The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]
Transcription factors with Perturb-seq knockdown data for UNC80. 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 = UNC80 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 UNC80, 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 |
|---|---|---|---|---|
| chr2:208,406,386–208,407,453 | 1364.9 kb | Distal (>10kb) Multiome HiCAR | 324 | |
| chr2:209,636,928–209,637,679 | 134.4 kb | Distal (>10kb) Multiome | 71 | |
| chr2:209,771,427–209,772,913 | 91 bp | At TSS Multiome | 849 | |
| chr2:209,773,211–209,773,954 | 1.8 kb | Proximal (<10kb) Multiome | 123 | |
| chr2:209,960,058–209,961,333 | at TSS | At TSS | 269 | |
| chr2:209,985,387–209,986,656 | 214.0 kb | Distal (>10kb) Multiome | 197 | |
| chr2:210,002,022–210,003,279 | 230.7 kb | Distal (>10kb) Multiome | 811 | |
| chr2:210,169,996–210,172,503 | 399.5 kb | Distal (>10kb) Multiome | 1015 |
Genomic view of the UNC80 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.