Aliases for PCSK2 Gene
External Ids for PCSK2 Gene
Previous HGNC Symbols for PCSK2 Gene
Previous GeneCards Identifiers for PCSK2 Gene
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]
GeneCards Summary for PCSK2 Gene
PCSK2 (Proprotein Convertase Subtilisin/Kexin Type 2) is a Protein Coding gene. Diseases associated with PCSK2 include Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease and Insulinoma. Among its related pathways are Peptide hormone metabolism and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include endopeptidase activity. An important paralog of this gene is FURIN.
UniProtKB/Swiss-Prot Summary for PCSK2 Gene
Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Responsible for the release of glucagon from proglucagon in pancreatic A cells.