Homo sapiens Gene: PCSK2
Summary
InnateDB Gene IDBG-55840.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PCSK2
Gene Name proprotein convertase subtilisin/kexin type 2
Synonyms NEC 2; NEC-2; NEC2; PC2; SPC2;
Species Homo sapiens
Ensembl Gene ENSG00000125851
Encoded Proteins
proprotein convertase subtilisin/kexin type 2
proprotein convertase subtilisin/kexin type 2
proprotein convertase subtilisin/kexin type 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the subtilisin-like proprotein convertase family. These enzymes process latent precursor proteins into their biologically active products. The encoded protein plays a critical role in hormone biosynthesis by processing a variety of prohormones including proinsulin, proopiomelanocortin and proluteinizing-hormone-releasing hormone. 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 2011]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:17226107-17484578
Strand Forward strand
Band p12.1
Transcripts
ENST00000377899 ENSP00000367131
ENST00000262545 ENSP00000262545
ENST00000470007
ENST00000459871
ENST00000536609 ENSP00000437458
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004175 endopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0032403 protein complex binding
Biological Process
GO:0006508 proteolysis
GO:0007399 nervous system development
GO:0016485 protein processing
GO:0016486 peptide hormone processing
GO:0016540 protein autoprocessing
GO:0030070 insulin processing
GO:0034230 enkephalin processing
GO:0034231 islet amyloid polypeptide processing
GO:0044267 cellular protein metabolic process
Cellular Component
GO:0005615 extracellular space
GO:0016020 membrane
GO:0030133 transport vesicle
GO:0030141 secretory granule
GO:0030425 dendrite
GO:0034774 secretory granule lumen
GO:0043025 neuronal cell body
GO:0043204 perikaryon
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Metabolism of proteins pathway
Insulin processing pathway
Peptide hormone metabolism pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.315186
RefSeq NM_001201528 NM_001201529 NM_002594
HUGO
OMIM
CCDS CCDS13125 CCDS56179 CCDS56180
HPRD 01202
IMGT
EMBL
GenPept
RNA Seq Atlas