This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for D2HGDH. 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 = D2HGDH 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 D2HGDH, 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 |
|---|---|---|---|---|
| chr2:241,507,257–241,509,444 | 225.9 kb | Distal (>10kb) Multiome | 1050 | |
| chr2:241,540,846–241,542,485 | 193.3 kb | Distal (>10kb) Multiome | 394 | |
| chr2:241,558,542–241,559,899 | 175.8 kb | Distal (>10kb) Multiome | 638 | |
| chr2:241,609,833–241,610,860 | 124.2 kb | Distal (>10kb) Multiome | 755 | |
| chr2:241,636,378–241,638,145 | 97.2 kb | Distal (>10kb) Multiome | 934 | |
| chr2:241,686,350–241,687,468 | 47.7 kb | Distal (>10kb) Multiome | 895 | |
| chr2:241,701,038–241,703,402 | 33.2 kb | Distal (>10kb) Multiome | 1081 | |
| chr2:241,734,032–241,735,695 | 42 bp | At TSS Multiome | 977 | |
| chr2:241,843,948–241,844,465 | 109.6 kb | Distal (>10kb) Multiome | 429 | |
| chr2:241,880,851–241,882,624 | 147.1 kb | Distal (>10kb) Multiome | 665 | |
| chr2:241,950,625–241,951,263 | 216.4 kb | Distal (>10kb) Multiome | 367 |
Genomic view of the D2HGDH 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.