This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The protein undergoes an initial autocatalytic processing event and interacts with a neuroendocrine secretory protein in the ER, exits the ER and sorts to secretory granules, where it is cleaved and catalytically activated during intracellular transport. The encoded protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2014]
Transcription factors with Perturb-seq knockdown data for PCSK2. 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 = PCSK2 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 PCSK2, 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 |
|---|---|---|---|---|
| chr20:17,061,363–17,062,037 | 165.3 kb | Distal (>10kb) Multiome | 41 | |
| chr20:17,071,750–17,072,687 | 155.0 kb | Distal (>10kb) Multiome | 58 | |
| chr20:17,083,475–17,084,208 | 143.3 kb | Distal (>10kb) Multiome | 94 | |
| chr20:17,138,139–17,138,728 | 88.7 kb | Distal (>10kb) Multiome | 77 | |
| chr20:17,225,915–17,227,406 | 234 bp | At TSS Multiome | 373 | |
| chr20:17,227,690–17,228,185 | 651 bp | At TSS | 135 | |
| chr20:17,228,298–17,228,993 | 1.3 kb | Proximal (<10kb) | 110 | |
| chr20:17,504,694–17,505,794 | 278.2 kb | Distal (>10kb) Multiome | 549 |
Genomic view of the PCSK2 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.