This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
Transcription factors with Perturb-seq knockdown data for GABRB3. 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 = GABRB3 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 GABRB3, 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 |
|---|---|---|---|---|
| chr15:26,628,220–26,629,757 | 144.5 kb | Distal (>10kb) Multiome | 360 | |
| chr15:26,633,277–26,634,636 | 140.0 kb | Distal (>10kb) Multiome | 134 | |
| chr15:26,767,146–26,767,831 | 6.3 kb | Proximal (<10kb) Multiome | 143 | |
| chr15:26,771,278–26,773,906 | 1.9 kb | Proximal (<10kb) Multiome | 353 | |
| chr15:26,774,016–26,774,240 | 959 bp | At TSS | 41 | |
| chr15:26,866,706–26,868,257 | 93.3 kb | Distal (>10kb) Multiome | 172 | |
| chr15:26,970,760–26,971,806 | 197.4 kb | Distal (>10kb) Multiome | 183 |
Genomic view of the GABRB3 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.