This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016]
Transcription factors with Perturb-seq knockdown data for ALDH2. 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 = ALDH2 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 ALDH2, 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 |
|---|---|---|---|---|
| chr12:111,597,725–111,600,125 | 167.3 kb | Distal (>10kb) Multiome | 973 | |
| chr12:111,685,452–111,686,504 | 80.9 kb | Distal (>10kb) Multiome | 858 | |
| chr12:111,766,539–111,767,436 | 23 bp | At TSS Multiome | 732 | |
| chr12:111,775,668–111,776,178 | 9.0 kb | Proximal (<10kb) Multiome HiCAR | 448 | |
| chr12:111,841,636–111,842,766 | 75.1 kb | Distal (>10kb) Multiome | 963 | |
| chr12:111,967,710–111,968,344 | 201.2 kb | Distal (>10kb) Multiome | 26 | |
| chr12:112,012,418–112,014,496 | 246.4 kb | Distal (>10kb) Multiome | 1077 |
Genomic view of the ALDH2 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.