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FLASH GENE
Symbol PCSK2 contributors: mct - updated : 26-08-2015
HGNC name proprotein convertase subtilisin/kexin type 2
HGNC id 8744
Location 20p12.1      Physical location : 17.207.630 - 17.465.220
Synonym name paired basic amino-acid residue cleaving enzyme 2
Synonym symbol(s) NEC2, PACE2, PC2, SPC2, NEC-2
EC.number 3.4.21.94
DNA
TYPE functioning gene
STRUCTURE 258.47 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Physical map
PPIP11 20p12.1 peptidylprolyl isomerase (cyclophilin) pseudogene 11 C20orf23 20p11.23 chromosome 20 open reading frame 23 RPLP0P1 20p11.23 ribosomal protein, large, P0 pseudogene 1 RPL7AL3 20p11.23 ribosomal protein L7a-like 3 SNRPB2 20p12.2-p11.22 small nuclear ribonucleoprotein polypeptide B'' OTOR 20p12.1-p11.23 otoraplin PCSK2 20p11.2 proprotein convertase subtilisin/kexin type 2 BFSP1 20p11.23 beaded filament structural protein 1, filensin RPS27AP2 20p11.2 ribosomal protein S27a pseudogene 2 DSTN 20p11.23 destrin (actin depolymerizing factor) RRBP1 20p12-p11.2 ribosome binding protein 1 homolog 180kDa (dog) C20orf179 20 chromosome 20 open reading frame 179 SNX5 20pter-q11.23 sorting nexin 5 C20orf72 20p11.23 chromosome 20 open reading frame 72 PTMAP3 20p11.23 prothymosin, alpha pseudogene 3 (gene sequence 34) ZNF339 20pter-q11.23 zinc finger protein 339 RPL15P1 20p11.23 ribosomal protein L15 pseudogene 1 CSRP2BP 20p11.23 CSRP2 binding protein ZNF133 20p11.23-p11.22 zinc finger protein 133 (clone pHZ-13) C20orf12 20p11.23 chromosome 20 open reading frame 12 POLR3F 20p11.23 polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa RBBP9 20p11.2 retinoblastoma binding protein 9 RPS19P1 20p11.23 ribosomal protein S19 pseudogene 1 SEC23B 20pter-p12.3 Sec23 homolog B (S. cerevisiae) LOC388789 20 hypothetical gene supported by AF147354 HARS2 20p11.23 histidyl-tRNA synthetase 2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 4687 - 619 - -
12 - 4787 - 638 - -
11 - 4682 - 603 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinethyroid    
nervousbraindiencephalon   
Visualeyeuveachoroid  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet cell (alpha,beta...)
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text eye
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a preprodomain,a subtilisin-like catalytic,serine protease domain Ca2+ dependent
  • conserved P an (hemo B) domain
  • a furin cysteine-rich region
  • a transmembrane anchor and a catalytic domain with D/H/S catalytic triad
  • isoforms Precursor autocatalytically activated
    HOMOLOGY
    Homologene
    FAMILY proprotein convertase subtilisin kexin-like (SPC) subtilase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    text secretory granules
    basic FUNCTION
  • involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues
  • requires interaction with the neuroendocrine protein SCG5 for the production of an activatable zymogen
  • is the essential enzyme for pancreatic proinsulin processing
  • activation of the hypothalamic FFAR1 signaling pathway may regulate beta-endorphin release via PCSK2, and regulate the endogenous pain control system
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • proinsulin processing enzyme playing a key role in regulating insulin biosynthesis
  • SCG5 is required for the production of active prohormone convertase 2 (PCSK2), an enzyme involved in the synthesis of peptide hormones, such as glucagon and POMC
  • SCG5 is a prohormone convertase 2 (PCSK2)-binding protein
  • PAX6 directly bound to and activated the prohormone convertase 1/3 (PCSK1, PCSK2, FURIN) gene promoter and subsequently regulated proinsulin processing
  • activation of the hypothalamic FFAR1 signaling pathway may regulate beta-endorphin release via PCSK2, and regulate the endogenous pain control system
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    decreased hypothalamic PCSK1, PCSK2, FURIN in huntington disease patients
    Susceptibility to type 2 diabetes
    Variant & Polymorphism
  • variant of the PCSK2 gene associated with reduced glucose-stimulated insulin secretion, but also with lower glucagon levels, which could potentially counteract the effects of decreased insulin secretion on the risk of type 2 diabetes
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Pcsk2-null mice exhibit delayed intestinal motility, reduced refeeding response and altered plasma levels of several regulatory peptides