The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
Transcription factors with Perturb-seq knockdown data for SCARB2. 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 = SCARB2 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 SCARB2, 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 |
|---|---|---|---|---|
| chr4:75,939,639–75,941,475 | 272.8 kb | Distal (>10kb) Multiome | 762 | |
| chr4:75,990,621–75,991,159 | 222.9 kb | Distal (>10kb) Multiome | 782 | |
| chr4:76,087,045–76,087,527 | 126.6 kb | Distal (>10kb) Multiome | 438 | |
| chr4:76,147,405–76,148,870 | 65.4 kb | Distal (>10kb) Multiome | 1076 | |
| chr4:76,212,911–76,214,625 | 86 bp | At TSS Multiome | 798 | |
| chr4:76,234,471–76,234,650 | at TSS | At TSS | 154 | |
| chr4:76,251,398–76,252,255 | 37.9 kb | Distal (>10kb) Multiome | 710 | |
| chr4:76,305,965–76,307,583 | 92.8 kb | Distal (>10kb) Multiome HiCAR | 793 |
Genomic view of the SCARB2 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.