This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for GCNT2. 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 = GCNT2 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 GCNT2, 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 |
|---|---|---|---|---|
| chr6:10,314,809–10,315,601 | 206.1 kb | Distal (>10kb) Multiome | 345 | |
| chr6:10,403,471–10,405,165 | 116.9 kb | Distal (>10kb) Multiome | 843 | |
| chr6:10,411,106–10,413,568 | 108.6 kb | Distal (>10kb) Multiome | 571 | |
| chr6:10,414,758–10,415,892 | 106.0 kb | Distal (>10kb) Multiome | 461 | |
| chr6:10,416,662–10,418,068 | 104.1 kb | Distal (>10kb) Multiome | 274 | |
| chr6:10,418,929–10,420,110 | 101.8 kb | Distal (>10kb) Multiome | 403 | |
| chr6:10,487,538–10,488,562 | 33.4 kb | Distal (>10kb) Multiome | 115 | |
| chr6:10,520,974–10,521,572 | 27 bp | At TSS Multiome | 516 | |
| chr6:10,522,743–10,523,376 | 1.4 kb | Proximal (<10kb) | 251 | |
| chr6:10,555,376–10,556,448 | 34.6 kb | Distal (>10kb) Multiome HiCAR | 264 | |
| chr6:10,557,964–10,558,140 | 2.2 kb | Proximal (<10kb) | 35 | |
| chr6:10,558,651–10,558,899 | 2.8 kb | Proximal (<10kb) | 116 | |
| chr6:10,575,366–10,576,128 | 9.6 kb | Proximal (<10kb) | 44 | |
| chr6:10,576,978–10,577,511 | 8.2 kb | Proximal (<10kb) | 90 | |
| chr6:10,582,607–10,584,703 | 61.7 kb | Distal (>10kb) Multiome | 306 | |
| chr6:10,585,189–10,585,988 | 64.3 kb | Distal (>10kb) Multiome | 131 | |
| chr6:10,586,300–10,586,635 | 541 bp | At TSS | 32 | |
| chr6:10,591,514–10,591,713 | 5.8 kb | Proximal (<10kb) | 17 | |
| chr6:10,593,858–10,594,252 | 8.1 kb | Proximal (<10kb) | 16 | |
| chr6:10,659,291–10,660,431 | 138.6 kb | Distal (>10kb) Multiome | 202 | |
| chr6:10,694,307–10,695,190 | 173.4 kb | Distal (>10kb) Multiome HiCAR | 980 | |
| chr6:10,722,577–10,723,508 | 201.7 kb | Distal (>10kb) Multiome HiCAR | 960 | |
| chr6:10,747,079–10,748,260 | 226.3 kb | Distal (>10kb) Multiome | 1006 | |
| chr6:10,837,383–10,838,947 | 317.2 kb | Distal (>10kb) Multiome | 773 | |
| chr6:10,882,510–10,883,313 | 361.7 kb | Distal (>10kb) Multiome | 144 |
Genomic view of the GCNT2 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.