The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for RAB3GAP2. 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 = RAB3GAP2 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 RAB3GAP2, 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 |
|---|---|---|---|---|
| chr1:220,045,998–220,046,836 | 225.9 kb | Distal (>10kb) Multiome | 976 | |
| chr1:220,089,552–220,090,573 | 182.5 kb | Distal (>10kb) Multiome | 779 | |
| chr1:220,093,676–220,094,911 | 178.3 kb | Distal (>10kb) Multiome | 815 | |
| chr1:220,271,709–220,273,089 | 10 bp | At TSS Multiome | 984 | |
| chr1:220,274,229–220,274,377 | 1.8 kb | Proximal (<10kb) | 83 | |
| chr1:220,281,145–220,281,521 | 8.7 kb | Proximal (<10kb) | 127 | |
| chr1:220,338,584–220,339,585 | 66.5 kb | Distal (>10kb) Multiome | 180 | |
| chr1:220,527,225–220,529,488 | 255.8 kb | Distal (>10kb) Multiome | 617 | |
| chr1:220,689,932–220,691,083 | 417.9 kb | Distal (>10kb) Multiome HiCAR | 763 | |
| chr1:220,747,474–220,749,068 | 475.9 kb | Distal (>10kb) Multiome HiCAR | 799 | |
| chr1:220,785,886–220,787,782 | 514.4 kb | Distal (>10kb) Multiome HiCAR | 800 | |
| chr1:220,809,823–220,810,852 | 538.0 kb | Distal (>10kb) Multiome HiCAR | 265 |
Genomic view of the RAB3GAP2 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.