This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Transcription factors with Perturb-seq knockdown data for MAN2B1. 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 = MAN2B1 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 MAN2B1, 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 |
|---|---|---|---|---|
| chr19:11,597,206–11,598,107 | 1059.9 kb | Distal (>10kb) Multiome HiCAR | 914 | |
| chr19:12,365,585–12,366,054 | 291.6 kb | Distal (>10kb) Multiome | 577 | |
| chr19:12,400,090–12,401,657 | 256.2 kb | Distal (>10kb) Multiome | 671 | |
| chr19:12,440,217–12,441,483 | 216.3 kb | Distal (>10kb) Multiome | 565 | |
| chr19:12,484,131–12,485,387 | 172.6 kb | Distal (>10kb) Multiome | 664 | |
| chr19:12,495,009–12,495,882 | 161.9 kb | Distal (>10kb) Multiome | 824 | |
| chr19:12,550,951–12,551,971 | 105.8 kb | Distal (>10kb) Multiome | 976 | |
| chr19:12,571,455–12,571,942 | 85.7 kb | Distal (>10kb) Multiome | 36 | |
| chr19:12,610,516–12,611,613 | 46.5 kb | Distal (>10kb) Multiome | 925 | |
| chr19:12,639,899–12,640,614 | 17.1 kb | Distal (>10kb) Multiome | 454 | |
| chr19:12,647,538–12,648,022 | 9.6 kb | Proximal (<10kb) Multiome | 126 | |
| chr19:12,656,871–12,657,566 | 201 bp | At TSS Multiome | 254 | |
| chr19:12,664,457–12,664,721 | 2.0 kb | Proximal (<10kb) | 64 | |
| chr19:12,666,317–12,667,225 | 9.4 kb | Proximal (<10kb) Multiome | 495 | |
| chr19:12,669,351–12,669,939 | 12.2 kb | Distal (>10kb) Multiome | 777 | |
| chr19:12,672,121–12,672,300 | 5.4 kb | Proximal (<10kb) | 206 | |
| chr19:12,676,416–12,676,669 | 9.7 kb | Proximal (<10kb) | 276 | |
| chr19:12,681,003–12,682,117 | 24.1 kb | Distal (>10kb) Multiome | 994 | |
| chr19:12,696,035–12,696,970 | 39.3 kb | Distal (>10kb) Multiome | 806 | |
| chr19:12,702,968–12,703,602 | 45.8 kb | Distal (>10kb) Multiome | 121 | |
| chr19:12,721,692–12,723,084 | 65.1 kb | Distal (>10kb) Multiome | 807 | |
| chr19:12,723,726–12,724,142 | 66.7 kb | Distal (>10kb) Multiome | 539 | |
| chr19:12,734,221–12,735,284 | 77.4 kb | Distal (>10kb) Multiome | 882 | |
| chr19:12,736,470–12,737,780 | 79.8 kb | Distal (>10kb) Multiome | 742 | |
| chr19:12,757,454–12,758,297 | 100.4 kb | Distal (>10kb) Multiome | 588 | |
| chr19:12,765,876–12,766,545 | 108.9 kb | Distal (>10kb) Multiome | 557 | |
| chr19:12,774,659–12,776,025 | 118.0 kb | Distal (>10kb) Multiome | 803 | |
| chr19:12,777,481–12,778,589 | 120.5 kb | Distal (>10kb) Multiome | 661 | |
| chr19:12,782,418–12,783,038 | 125.4 kb | Distal (>10kb) Multiome | 699 | |
| chr19:12,789,543–12,790,654 | 132.6 kb | Distal (>10kb) Multiome | 717 | |
| chr19:12,790,960–12,793,231 | 134.1 kb | Distal (>10kb) Multiome | 1015 | |
| chr19:12,793,340–12,794,240 | 136.3 kb | Distal (>10kb) Multiome | 808 | |
| chr19:12,801,120–12,802,290 | 144.5 kb | Distal (>10kb) Multiome | 901 | |
| chr19:12,806,212–12,806,984 | 149.2 kb | Distal (>10kb) Multiome | 827 | |
| chr19:12,825,565–12,826,186 | 168.4 kb | Distal (>10kb) Multiome | 436 | |
| chr19:12,832,484–12,833,101 | 175.3 kb | Distal (>10kb) Multiome | 970 | |
| chr19:12,833,638–12,834,477 | 176.6 kb | Distal (>10kb) Multiome | 310 | |
| chr19:12,838,114–12,838,869 | 181.1 kb | Distal (>10kb) Multiome | 377 | |
| chr19:12,840,071–12,841,485 | 183.5 kb | Distal (>10kb) Multiome | 391 | |
| chr19:12,847,633–12,848,090 | 190.4 kb | Distal (>10kb) Multiome | 535 | |
| chr19:12,867,327–12,868,022 | 210.3 kb | Distal (>10kb) Multiome | 315 | |
| chr19:12,872,968–12,873,990 | 216.0 kb | Distal (>10kb) Multiome | 263 | |
| chr19:12,880,834–12,881,875 | 224.1 kb | Distal (>10kb) Multiome | 656 | |
| chr19:12,884,836–12,886,381 | 228.0 kb | Distal (>10kb) Multiome | 717 | |
| chr19:12,890,614–12,891,603 | 233.6 kb | Distal (>10kb) Multiome | 841 | |
| chr19:12,913,054–12,913,584 | 256.0 kb | Distal (>10kb) Multiome | 373 | |
| chr19:12,919,018–12,919,719 | 262.0 kb | Distal (>10kb) Multiome | 732 | |
| chr19:12,933,441–12,934,086 | 276.4 kb | Distal (>10kb) Multiome | 789 | |
| chr19:12,937,426–12,939,166 | 281.1 kb | Distal (>10kb) Multiome | 943 | |
| chr19:12,945,275–12,946,647 | 288.6 kb | Distal (>10kb) Multiome | 1015 | |
| chr19:12,956,801–12,957,360 | 299.8 kb | Distal (>10kb) Multiome | 747 | |
| chr19:14,528,857–14,530,279 | 1872.1 kb | Distal (>10kb) Multiome HiCAR | 842 |
Genomic view of the MAN2B1 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.