This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]
Transcription factors with Perturb-seq knockdown data for ME2. 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 = ME2 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 ME2, 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 |
|---|---|---|---|---|
| chr18:50,748,143–50,748,985 | 130.5 kb | Distal (>10kb) Multiome | 312 | |
| chr18:50,784,562–50,785,070 | 94.2 kb | Distal (>10kb) Multiome | 166 | |
| chr18:50,806,171–50,806,699 | 72.6 kb | Distal (>10kb) Multiome | 252 | |
| chr18:50,819,413–50,820,437 | 59.0 kb | Distal (>10kb) Multiome | 590 | |
| chr18:50,876,090–50,876,355 | 2.7 kb | Proximal (<10kb) | 17 | |
| chr18:50,878,372–50,880,419 | 1.0 kb | Proximal (<10kb) Multiome | 895 | |
| chr18:50,899,511–50,900,194 | 20.8 kb | Distal (>10kb) Multiome | 71 | |
| chr18:50,967,806–50,968,647 | 89.0 kb | Distal (>10kb) Multiome | 840 | |
| chr18:50,992,154–50,992,773 | 113.5 kb | Distal (>10kb) Multiome | 86 | |
| chr18:51,006,448–51,007,439 | 128.0 kb | Distal (>10kb) Multiome | 157 | |
| chr18:51,029,502–51,031,292 | 151.1 kb | Distal (>10kb) Multiome | 813 | |
| chr18:51,110,028–51,110,847 | 231.5 kb | Distal (>10kb) Multiome | 407 | |
| chr18:51,167,965–51,168,697 | 289.2 kb | Distal (>10kb) Multiome | 104 |
Genomic view of the ME2 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.