The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]
Transcription factors with Perturb-seq knockdown data for TNFRSF11A. 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 = TNFRSF11A 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 TNFRSF11A, 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 |
|---|---|---|---|---|
| chr18:62,186,068–62,188,297 | 138.2 kb | Distal (>10kb) Multiome | 884 | |
| chr18:62,323,568–62,323,893 | 1.4 kb | Proximal (<10kb) | 53 | |
| chr18:62,324,436–62,326,421 | 48 bp | At TSS Multiome | 552 | |
| chr18:62,328,019–62,328,280 | 2.7 kb | Proximal (<10kb) | 86 | |
| chr18:62,329,697–62,329,884 | 4.4 kb | Proximal (<10kb) | 126 | |
| chr18:62,384,424–62,385,314 | 59.7 kb | Distal (>10kb) Multiome | 240 | |
| chr18:62,522,181–62,525,120 | 197.7 kb | Distal (>10kb) Multiome | 1028 | |
| chr18:62,526,182–62,527,164 | 201.5 kb | Distal (>10kb) Multiome | 853 | |
| chr18:62,596,005–62,597,172 | 271.2 kb | Distal (>10kb) Multiome | 194 |
Genomic view of the TNFRSF11A 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.