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Gene : PCSK2 Homo sapiens

Name  ? proprotein convertase subtilisin/kexin type 2 Cytological Location  20p12.1
Brief Description  proprotein convertase subtilisin/kexin type 2
description  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]
  • synonyms:
  • AK312341,
  • NEC2,
  • PC2,
  • NEC2,
  • HGNC:8744,
  • neuroendocrine convertase 2,
  • OTTHUMG00000031941,
  • KEX2-like endoprotease 2,
  • NEC-2,
  • PCSK2,
  • NM_002594,
  • SPC2,
  • uc002wpm.4,
  • NEC 2,
  • PC2,
  • SPC2
  • identifiers:
  • 5126,
  • ENSG00000125851,
  • PCSK2

Genome feature

Region: gene ? Length: 258472  
Location: 20:17226107-17484578 Cyto location: 20p12.1

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> GO terms.

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Gene --> Proteins.


Gene Report --> GWAS hit


0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Orthologues


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



2011 SN Ps

4 Cross References

15 Data Sets

12 Homologues

0 Located Features

90 Rna Seq Results