PCSK2

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]

Description

Proprotein convertase subtilisin/kexin type 2

Tissue specificity

Tissue enhanced (adrenal gland, brain, retina, thyroid gland)

Subcell location

Vesicles

Predicted location

Intracellular, Secreted in other tissues

Protein family

Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

20 (17226107 - 17484578)

Ensembl ID

ENSG00000125851  (ver. 103.38)

Orthologs

Mouse Pcsk2: ENSMUSG00000027419

UniProt

P16519

neXtProt

NX_P16519

Human splice variants
Mouse splice variants

Protein structure