The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for MTHFR. 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 = MTHFR 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 MTHFR, 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 |
|---|---|---|---|---|
| chr1:11,563,348–11,564,005 | 239.7 kb | Distal (>10kb) Multiome | 272 | |
| chr1:11,650,273–11,650,925 | 152.8 kb | Distal (>10kb) Multiome | 495 | |
| chr1:11,653,905–11,655,506 | 148.6 kb | Distal (>10kb) Multiome | 476 | |
| chr1:11,663,895–11,664,883 | 139.1 kb | Distal (>10kb) Multiome | 644 | |
| chr1:11,680,428–11,681,928 | 122.2 kb | Distal (>10kb) Multiome | 820 | |
| chr1:11,682,348–11,682,757 | 120.7 kb | Distal (>10kb) Multiome | 94 | |
| chr1:11,690,815–11,692,563 | 111.7 kb | Distal (>10kb) Multiome | 361 | |
| chr1:11,735,752–11,736,686 | 67.2 kb | Distal (>10kb) Multiome | 714 | |
| chr1:11,784,926–11,785,439 | 18.1 kb | Distal (>10kb) Multiome | 531 | |
| chr1:11,802,827–11,804,002 | 229 bp | At TSS Multiome | 507 | |
| chr1:11,805,133–11,806,702 | 2.7 kb | Proximal (<10kb) Multiome | 1034 | |
| chr1:11,876,145–11,876,721 | 73.1 kb | Distal (>10kb) Multiome | 56 | |
| chr1:11,907,175–11,910,389 | 105.1 kb | Distal (>10kb) Multiome | 1299 | |
| chr1:11,925,969–11,926,788 | 123.1 kb | Distal (>10kb) Multiome | 632 | |
| chr1:11,934,261–11,935,008 | 131.3 kb | Distal (>10kb) Multiome | 809 | |
| chr1:11,979,601–11,980,894 | 176.9 kb | Distal (>10kb) Multiome | 932 | |
| chr1:12,019,010–12,020,110 | 216.0 kb | Distal (>10kb) Multiome | 841 | |
| chr1:12,049,082–12,050,305 | 246.5 kb | Distal (>10kb) Multiome | 142 | |
| chr1:12,067,600–12,068,080 | 264.5 kb | Distal (>10kb) Multiome | 128 | |
| chr1:12,078,792–12,079,863 | 276.3 kb | Distal (>10kb) Multiome | 281 |
Genomic view of the MTHFR 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.