PCSK2
proprotein convertase subtilisin/kexin type 2
Summary
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]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1471336766 | 20:17,207,996 | C/T | — | uncertain significance |
| rs1383425066 | 20:17,208,082 | C/A | — | likely benign |
| rs201483143 | 20:17,208,104 | G/A | — | uncertain significance |
| rs746184772 | 20:17,208,117 | G/A | — | uncertain significance |
| rs1225952872 | 20:17,240,895 | C/T | — | uncertain significance |
| rs1267879920 | 20:17,240,945 | A/G | — | uncertain significance |
| rs754614068 | 20:17,240,949 | G/A | — | uncertain significance |
| rs777254032 | 20:17,240,957 | C/T | — | uncertain significance |
| rs746998948 | 20:17,240,959 | C/A | — | uncertain significance |
| rs1408906910 | 20:17,341,177 | A/T | — | uncertain significance |
| rs4814615 | 20:17,357,573 | G/A | intron variant | — |
| rs16999051 | 20:17,361,482 | C/T | intron variant | — |
| rs6044777 | 20:17,368,542 | C/A | — | — |
| rs56353032 | 20:17,369,072 | A/T | intron variant | — |
| rs2514891661 | 20:17,389,950 | C/G | — | uncertain significance |
| rs564680092 | 20:17,405,202 | G/C | — | — |
| rs893059937 | 20:17,410,153 | A/C | — | uncertain significance |
| rs2514939807 | 20:17,417,506 | C/T | — | uncertain significance |
| rs2021786 | 20:17,421,978 | T/A | — | — |
| rs6080699 | 20:17,434,286 | G/C | intron variant | — |
| rs6044834 | 20:17,436,473 | T/G | intron variant | — |
| rs778263964 | 20:17,446,152 | G/A | — | uncertain significance |
| rs749157367 | 20:17,446,194 | C/T | — | uncertain significance |
| rs11907317 | 20:17,462,475 | G/A | — | benign |
| rs763874559 | 20:17,462,636 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.