This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Transcription factors with Perturb-seq knockdown data for GPT2. 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 = GPT2 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 GPT2, 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 |
|---|---|---|---|---|
| chr16:46,620,934–46,621,754 | 263.0 kb | Distal (>10kb) Multiome | 816 | |
| chr16:46,632,606–46,634,034 | 251.1 kb | Distal (>10kb) Multiome | 427 | |
| chr16:46,688,335–46,690,548 | 195.1 kb | Distal (>10kb) Multiome | 1034 | |
| chr16:46,739,861–46,740,427 | 144.2 kb | Distal (>10kb) Multiome | 134 | |
| chr16:46,789,580–46,790,544 | 94.3 kb | Distal (>10kb) Multiome | 725 | |
| chr16:46,830,588–46,832,033 | 53.0 kb | Distal (>10kb) Multiome | 792 | |
| chr16:46,883,418–46,885,208 | 151 bp | At TSS Multiome | 969 | |
| chr16:46,885,524–46,886,746 | 2.0 kb | Proximal (<10kb) Multiome | 318 | |
| chr16:46,972,819–46,974,091 | 89.3 kb | Distal (>10kb) Multiome | 975 | |
| chr16:47,037,293–47,038,472 | 153.6 kb | Distal (>10kb) Multiome | 771 | |
| chr16:47,142,822–47,145,065 | 259.4 kb | Distal (>10kb) Multiome | 802 |
Genomic view of the GPT2 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.