The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for GNE. 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 = GNE 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 GNE, 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 |
|---|---|---|---|---|
| chr9:36,036,454–36,037,604 | 221.4 kb | Distal (>10kb) Multiome | 528 | |
| chr9:36,118,241–36,119,014 | 140.0 kb | Distal (>10kb) Multiome | 47 | |
| chr9:36,135,958–36,137,395 | 121.8 kb | Distal (>10kb) Multiome | 462 | |
| chr9:36,163,065–36,163,901 | 95.0 kb | Distal (>10kb) Multiome | 343 | |
| chr9:36,166,123–36,166,839 | 91.8 kb | Distal (>10kb) Multiome | 515 | |
| chr9:36,188,047–36,188,562 | 70.1 kb | Distal (>10kb) Multiome | 13 | |
| chr9:36,190,463–36,191,342 | 67.6 kb | Distal (>10kb) Multiome | 863 | |
| chr9:36,257,896–36,258,893 | 91 bp | At TSS Multiome | 891 | |
| chr9:36,400,210–36,402,094 | 142.6 kb | Distal (>10kb) Multiome | 864 | |
| chr9:36,415,916–36,416,528 | 157.8 kb | Distal (>10kb) Multiome | 55 | |
| chr9:36,486,561–36,488,558 | 229.4 kb | Distal (>10kb) Multiome | 733 |
Genomic view of the GNE 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.