This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for GAD2. 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 = GAD2 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 GAD2, 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 |
|---|---|---|---|---|
| chr10:25,933,585–25,935,356 | 282.4 kb | Distal (>10kb) Multiome | 425 | |
| chr10:26,211,748–26,212,236 | 4.4 kb | Proximal (<10kb) | 87 | |
| chr10:26,213,352–26,215,371 | 2.4 kb | Proximal (<10kb) Multiome | 288 | |
| chr10:26,215,641–26,217,078 | 437 bp | At TSS Multiome | 315 | |
| chr10:26,217,323–26,218,515 | 1.3 kb | Proximal (<10kb) Multiome | 231 | |
| chr10:26,222,412–26,223,241 | 5.7 kb | Proximal (<10kb) | 164 |
Genomic view of the GAD2 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.