This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for GBA2. 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 = GBA2 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 GBA2, 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 |
|---|---|---|---|---|
| chr9:35,489,223–35,490,919 | 259.3 kb | Distal (>10kb) Multiome | 918 | |
| chr9:35,603,584–35,606,173 | 145.0 kb | Distal (>10kb) Multiome | 918 | |
| chr9:35,645,821–35,647,298 | 103.3 kb | Distal (>10kb) Multiome | 734 | |
| chr9:35,657,275–35,659,114 | 91.2 kb | Distal (>10kb) Multiome | 1156 | |
| chr9:35,664,903–35,665,580 | 84.0 kb | Distal (>10kb) Multiome | 814 | |
| chr9:35,675,371–35,676,451 | 73.3 kb | Distal (>10kb) Multiome | 223 | |
| chr9:35,689,224–35,691,525 | 58.0 kb | Distal (>10kb) Multiome | 541 | |
| chr9:35,731,682–35,733,531 | 16.9 kb | Distal (>10kb) Multiome | 920 | |
| chr9:35,748,884–35,750,005 | 78 bp | At TSS Multiome | 667 | |
| chr9:35,756,620–35,757,642 | 7.8 kb | Proximal (<10kb) Multiome | 810 | |
| chr9:35,790,361–35,791,220 | 41.3 kb | Distal (>10kb) Multiome | 282 | |
| chr9:35,791,337–35,791,986 | 42.5 kb | Distal (>10kb) Multiome | 98 | |
| chr9:35,811,906–35,812,486 | 63.0 kb | Distal (>10kb) Multiome | 610 | |
| chr9:35,814,402–35,815,681 | 66.0 kb | Distal (>10kb) Multiome | 896 | |
| chr9:35,828,657–35,829,781 | 80.1 kb | Distal (>10kb) Multiome | 419 | |
| chr9:35,845,853–35,846,711 | 97.1 kb | Distal (>10kb) Multiome | 141 | |
| chr9:36,036,454–36,037,604 | 287.8 kb | Distal (>10kb) Multiome | 528 |
Genomic view of the GBA2 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.