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    PCSK2 proprotein convertase subtilisin/kexin type 2 [ Homo sapiens (human) ]

    Gene ID: 5126, updated on 11-Jun-2021

    Summary

    Official Symbol
    PCSK2provided by HGNC
    Official Full Name
    proprotein convertase subtilisin/kexin type 2provided by HGNC
    Primary source
    HGNC:HGNC:8744
    See related
    Ensembl:ENSG00000125851 MIM:162151
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PC2; NEC2; SPC2; NEC 2; NEC-2
    Summary
    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]
    Expression
    Biased expression in adrenal (RPKM 14.5), brain (RPKM 10.5) and 9 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PCSK2 in Genome Data Viewer
    Location:
    20p12.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (17226107..17484578)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (17206752..17465223)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372545 Neighboring gene RNA, U1 small nuclear 131, pseudogene Neighboring gene uncharacterized LOC105372546 Neighboring gene dynein light chain Tctex-type 3 pseudogene 1 Neighboring gene beaded filament structural protein 1 Neighboring gene RPS27A pseudogene 2 Neighboring gene RN7SK pseudogene 69 Neighboring gene destrin, actin depolymerizing factor

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association meta-analysis of preschool internalizing problems.
    GeneReviews: Not available
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    GeneReviews: Not available
    Genome-wide association study of biochemical traits in Korcula Island, Croatia.
    GeneReviews: Not available
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    GeneReviews: Not available
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in enkephalin processing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in insulin processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in islet amyloid polypeptide processing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptide hormone processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in peptide hormone processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autoprocessing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in secretory granule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in transport vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    neuroendocrine convertase 2
    Names
    KEX2-like endoprotease 2
    prohormone convertase 2
    NP_001188457.1
    NP_001188458.1
    NP_002585.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001201528.2NP_001188457.1  neuroendocrine convertase 2 isoform 3

      See identical proteins and their annotated locations for NP_001188457.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL031664, BC001905, BC040546
      Consensus CDS
      CCDS56180.1
      UniProtKB/Swiss-Prot
      P16519
      Related
      ENSP00000367131.1, ENST00000377899.5
      Conserved Domains (4) summary
      cd04059
      Location:103399
      Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
      pfam00082
      Location:139416
      Peptidase_S8; Subtilase family
      pfam01483
      Location:485572
      P_proprotein; Proprotein convertase P-domain
      pfam16470
      Location:1490
      S8_pro-domain; Peptidase S8 pro-domain
    2. NM_001201529.3NP_001188458.1  neuroendocrine convertase 2 isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_001188458.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK294200, AL031664, AL359511, BC040546
      Consensus CDS
      CCDS56179.1
      UniProtKB/Swiss-Prot
      P16519
      Related
      ENSP00000437458.1, ENST00000536609.1
      Conserved Domains (4) summary
      cd04059
      Location:87383
      Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
      pfam00082
      Location:123400
      Peptidase_S8; Subtilase family
      pfam01483
      Location:469556
      P_proprotein; Proprotein convertase P-domain
      pfam16470
      Location:3374
      S8_pro-domain; Peptidase S8 pro-domain
    3. NM_002594.5NP_002585.2  neuroendocrine convertase 2 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_002585.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC001905, BC005815, BC040546, BP384064, CD519990, DA148468, HY137524
      Consensus CDS
      CCDS13125.1
      UniProtKB/Swiss-Prot
      P16519
      Related
      ENSP00000262545.2, ENST00000262545.7
      Conserved Domains (4) summary
      cd04059
      Location:122418
      Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases
      pfam00082
      Location:158435
      Peptidase_S8; Subtilase family
      pfam01483
      Location:504591
      P_proprotein; Proprotein convertase P-domain
      pfam16470
      Location:33109
      S8_pro-domain; Peptidase S8 pro-domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      17226107..17484578
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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