This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for GEMIN2. 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 = GEMIN2 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 GEMIN2, 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 |
|---|---|---|---|---|
| chr14:39,102,463–39,103,834 | 11.1 kb | Distal (>10kb) Multiome | 1067 | |
| chr14:39,112,760–39,113,146 | 1.2 kb | Proximal (<10kb) | 7 | |
| chr14:39,114,070–39,114,631 | 10 bp | At TSS Multiome | 834 | |
| chr14:39,169,826–39,170,847 | 56.1 kb | Distal (>10kb) Multiome | 1008 | |
| chr14:39,174,486–39,175,885 | 60.8 kb | Distal (>10kb) Multiome | 1141 | |
| chr14:39,203,536–39,204,758 | 89.8 kb | Distal (>10kb) Multiome | 293 | |
| chr14:39,266,213–39,267,903 | 152.9 kb | Distal (>10kb) Multiome | 1124 |
Genomic view of the GEMIN2 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.