This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]
Transcription factors with Perturb-seq knockdown data for EMP2. 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 = EMP2 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 EMP2, 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 |
|---|---|---|---|---|
| chr16:10,282,522–10,283,683 | 297.2 kb | Distal (>10kb) Multiome | 60 | |
| chr16:10,385,788–10,386,451 | 194.6 kb | Distal (>10kb) Multiome | 964 | |
| chr16:10,579,792–10,580,982 | 2 bp | At TSS Multiome | 830 | |
| chr16:10,621,860–10,622,627 | 41.6 kb | Distal (>10kb) Multiome | 241 | |
| chr16:10,743,473–10,744,692 | 163.5 kb | Distal (>10kb) Multiome | 1045 | |
| chr16:10,818,333–10,818,889 | 238.0 kb | Distal (>10kb) Multiome | 127 |
Genomic view of the EMP2 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.