This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Transcription factors with Perturb-seq knockdown data for ERLIN2. 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 = ERLIN2 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 ERLIN2, 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 |
|---|---|---|---|---|
| chr8:37,675,185–37,675,906 | 61.1 kb | Distal (>10kb) Multiome | 507 | |
| chr8:37,694,827–37,698,811 | 41.0 kb | Distal (>10kb) Multiome | 830 | |
| chr8:37,735,982–37,737,291 | 77 bp | At TSS Multiome | 958 | |
| chr8:37,762,144–37,763,270 | 26.0 kb | Distal (>10kb) Multiome | 889 | |
| chr8:37,796,327–37,797,580 | 60.3 kb | Distal (>10kb) Multiome | 485 | |
| chr8:37,801,462–37,802,090 | 65.2 kb | Distal (>10kb) Multiome | 164 | |
| chr8:37,821,399–37,822,221 | 85.3 kb | Distal (>10kb) Multiome | 284 | |
| chr8:37,826,056–37,826,968 | 90.1 kb | Distal (>10kb) Multiome | 259 | |
| chr8:37,849,554–37,850,089 | 113.3 kb | Distal (>10kb) Multiome | 929 | |
| chr8:37,898,759–37,900,024 | 163.0 kb | Distal (>10kb) Multiome | 956 | |
| chr8:37,915,980–37,916,519 | 179.7 kb | Distal (>10kb) Multiome | 465 | |
| chr8:37,965,216–37,966,371 | 229.1 kb | Distal (>10kb) Multiome | 177 | |
| chr8:38,015,136–38,015,926 | 278.9 kb | Distal (>10kb) Multiome | 59 | |
| chr8:38,029,913–38,031,249 | 293.9 kb | Distal (>10kb) Multiome | 948 |
Genomic view of the ERLIN2 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.