This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]
Transcription factors with Perturb-seq knockdown data for IGF2R. 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 = IGF2R 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 IGF2R, 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 |
|---|---|---|---|---|
| chr6:159,692,373–159,694,256 | 275.7 kb | Distal (>10kb) Multiome | 1061 | |
| chr6:159,726,454–159,728,172 | 241.8 kb | Distal (>10kb) Multiome | 1218 | |
| chr6:159,761,181–159,763,111 | 206.9 kb | Distal (>10kb) Multiome | 1026 | |
| chr6:159,788,809–159,791,272 | 179.3 kb | Distal (>10kb) Multiome | 1073 | |
| chr6:159,965,544–159,965,751 | 3.3 kb | Proximal (<10kb) | 5 | |
| chr6:159,968,449–159,970,213 | 95 bp | At TSS Multiome | 961 | |
| chr6:159,978,751–159,979,875 | 9.7 kb | Proximal (<10kb) | 438 | |
| chr6:160,226,067–160,227,928 | 258.1 kb | Distal (>10kb) Multiome | 133 | |
| chr6:160,239,954–160,240,660 | 271.5 kb | Distal (>10kb) Multiome | 51 |
Genomic view of the IGF2R 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.