This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Transcription factors with Perturb-seq knockdown data for GEMIN5. 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 = GEMIN5 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 GEMIN5, 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 |
|---|---|---|---|---|
| chr5:154,643,128–154,643,829 | 294.6 kb | Distal (>10kb) Multiome | 15 | |
| chr5:154,646,817–154,647,698 | 290.8 kb | Distal (>10kb) Multiome | 614 | |
| chr5:154,682,263–154,683,578 | 255.4 kb | Distal (>10kb) Multiome | 1040 | |
| chr5:154,691,307–154,691,923 | 246.6 kb | Distal (>10kb) Multiome | 229 | |
| chr5:154,712,302–154,714,063 | 225.5 kb | Distal (>10kb) Multiome | 426 | |
| chr5:154,754,315–154,757,528 | 183.1 kb | Distal (>10kb) Multiome | 1020 | |
| chr5:154,842,756–154,843,602 | 95.1 kb | Distal (>10kb) Multiome | 390 | |
| chr5:154,850,234–154,850,864 | 87.6 kb | Distal (>10kb) Multiome | 450 | |
| chr5:154,857,098–154,858,937 | 79.8 kb | Distal (>10kb) Multiome | 1044 | |
| chr5:154,937,538–154,938,682 | 29 bp | At TSS Multiome | 907 | |
| chr5:154,939,143–154,939,745 | 932 bp | At TSS | 42 | |
| chr5:154,940,587–154,941,516 | 2.8 kb | Proximal (<10kb) Multiome | 664 |
Genomic view of the GEMIN5 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.