The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]
Transcription factors with Perturb-seq knockdown data for CASR. 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 = CASR 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 CASR, 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 |
|---|---|---|---|---|
| chr3:121,894,283–121,894,849 | 289.9 kb | Distal (>10kb) Multiome | 105 | |
| chr3:122,021,702–122,022,458 | 162.3 kb | Distal (>10kb) Multiome | 376 | |
| chr3:122,183,580–122,184,993 | 105 bp | At TSS Multiome | 224 | |
| chr3:122,382,880–122,383,692 | 198.6 kb | Distal (>10kb) Multiome | 711 | |
| chr3:122,383,843–122,384,747 | 199.8 kb | Distal (>10kb) Multiome | 937 | |
| chr3:122,442,936–122,443,707 | 258.9 kb | Distal (>10kb) Multiome | 134 |
Genomic view of the CASR 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.