The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for EBP. 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 = EBP 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 EBP, 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 |
|---|---|---|---|---|
| chrX:48,475,845–48,476,469 | 45.6 kb | Distal (>10kb) Multiome | 613 | |
| chrX:48,508,766–48,509,247 | 12.9 kb | Distal (>10kb) Multiome | 400 | |
| chrX:48,521,369–48,522,158 | 22 bp | At TSS Multiome | 519 | |
| chrX:48,539,185–48,540,294 | 17.9 kb | Distal (>10kb) Multiome | 658 | |
| chrX:48,574,090–48,575,023 | 52.8 kb | Distal (>10kb) Multiome | 779 | |
| chrX:48,597,350–48,598,476 | 76.1 kb | Distal (>10kb) Multiome | 660 | |
| chrX:48,676,132–48,677,132 | 154.7 kb | Distal (>10kb) Multiome | 642 | |
| chrX:48,695,862–48,697,105 | 174.9 kb | Distal (>10kb) Multiome | 600 | |
| chrX:48,737,116–48,737,756 | 215.6 kb | Distal (>10kb) Multiome | 580 | |
| chrX:48,801,126–48,802,845 | 280.1 kb | Distal (>10kb) Multiome | 734 |
Genomic view of the EBP 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.