The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]
Transcription factors with Perturb-seq knockdown data for GYS2. 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 = GYS2 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 GYS2, 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 |
|---|---|---|---|---|
| chr12:21,595,125–21,595,656 | 9.2 kb | Proximal (<10kb) | 33 | |
| chr12:21,599,274–21,599,701 | 5.1 kb | Proximal (<10kb) | 46 | |
| chr12:21,600,100–21,600,738 | 4.1 kb | Proximal (<10kb) | 65 | |
| chr12:21,601,269–21,601,487 | 3.4 kb | Proximal (<10kb) | 3 | |
| chr12:21,604,321–21,604,946 | at TSS | At TSS | 124 | |
| chr12:21,613,908–21,614,070 | 9.1 kb | Proximal (<10kb) | 70 |
Genomic view of the GYS2 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.