The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
Transcription factors with Perturb-seq knockdown data for LEPR. 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 = LEPR 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 LEPR, 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 |
|---|---|---|---|---|
| chr1:65,147,108–65,150,062 | 272.9 kb | Distal (>10kb) Multiome | 912 | |
| chr1:65,253,859–65,255,712 | 166.2 kb | Distal (>10kb) Multiome | 756 | |
| chr1:65,265,365–65,266,424 | 154.8 kb | Distal (>10kb) Multiome | 602 | |
| chr1:65,308,757–65,310,566 | 110.7 kb | Distal (>10kb) Multiome | 950 | |
| chr1:65,419,304–65,421,455 | 268 bp | At TSS Multiome | 961 | |
| chr1:65,467,350–65,468,066 | 47.0 kb | Distal (>10kb) Multiome | 382 | |
| chr1:65,687,566–65,688,519 | 267.3 kb | Distal (>10kb) Multiome HiCAR | 622 |
Genomic view of the LEPR 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.