This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
Transcription factors with Perturb-seq knockdown data for CD320. 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 = CD320 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 CD320, 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 |
|---|---|---|---|---|
| chr19:8,028,908–8,029,518 | 279.0 kb | Distal (>10kb) Multiome | 122 | |
| chr19:8,050,174–8,051,154 | 257.6 kb | Distal (>10kb) Multiome | 467 | |
| chr19:8,148,316–8,149,986 | 158.8 kb | Distal (>10kb) Multiome | 381 | |
| chr19:8,203,277–8,204,384 | 104.4 kb | Distal (>10kb) Multiome | 150 | |
| chr19:8,208,086–8,210,178 | 99.2 kb | Distal (>10kb) Multiome | 712 | |
| chr19:8,268,737–8,269,370 | 39.3 kb | Distal (>10kb) Multiome | 272 | |
| chr19:8,304,887–8,305,125 | 3.2 kb | Proximal (<10kb) | 123 | |
| chr19:8,307,739–8,308,717 | 73 bp | At TSS Multiome | 973 | |
| chr19:8,314,738–8,315,490 | 6.7 kb | Proximal (<10kb) Multiome | 49 | |
| chr19:8,316,915–8,317,275 | 8.6 kb | Proximal (<10kb) | 81 | |
| chr19:8,320,824–8,321,811 | 13.1 kb | Distal (>10kb) Multiome | 871 | |
| chr19:8,334,500–8,335,843 | 27.0 kb | Distal (>10kb) Multiome | 384 | |
| chr19:8,342,762–8,343,678 | 35.0 kb | Distal (>10kb) Multiome | 440 | |
| chr19:8,363,586–8,364,765 | 55.7 kb | Distal (>10kb) Multiome | 549 | |
| chr19:8,389,684–8,391,548 | 81.9 kb | Distal (>10kb) Multiome | 878 | |
| chr19:8,412,769–8,413,775 | 104.8 kb | Distal (>10kb) Multiome | 566 | |
| chr19:8,444,605–8,445,806 | 136.5 kb | Distal (>10kb) Multiome | 910 | |
| chr19:8,505,742–8,506,861 | 197.9 kb | Distal (>10kb) Multiome | 739 | |
| chr19:8,511,414–8,512,588 | 203.7 kb | Distal (>10kb) Multiome | 263 | |
| chr19:8,513,025–8,514,530 | 205.6 kb | Distal (>10kb) Multiome | 825 | |
| chr19:8,525,196–8,527,085 | 217.4 kb | Distal (>10kb) Multiome | 783 | |
| chr19:8,580,484–8,581,056 | 272.6 kb | Distal (>10kb) Multiome | 535 | |
| chr19:8,591,781–8,593,224 | 284.1 kb | Distal (>10kb) Multiome | 389 |
Genomic view of the CD320 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.