This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]
Transcription factors with Perturb-seq knockdown data for OCLN. 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 = OCLN 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 OCLN, 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 |
|---|---|---|---|---|
| chr5:69,217,542–69,218,587 | 274.8 kb | Distal (>10kb) Multiome | 898 | |
| chr5:69,234,302–69,235,305 | 257.9 kb | Distal (>10kb) Multiome | 732 | |
| chr5:69,300,544–69,301,286 | 191.9 kb | Distal (>10kb) Multiome | 217 | |
| chr5:69,368,998–69,370,235 | 123.1 kb | Distal (>10kb) Multiome | 956 | |
| chr5:69,414,852–69,415,897 | 77.6 kb | Distal (>10kb) Multiome | 714 | |
| chr5:69,492,169–69,494,057 | 73 bp | At TSS Multiome | 821 | |
| chr5:69,499,604–69,500,518 | 7.3 kb | Proximal (<10kb) Multiome | 300 |
Genomic view of the OCLN 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.