This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Transcription factors with Perturb-seq knockdown data for LRP5. 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 = LRP5 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 LRP5, 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 |
|---|---|---|---|---|
| chr11:68,030,139–68,031,153 | 282.0 kb | Distal (>10kb) Multiome | 708 | |
| chr11:68,038,378–68,039,498 | 273.6 kb | Distal (>10kb) Multiome | 819 | |
| chr11:68,120,465–68,122,314 | 191.1 kb | Distal (>10kb) Multiome | 921 | |
| chr11:68,127,759–68,129,017 | 184.1 kb | Distal (>10kb) Multiome | 604 | |
| chr11:68,212,619–68,214,642 | 99.7 kb | Distal (>10kb) Multiome | 967 | |
| chr11:68,271,213–68,272,543 | 40.5 kb | Distal (>10kb) Multiome | 943 | |
| chr11:68,312,404–68,312,863 | 82 bp | At TSS Multiome | 279 | |
| chr11:68,459,835–68,461,497 | 147.9 kb | Distal (>10kb) Multiome | 1017 |
Genomic view of the LRP5 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.