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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PCSK2 Gene

protein-coding   GIFtS: 66
GCID: GC20P017206

Proprotein Convertase Subtilisin/Kexin Type 2


(Previous symbol: NEC2)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Proprotein Convertase Subtilisin/Kexin Type 21 2     NEC 22 3
NEC21 2 3 5     EC 3.4.21.943 8
KEX2-Like Endoprotease 21 2 3     NEC-22
PC22 3 5     SPC22
Neuroendocrine Convertase 21 2     Proprotein Convertase 23
Prohormone Convertase 22 3     EC 3.4.218

External Ids:    HGNC: 87441   Entrez Gene: 51262   Ensembl: ENSG000001258517   OMIM: 1621515   UniProtKB: P165193   

Export aliases for PCSK2 gene to outside databases

Previous GC identifers: GC20P017195 GC20P017202 GC20P017155 GC20P017170


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PCSK2 Gene:
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)

GeneCards Summary for PCSK2 Gene: 
PCSK2 (proprotein convertase subtilisin/kexin type 2) is a protein-coding gene. Diseases associated with PCSK2 include glucagonoma, and myocardial infarction, and among its related super-pathways are Peptide hormone metabolism and Post-translational protein modification. GO annotations related to this gene include protein complex binding and serine-type endopeptidase activity. An important paralog of this gene is PCSK4.

UniProtKB/Swiss-Prot: NEC2_HUMAN, P16519
Function: Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic
amino acid residues. Responsible for the release of glucagon from proglucagon in pancreatic A cells

Gene Wiki entry for PCSK2 (Proprotein convertase 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011387.8  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PCSK2 gene promoter:
         Spz1   NRSF form 1   NRSF form 2   HNF-1A   MEF-2A   HNF-1   aMEF-2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPCSK2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PCSK2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PCSK2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p11.2   Ensembl cytogenetic band:  20p12.1   HGNC cytogenetic band: 20p11.2

PCSK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCSK2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P017206:  view genomic region     (about GC identifiers)

Start:
17,206,752 bp from pter      End:
17,465,223 bp from pter
Size:
258,472 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NEC2_HUMAN, P16519 (See protein sequence)
Recommended Name: Neuroendocrine convertase 2 precursor  
Size: 638 amino acids; 70565 Da
Subcellular location: Cytoplasmic vesicle, secretory vesicle. Note=Localized in the secretion granules
Sequence caution: Sequence=CAA21069.2; Type=Erroneous initiation; Sequence=CAB89428.2; Type=Erroneous initiation;
Sequence=CAB96732.2; Type=Erroneous initiation;
Secondary accessions: B1ANH9 B4DFQ3 Q14927 Q5JYQ1 Q8IWA8 Q9NQG3 Q9NUG1 Q9UJC6
Alternative splicing: 3 isoforms:  P16519-1   P16519-2   P16519-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PCSK2: NX_P16519

Explore proteomics data for PCSK2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P16519

  • 4/18 DME Specific Peptides for PCSK2 (P16519) (see all 18)
     GTSAAAP  CGVGVAY  SKVAGIR  GYTGKGV 

    PCSK2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PCSK2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001188457.1  NP_001188458.1  NP_002585.2  

    ENSEMBL proteins: 
     ENSP00000367131   ENSP00000262545   ENSP00000437458  
    Reactome Protein details: P16519
    Human Recombinant Protein Products for PCSK2: 
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    OriGene Purified Protein for PCSK2
    OriGene Protein Over-expression Lysate for PCSK2
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    Novus Biologicals PCSK2 Proteins
    Novus Biologicals PCSK2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PCSK2 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA9020868
    GO:0016020membrane IDA8034613
    GO:0030133transport vesicle IEA--
    GO:0030425dendrite IEA--
    GO:0034774secretory granule lumen TAS--

    PCSK2 for ontologies           About GeneDecksing



    PCSK2 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for PCSK2 

    Assay Products for PCSK2: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PCSK2 
    Cloud-Clone Corp. CLIAs for PCSK2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR000209 Peptidase_S8/S53_dom
     IPR015500 Peptidase_S8_subtilisin-rel
     IPR022398 Peptidase_S8_His-AS
     IPR008979 Galactose-bd-like
     IPR002884 PrprotnconvertsP

    Graphical View of Domain Structure for InterPro Entry P16519

    ProtoNet protein and cluster: P16519

    2 Blocks protein domains:
    IPB000209 Subtilisin serine protease family (S8) signature
    IPB002884 Proprotein convertase


    UniProtKB/Swiss-Prot: NEC2_HUMAN, P16519
    Similarity: Belongs to the peptidase S8 family. Furin subfamily


    PCSK2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NEC2_HUMAN, P16519
    Function: Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic
    amino acid residues. Responsible for the release of glucagon from proglucagon in pancreatic A cells
    Catalytic activity: Release of protein hormones and neuropeptides from their precursors, generally by hydrolysis
    of -Lys-Arg- - bonds

         Genatlas biochemistry entry for PCSK2:
    proprotein convertase subtilisin,kexin like 2,primarily expressed in tissues and cells containing secretory
    granules

         Enzyme Numbers (IUBMB): EC 3.4.21.941 2 EC 3.4.212

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity ----
    GO:0004252serine-type endopeptidase activity IDA7626024
    GO:0005515protein binding IPI7913882
    GO:0032403protein complex binding IEA--
         
    PCSK2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PCSK2:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pcsk2):
     behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland  homeostasis/metabolism 
     integument  mortality/aging  reproductive system 

    PCSK2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pcsk2tm1Dfs for PCSK2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PCSK2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PCSK2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PCSK2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PCSK2 

    miRNA
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    8/55 QIAGEN miScript miRNA Assays for microRNAs that regulate PCSK2 (see all 55):
    hsa-miR-549 hsa-miR-582-3p hsa-miR-4307 hsa-miR-429 hsa-miR-300 hsa-miR-513a-5p hsa-miR-29b-1* hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidPCSK2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PCSK2
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): PCSK2 (NM_002594)
    Sino Biological Human cDNA Clone for PCSK2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PCSK2
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCSK2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PCSK2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Insulin Processing
    Peptide hormone metabolism0.39
    Insulin Processing0.39
    2Asparagine N-linked glycosylation
    Metabolism of proteins0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for PCSK2
        Insulin Processing
    Metabolism of proteins
    Peptide hormone metabolism



    PCSK2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PCSK2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/19 Interacting proteins for PCSK2 (P165193 ENSP000002625454) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SCG5P054083, ENSP000003001754I2D: score=2 STRING: ENSP00000300175
    PMCHP203823, ENSP000003322254I2D: score=1 STRING: ENSP00000332225
    IAPPP109973, ENSP000002406524I2D: score=1 STRING: ENSP00000240652
    INS-IGF2ENSP000003489864STRING: ENSP00000348986
    KIF5BENSP000003070784STRING: ENSP00000307078
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IDA7626024
    GO:0007399nervous system development IEA--
    GO:0009790embryo development IEA--
    GO:0016485protein processing ----
    GO:0016486peptide hormone processing ----

    PCSK2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PCSK2 for compounds           About GeneDecksing

    EMD Millipore small molecules for PCSK2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PCSK2 (NEC2)

    2 DrugBank Compounds for PCSK2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Insulin, porcine-- 9004-14-2target--9662053 17016423 17221210 17139284 8666140
    Insulin Regular -- 11061-68-0target--17139284 17016423

    10/26 Novoseek inferred chemical compound relationships for PCSK2 gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spc3 88 24 7724604 (6), 7768927 (2), 7704436 (1), 12145326 (1) (see all 7)
    proglucagon 84.1 37 15528303 (6), 7730317 (4), 9287128 (3), 9528943 (3) (see all 11)
    peptidylglycine 78.2 5 7865135 (1), 1843282 (1), 1791845 (1), 10455138 (1) (see all 5)
    prosomatostatin 69.7 7 8095501 (3), 14614908 (2)
    oxyntomodulin 67 5 15528303 (2), 7864855 (2), 9287128 (1)
    preproinsulin 64.8 11 8546693 (11)
    prepro npy 58.7 7 19190683 (2), 19428990 (2)
    i-app 55.4 7 16873681 (2), 10931181 (1), 15802374 (1), 16866369 (1)
    acth 49.1 13 7962350 (5), 7923822 (2), 7805649 (1), 9359624 (1) (see all 7)
    c-peptide 47.1 10 9422738 (1), 9166668 (1), 8792089 (1), 7698505 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about PCSK2 / NEC2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PCSK2 gene (3 alternative transcripts): 
    NM_001201528.1  NM_001201529.1  NM_002594.3  

    Unigene Cluster for PCSK2:

    Proprotein convertase subtilisin/kexin type 2
    Hs.315186  [show with all ESTs]
    Unigene Representative Sequence: NM_002594
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377899(uc002wpl.3 uc002wpn.3) ENST00000262545(uc002wpm.3 uc010zrm.2)
    ENST00000536609 ENST00000470007 ENST00000459871

    miRNA
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    8/55 QIAGEN miScript miRNA Assays for microRNAs that regulate PCSK2 (see all 55):
    hsa-miR-549 hsa-miR-582-3p hsa-miR-4307 hsa-miR-429 hsa-miR-300 hsa-miR-513a-5p hsa-miR-29b-1* hsa-miR-9
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    Additional mRNA sequence: 

    AK294200.1 AK312341.1 BC001905.1 BC005815.2 BC040546.1 J05252.1 

    7 DOTS entries:

    DT.413392  DT.100764314  DT.95237554  DT.92421808  DT.100764312  DT.95167682  DT.95167683 

    24/100 AceView cDNA sequences (see all 100):

    BU736860 M78863 BC001905 BM967041 BQ101104 BM704905 CA947186 F02708 
    R46396 BM311127 NM_002594 BM311717 BM922046 BE257514 W81189 BX095440 
    CB153565 AA385578 BM710272 BC005815 AU141149 BM512482 AI493521 BF439674 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PCSK2 expression in normal human tissues (normalized intensities)      PCSK2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTAAATTA
    PCSK2 Expression
    About this image


    PCSK2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Thyroid (Endocrine System)

    See PCSK2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PCSK2

    SOURCE GeneReport for Unigene cluster: Hs.315186
        SABiosciences Custom PCR Arrays for PCSK2
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PCSK2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCSK2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PCSK2 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcsk21 , 5 proprotein convertase subtilisin/kexin type 21, 5 89.59(n)1
    96.86(a)1
      2 (70.89 cM)5
    185491  NM_008792.41  NP_032818.11 
     1435461565 
    chicken
    (Gallus gallus)
    Aves PCSK21 proprotein convertase subtilisin/kexin type 2 79.88(n)
    92.69(a)
      395136  XM_419332.3  XP_419332.3 
    lizard
    (Anolis carolinensis)
    Reptilia PCSK26
    proprotein convertase subtilisin/kexin type 2
    85(a)
    1 ↔ 1
    1(126980784-127123060)
    African clawed frog
    (Xenopus laevis)
    Amphibia pcsk2-A2 convertase PC2 73.39(n)    X66493.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pcsk21 proprotein convertase subtilisin/kexin type 2 76.34(n)
    84.68(a)
      100004460  NM_001142266.1  NP_001135738.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta amon1 , 3 peptide hormone processing peptidase3
    amontillado1
    62(a)3
    62.68(n)1
    64.48(a)1
      432151  NM_057970.31  NP_477318.11 
    worm
    (Caenorhabditis elegans)
    Secernentea egl-31 , 3 prohormone convertase 23
    Protein EGL-31
    59(a)
    (best of 3)3
    59.51(n)1
    63.03(a)1
      V(10172368-10176338)3
    1794121  NM_001028561.21  NP_001023732.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KEX26
    Subtilisin-like protease (proprotein convertase), ...
    24(a)
    1 → many
    XIV(202428-204872)


    ENSEMBL Gene Tree for PCSK2 (if available)
    TreeFam Gene Tree for PCSK2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PCSK2 gene
    PCSK42  PCSK62  FURIN2  PCSK12  PCSK72  PCSK52  
    6 SIMAP similar genes for PCSK2 using alignment to 1 protein entry:     NEC2_HUMAN:
    PCSK1    PCSK4    FURIN    PCSK7    PCSK5    PCSK6

    PCSK2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5941 SNPs in PCSK2 are shown (see all 5941)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365484
    A colorectal cancer sample4--see VAR_0365482 D N mis40--------
    rs23281731,2
    C,F,Auntested117318430(+) TTAGCC/G/TAGGTA 3 -- int11EA 120
    rs1158874651,2
    C,F--17204816(+) ACATCT/CGAGCC 1 -- us2k11Minor allele frequency- C:0.07WA 118
    rs1912054791,2
    --17204856(+) GATACA/GAAAGT 1 -- us2k10--------
    rs1509570721,2
    --17204990(+) TTACAC/TAAAAA 1 -- us2k10--------
    rs60806081,2
    C,F,H--17205071(+) TGATGC/TTTCCT 1 -- us2k113Minor allele frequency- T:0.11NS EA NA 1026
    rs1117737081,2
    F--17205086(+) TACAGC/TGTATG 1 -- us2k12Minor allele frequency- T:0.03CSA WA 120
    rs749464861,2
    C,F--17205087(+) ACAGCG/ATATGT 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs768495521,2
    C,F--17205202(+) GGCCCA/GCAGCC 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1836777261,2
    C--17205218(+) GTATAC/GATACC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PCSK2 (17206752 - 17456752 bp, first 250kb of PCSK2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 variations for PCSK2 (see all 18):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659718CNV Deletion23128226
    esv3535CNV Deletion18987735
    esv2722248CNV Deletion23290073
    esv2722252CNV Deletion23290073
    esv1992600CNV Deletion18987734
    esv2722247CNV Deletion23290073
    dgv21e197CNV Deletion19546169
    esv2722249CNV Deletion23290073
    esv2722253CNV Deletion23290073
    nsv3308CNV Insertion18451855


    Human Gene Mutation Database (HGMD): PCSK2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PCSK2
    DNA2.0 Custom Variant and Variant Library Synthesis for PCSK2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 162151    OMIM disorders: --

    20/24 diseases for PCSK2 (see all 24):    About MalaCards
    glucagonoma    myocardial infarction    neuroepithelioma    islet cell tumor
    polycystic kidney disease    kidney disease    insulinoma    pancreatic endocrine tumor
    dwarfism    pituitary tumors    pituitary adenoma    hyperthyroidism
    pheochromocytoma    teratocarcinoma    hypothyroidism    adenoma
    obesity    alzheimer's disease    thyroiditis    ischemia


    PCSK2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/23 Novoseek inferred disease relationships for PCSK2 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adpkd 73.1 19 15001556 (2), 12829010 (1), 16223735 (1), 12525172 (1) (see all 13)
    neuroepithelioma 62.3 1 9881669 (1)
    insulinoma 56 7 2060650 (1), 9881908 (1), 1843283 (1), 14668731 (1) (see all 7)
    pituitary tumors 51.8 5 14709802 (2), 7962350 (1), 14709807 (1)
    polycystic kidney diseases 45.8 3 18694932 (1), 15001556 (1), 15336985 (1)
    glucagonoma 39.2 1 7829629 (1)
    pituitary adenoma 30.4 11 11081197 (4), 14709802 (1), 7923822 (1), 7747813 (1)
    pheochromocytoma 21.9 10 7819329 (3), 17102121 (3), 8206338 (3), 10530621 (1)
    cysts 21 1 16537653 (1)
    adenoma 18.2 9 7923822 (3), 7747813 (2), 11081197 (1)

    Genetic Association Database (GAD): PCSK2
    Human Genome Epidemiology (HuGE) Navigator: PCSK2 (10 documents)

    Export disorders for PCSK2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PCSK2 gene, integrated from 9 sources (see all 272):
    (articles sorted by number of sources associating them with PCSK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of the gene encoding human PC2, a prohormone processing enzyme. (PubMed id 7983775)1, 2, 9 Ohagi S.... Nanjo K. (1994)
    2. Identification and analysis of the gene encoding human PC2, a prohormone convertase expressed in neuroendocrine tissues. (PubMed id 1594602)1, 2, 9 Ohagi S.... Steiner D.F. (1992)
    3. Chromosomal assignments of the genes for neuroendocrine convertase PC1 (NEC1) to human 5q15-21, neuroendocrine convertase PC2 (NEC2) to human 20p11.1-11.2, and furin (mouse 7[D1-E2] region). (PubMed id 1765368)1, 3, 9 Seidah N.G....Chretien M. (1991)
    4. Identification of a human insulinoma cDNA encoding a novel mammalian protein structurally related to the yeast dibasic processing protease Kex2. (PubMed id 2154467)1, 2, 9 Smeekens S.P. and Steiner D.F. (1990)
    5. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PubMed id 21546767)1, 4 Murea M....Freedman B.I. (2011)
    6. Thirty new loci for age at menarche identified by a m eta-analysis of genome-wide association studies. (PubMed id 21102462)1, 4 Elks C.E....Murray A. (2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    8. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    9. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    10. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5126 HGNC: 8744 AceView: PCSK2 Ensembl:ENSG00000125851 euGenes: HUgn5126
    ECgene: PCSK2 H-InvDB: PCSK2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PCSK2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PCSK2 gene:
    Search GeneIP for patents involving PCSK2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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