This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]
Transcription factors with Perturb-seq knockdown data for MYCBP2. 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 = MYCBP2 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 MYCBP2, 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 |
|---|---|---|---|---|
| chr13:77,026,148–77,027,636 | 299.9 kb | Distal (>10kb) Multiome | 762 | |
| chr13:77,047,482–77,049,282 | 279.0 kb | Distal (>10kb) Multiome | 304 | |
| chr13:77,317,203–77,317,486 | 9.6 kb | Proximal (<10kb) | 55 | |
| chr13:77,325,026–77,325,492 | 1.6 kb | Proximal (<10kb) | 84 | |
| chr13:77,325,949–77,327,619 | 54 bp | At TSS Multiome | 884 | |
| chr13:77,328,702–77,330,171 | 2.3 kb | Proximal (<10kb) Multiome | 787 |
Genomic view of the MYCBP2 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.