This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Transcription factors with Perturb-seq knockdown data for P3H2. 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 = P3H2 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 P3H2, 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 |
|---|---|---|---|---|
| chr3:190,116,508–190,116,694 | 4.2 kb | Proximal (<10kb) | 65 | |
| chr3:190,120,089–190,121,329 | 178 bp | At TSS Multiome | 615 | |
| chr3:190,133,779–190,134,630 | 13.1 kb | Distal (>10kb) Multiome | 49 | |
| chr3:190,149,667–190,151,310 | 29.2 kb | Distal (>10kb) Multiome | 236 | |
| chr3:190,167,837–190,168,758 | 47.5 kb | Distal (>10kb) Multiome | 156 | |
| chr3:190,321,681–190,323,496 | 201.5 kb | Distal (>10kb) Multiome | 739 |
Genomic view of the P3H2 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.