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PCSK2 Gene

protein-coding   GIFtS: 65
GCID: GC20P017206

Proprotein Convertase Subtilisin/Kexin Type 2


(Previous symbol: NEC2)
  See PCSK2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PCSK2 Gene:
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)

GeneCards Summary for PCSK2 Gene:
PCSK2 (proprotein convertase subtilisin/kexin type 2) is a protein-coding gene. Diseases associated with PCSK2 include myocardial infarction. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011387.9  
Regulatory elements:
   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 Chromatin IP Primers for PCSK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NEC2_HUMAN, P16519 (See protein sequence)
Recommended Name: Neuroendocrine convertase 2 precursor  
Size: 638 amino acids; 70565 Da
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: 

  • Glycosylation2 at Asn375, Asn514, Asn524
  • Selected DME Specific Peptides for PCSK2 (P16519) (see all 18)
     GTSAAAP  CGVGVAY  SKVAGIR  GYTGKGV 


    See PCSK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000367131   ENSP00000262545   ENSP00000437458  
    Reactome Protein details: P16519

    PCSK2 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for PCSK2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected 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


    Find genes that share domains with PCSK2           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with PCSK2           About GenesLikeMe


    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 

    Find genes that share phenotypes with PCSK2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pcsk2tm1Dfs for PCSK2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PCSK2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PCSK2
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    miRNA
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    Selected qRT-PCR 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
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NEC2_HUMAN, P16519: Cytoplasmic vesicle, secretory vesicle. Note=Localized in the secretion granules
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (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--

    Find genes that share ontologies with PCSK2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PCSK2 About    
    See pathways by source

    SuperPathContained pathways About
    1Peptide hormone metabolism
    Peptide hormone metabolism0.30
    Insulin Processing0.30
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30


    Find genes that share SuperPaths with PCSK2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for PCSK2
        Insulin processing


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PCSK2
    Interactions:

        GeneGlobe Interaction Network for PCSK2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PCSK2 (P165193 ENSP000002625454) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    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): Selected biological process terms (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 ----

    Find genes that share ontologies with PCSK2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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

    Selected 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)



    Find genes that share compounds with PCSK2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PCSK2 gene (3 alternative transcripts): 
    NM_001201528.1  NM_001201529.2  NM_002594.4  

    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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    Selected qRT-PCR 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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      QuantiFast Probe-based Assays in human, mouse, rat PCSK2

    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 

    Selected AceView cDNA sequences (see all 100):

    BE257514 BU736860 BC001905 CB153565 BX095440 BM922046 M78863 BC005815 
    BM967041 BQ101104 W81189 NM_002594 BM311717 BM710272 CA947186 AU141149 
    F02708 BM704905 R46396 BM311127 AA385578 AW247231 BG699385 J05252 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PCSK2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 5 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
             Islets of Langerhans
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Lung (Respiratory System)
             Alveolar type II cells
    PCSK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCSK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.315186
        Custom PCR Arrays for PCSK2
    Primer
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PCSK2 gene from Selected species (see all 16)    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 79.29(n)
    90.85(a)
      395136  XM_004940214.1  XP_004940271.1 
    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 75.96(n)
    84.24(a)
      100004460  NM_001142266.1  NP_001135738.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta amon1 , 3 peptide hormone processing peptidase3
    amontillado1
    62(a)3
    62.98(n)1
    65.25(a)1
      432151  NM_057970.31  NP_477318.11 
    worm
    (Caenorhabditis elegans)
    Secernentea egl-31 , 3 prohormone convertase 23
    egl-31
    59(a)
    (best of 3)3
    59.57(n)1
    63.2(a)1
      V(10172368-10176338)3
    1794121  NM_001028561.31  NP_001023732.11 


    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)
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    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

    Find genes that share paralogs with PCSK2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PCSK2 (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) Selected 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 162151    OMIM disorders: --

    1 disease for PCSK2:    
    About MalaCards
    myocardial infarction


    Find genes that share disorders with PCSK2           About GenesLikeMe

    Selected 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)
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    PubMed articles for PCSK2 gene, integrated from 10 sources (see all 280):
    (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. (Nippon Rinsho 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. (Proc. Natl. Acad. Sci. U.S.A. 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....ChrActien M. (Genomics 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. (J. Biol. Chem. 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. (Am. J. Nephrol. 2011)
    6. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PubMed id 21102462)1, 4 Elks C.E....Murray A. (Nat. Genet. 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. (Mol. Med. 2010)
    8. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    9. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    10. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5126 HGNC: 8744 AceView: PCSK2 Ensembl:ENSG00000125851 euGenes: HUgn5126
    ECgene: PCSK2 H-InvDB: PCSK2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



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