH 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.