This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]
Transcription factors with Perturb-seq knockdown data for ABHD12. 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 = ABHD12 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 ABHD12, 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 |
|---|---|---|---|---|
| chr20:25,195,309–25,197,066 | 195.1 kb | Distal (>10kb) Multiome | 970 | |
| chr20:25,247,007–25,249,001 | 142.7 kb | Distal (>10kb) Multiome | 1035 | |
| chr20:25,389,726–25,391,241 | 30 bp | At TSS Multiome | 1021 | |
| chr20:25,391,727–25,391,912 | 892 bp | At TSS | 7 | |
| chr20:25,394,116–25,394,562 | 3.3 kb | Proximal (<10kb) | 29 | |
| chr20:25,399,224–25,399,466 | 8.4 kb | Proximal (<10kb) | 142 | |
| chr20:25,407,111–25,408,013 | 16.8 kb | Distal (>10kb) Multiome | 1021 | |
| chr20:25,550,130–25,551,344 | 160.0 kb | Distal (>10kb) Multiome | 207 | |
| chr20:25,584,579–25,586,173 | 194.7 kb | Distal (>10kb) Multiome | 890 | |
| chr20:25,622,823–25,624,816 | 233.2 kb | Distal (>10kb) Multiome | 1127 | |
| chr20:25,626,372–25,627,565 | 236.0 kb | Distal (>10kb) Multiome | 102 |
Genomic view of the ABHD12 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.