The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for PMM2. 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 = PMM2 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 PMM2, 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 |
|---|---|---|---|---|
| chr16:8,565,417–8,565,961 | 232.1 kb | Distal (>10kb) Multiome | 155 | |
| chr16:8,567,546–8,568,044 | 230.0 kb | Distal (>10kb) Multiome HiCAR | 605 | |
| chr16:8,588,655–8,589,263 | 209.0 kb | Distal (>10kb) Multiome | 96 | |
| chr16:8,621,400–8,622,171 | 176.2 kb | Distal (>10kb) Multiome | 736 | |
| chr16:8,660,694–8,661,275 | 136.8 kb | Distal (>10kb) Multiome HiCAR | 325 | |
| chr16:8,673,966–8,674,850 | 123.4 kb | Distal (>10kb) Multiome HiCAR | 585 | |
| chr16:8,797,340–8,798,108 | 115 bp | At TSS Multiome | 1028 | |
| chr16:8,831,534–8,832,572 | 34.3 kb | Distal (>10kb) Multiome | 184 | |
| chr16:8,866,241–8,867,974 | 68.8 kb | Distal (>10kb) Multiome | 680 | |
| chr16:8,868,171–8,869,530 | 71.2 kb | Distal (>10kb) Multiome | 934 | |
| chr16:8,963,706–8,964,549 | 166.2 kb | Distal (>10kb) Multiome | 663 | |
| chr16:8,965,943–8,966,445 | 168.3 kb | Distal (>10kb) Multiome | 109 | |
| chr16:9,090,006–9,092,833 | 293.6 kb | Distal (>10kb) Multiome | 1125 |
Genomic view of the PMM2 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.