This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]
Transcription factors with Perturb-seq knockdown data for LIFR. 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 = LIFR 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 LIFR, 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 |
|---|---|---|---|---|
| chr5:38,257,138–38,259,418 | 298.7 kb | Distal (>10kb) Multiome | 516 | |
| chr5:38,339,209–38,340,222 | 217.1 kb | Distal (>10kb) Multiome | 116 | |
| chr5:38,340,677–38,342,767 | 214.2 kb | Distal (>10kb) Multiome | 137 | |
| chr5:38,367,348–38,368,809 | 189.0 kb | Distal (>10kb) Multiome | 123 | |
| chr5:38,378,926–38,379,942 | 177.1 kb | Distal (>10kb) Multiome | 246 | |
| chr5:38,431,142–38,431,961 | 125.0 kb | Distal (>10kb) Multiome | 118 | |
| chr5:38,472,623–38,473,502 | 83.5 kb | Distal (>10kb) Multiome | 153 | |
| chr5:38,551,275–38,551,707 | 4.9 kb | Proximal (<10kb) | 133 | |
| chr5:38,553,207–38,553,469 | 3.2 kb | Proximal (<10kb) | 22 | |
| chr5:38,555,925–38,557,581 | 73 bp | At TSS Multiome | 755 | |
| chr5:38,596,850–38,597,809 | 40.6 kb | Distal (>10kb) Multiome HiCAR | 175 | |
| chr5:38,598,289–38,600,592 | 42.2 kb | Distal (>10kb) Multiome HiCAR | 274 | |
| chr5:38,602,629–38,603,182 | 46.2 kb | Distal (>10kb) Multiome | 77 | |
| chr5:38,809,383–38,810,097 | 253.3 kb | Distal (>10kb) Multiome HiCAR | 352 | |
| chr5:38,844,903–38,847,060 | 289.3 kb | Distal (>10kb) Multiome | 868 |
Genomic view of the LIFR 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.