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GP6 Gene

protein-coding   GIFtS: 61
GCID: GC19M055525

Glycoprotein VI (Platelet)

  See related diseases
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
Glycoprotein VI (Platelet)1 2     GPIV2 5
Glycoprotein 62 3     Platelet Collagen Receptor2
GPVI2 3     Platelet Glycoprotein VI2
BDPLT112 5     

External Ids:    HGNC: 143881   Entrez Gene: 512062   Ensembl: ENSG000000880537   OMIM: 6055465   UniProtKB: Q9HCN63   

Export aliases for GP6 gene to outside databases

Previous GC identifers: GC19M056387 GC19M055949 GC19M060201 GC19M060216 GC19M051846


(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 GP6 Gene:
This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a
receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation.
The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation
signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11
(BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
(provided by RefSeq, Dec 2011)

GeneCards Summary for GP6 Gene:
GP6 (glycoprotein VI (platelet)) is a protein-coding gene. Diseases associated with GP6 include cervix uteri carcinoma in situ, and chronic cervicitis. GO annotations related to this gene include collagen binding and receptor activity. An important paralog of this gene is LILRB4.

UniProtKB/Swiss-Prot: GPVI_HUMAN, Q9HCN6
Function: Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in
platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may
contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma-chain, the Src
kinases (likely Fyn/Lyn), the adapter protein LAT and leads to the activation of phospholipase C gamma2

Gene Wiki entry for GP6 (GPVI) 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:
NC_000019.10  NC_018930.2  NT_011109.17  NT_187693.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the GP6 gene promoter:
         HOXA9B   HOXA9   Sp1   NRSF form 1   AP-4   NRSF form 2   GATA-1   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGP6 promoter sequence
   Search Chromatin IP Primers for GP6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GP6


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

Entrez Gene cytogenetic band: 19q13.4   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.4

GP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GP6 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M055525:  view genomic region     (about GC identifiers)

Start:
55,525,073 bp from pter      End:
55,549,632 bp from pter
Size:
24,560 bases      Orientation:
minus strand

Selected alternative locations (see all 8):
Chr19-,NW_003571056 993,690-1,018,249      Chr19-,NW_003571059 932,069-956,628      Chr19-,NW_003571057 1,021,227-1,045,786     
Chr19-,NW_003571058 995,776-1,020,335      Chr19-,NW_003571054 917,103-941,662      Chr19-,NW_003571055 658,906-683,465     

(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, 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., 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: GPVI_HUMAN, Q9HCN6 (See protein sequence)
Recommended Name: Platelet glycoprotein VI precursor  
Size: 339 amino acids; 36866 Da
Subunit: Associated with Fc receptor gamma chain. The GPVI-FcRgamma complex is associated with the Src kinase
family Fyn and Lyn
1 PDB 3D structure from and Proteopedia for GP6:
2GI7 (3D)    
Secondary accessions: Q9HCN7 Q9UIF2
Alternative splicing: 3 isoforms:  Q9HCN6-1   Q9HCN6-2   Q9HCN6-3   (Has no transmembrane domain. Does not interact with Fc receptor gamma chain. Does not bind to collagen-like peptides. Ref.1 (BAB12247) sequence is in conflict in positions: 314:P->A, 323:K->T, 573:R->G, 606:F->L)

Explore the universe of human proteins at neXtProt for GP6: NX_Q9HCN6

Explore proteomics data for GP6 at MOPED

Post-translational modifications: 

  • N-linked glycosylation at Asn-92 is not required for the cell surface expression, but contributes to maximal
    adhesion to type I collagen, collagen-related peptide (CRP), and, to a lesser extent, to the snake venom C-type
    lectin convulxin (CVX)1
  • Glycosylation2 at Asn92
  • Modification sites at PhosphoSitePlus

  • See GP6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001077368.2  NP_001242946.2  NP_057447.5  

    ENSEMBL proteins: 
     ENSP00000394922   ENSP00000308782   ENSP00000334552   ENSP00000464922  
    Reactome Protein details: Q9HCN6

    GP6 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    GP6 Antibody Products:

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    GP6 Assay Products:

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    Cloud-Clone Corp. CLIAs for GP6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    2 InterPro protein domains:
     IPR013783 Ig-like_fold
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q9HCN6

    ProtoNet protein and cluster: Q9HCN6

    1 Blocks protein domain: IPB003599 Immunoglobulin subtype

    UniProtKB/Swiss-Prot: GPVI_HUMAN, Q9HCN6
    Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains


    GP6 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GPVI_HUMAN, Q9HCN6
    Function: Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in
    platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may
    contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma-chain, the Src
    kinases (likely Fyn/Lyn), the adapter protein LAT and leads to the activation of phospholipase C gamma2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS11027634
    GO:0004888transmembrane signaling receptor activity TAS10822077
    GO:0005515protein binding IPI1715582
    GO:0005518collagen binding TAS11027634
         
    GP6 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gp6):
     hematopoietic system  homeostasis/metabolism 

    GP6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gp6tm1Ware for GP6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GP6
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GP6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GP6

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GP6


    (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
    GPVI_HUMAN, Q9HCN6: Isoform 1: Cell membrane; Single-pass membrane protein
    GPVI_HUMAN, Q9HCN6: Isoform 2: Cell membrane; Single-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular3
    cytosol1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IEA--

    GP6 for ontologies           About GeneDecksing


    (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 GP6 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    2Formation of Fibrin Clot (Clotting Cascade)
    Blood Coagulation Signaling Pathways0.51
    3Focal adhesion
    ECM-receptor interaction0.31
    4CD28 co-stimulation
    GPVI-mediated activation cascade0.31
    5Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
    Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GP6
        Blood Coagulation Signaling Pathways


    3 Reactome Pathways for GP6
        Platelet Adhesion to exposed collagen
    GPVI-mediated activation cascade
    Cell surface interactions at the vascular wall

    1 PharmGKB Pathway for GP6
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for GP6):
        ECM-receptor interaction


    GP6 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GP6
    Interactions:

        GeneGlobe Interaction Network for GP6

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

    Selected Interacting proteins for GP6 (Q9HCN61, 2, 3 ENSP000003087824) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM2P621582, 3MINT-17793 MINT-17795 I2D: score=1 
    CALM3P621582, 3MINT-17793 MINT-17795 I2D: score=1 
    LYNP079481, 3EBI-515278,EBI-79452 I2D: score=3 
    CALM1P621582, 3, ENSP000003494674MINT-17793 MINT-17795 I2D: score=1 STRING: ENSP00000349467
    FYNP062413, ENSP000003576564I2D: score=3 STRING: ENSP00000357656
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007167enzyme linked receptor protein signaling pathway TAS9153205
    GO:0007596blood coagulation TAS--
    GO:0030168platelet activation TAS--
    GO:0050900leukocyte migration TAS--

    GP6 for ontologies           About GeneDecksing



    (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 GP6 (GPVI)

    Selected Novoseek inferred chemical compound relationships for GP6 gene (see all 30)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    convulxin 97.6 101 12881531 (5), 9341142 (4), 16014566 (3), 10666318 (3) (see all 43)
    lotrafiban 80.5 1 15370101 (1)
    jararhagin 74.1 12 10666318 (3), 10727949 (1), 15320694 (1)
    echicetin 71.9 2 15320694 (1)
    adp 71.7 26 15939050 (3), 15231520 (2), 17096705 (2), 12842985 (1) (see all 17)
    tyrosine 64 56 14656219 (4), 9295288 (2), 10666318 (2), 20040043 (2) (see all 30)
    thromboxane a2 63.9 7 9468482 (2), 17362227 (1), 11964287 (1), 10066433 (1) (see all 5)
    fibrinogen 62 12 15934989 (1), 11722284 (1), 15231520 (1), 11964287 (1) (see all 9)
    go 6976 48 1 15583006 (1)
    ristocetin 44.5 1 17539777 (1)

    1 PharmGKB related drug/compound annotation for GP6 gene    About this table
    Drug/compound PharmGKB Annotation
    aspirinCA  



    GP6 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GP6 gene (3 alternative transcripts): 
    NM_001083899.2  NM_001256017.2  NM_016363.5  

    Unigene Cluster for GP6:

    Glycoprotein VI (platelet)
    Hs.661752  [show with all ESTs]
    Unigene Representative Sequence: NM_001083899
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417454(uc002qik.3) ENST00000310373(uc002qil.3) ENST00000333884(uc010esq.3)
    ENST00000465648 ENST00000468239
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    Additional mRNA sequence: 

    AB035073.1 AB043819.1 AB043820.1 AB043821.1 BC069485.1 BC104832.1 BC111963.1 

    2 DOTS entries:

    DT.91715542  DT.91715543 

    Selected AceView cDNA sequences (see all 29):

    BF353862 BF353861 BF353841 BF204121 AB043819 BC069485 AA308708 BE294264 
    AB043820 AA494446 AB043821 NM_016363 BV189301 BF353858 BX283866 BF353812 
    BF353842 BF353837 BF353827 BF353843 BQ216894 AB035073 BF353835 BF205319 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GP6    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
    SP1:                          -                           
    SP2:                          -                           
    SP3:                                                      


    ECgene alternative splicing isoforms for GP6

    (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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    GP6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTGCAATA
    GP6 Expression
    About this image


    GP6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)
             Mature Endothelial Cells Blood Brain Barrier
    GP6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GP6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.661752

    UniProtKB/Swiss-Prot: GPVI_HUMAN, Q9HCN6
    Tissue specificity: Megakaryocytes and platelets

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GP6

    (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 chordates.

    Orthologs for GP6 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gp61 , 5 glycoprotein 6 (platelet)1, 5 73.01(n)1
    69.55(a)1
      7 (2.52 cM)5
    2438161  NM_001163014.11  NP_001156486.11 
     43687135 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    12(a)
    1 → many
    GL343329.1(823590-844642)


    ENSEMBL Gene Tree for GP6 (if available)
    TreeFam Gene Tree for GP6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GP6 gene
    LILRB42  KIR2DL42  LILRB12  KIR2DS42  LILRA62  LILRA52  IGSF12  KIR3DL12  
    OSCAR2  NCR12  LILRA42  ENSG000002177922  TARM12  KIR3DX12  LILRA32  LILRB52  
    KIR3DL32  LILRA12  KIR3DS12  KIR2DL12  LILRB22  A1BG2  KIR3DL22  LILRA22  
    KIR2DL32  FCAR2  LILRB32  
    Selected SIMAP similar genes for GP6 using alignment to 2 protein entries:     GPVI_HUMAN (see all proteins) (see all similar genes):
    LILRB3    LAIR1    KIR-G1    p58    LAIR2    p140
    KIR-K36    KIR-G2    KIR-K9    KIR-K15    KIR-K3    KIR-K78
    KIR3DL1    KIR-K65    KIR-K64    FCAR    KIR-K61    KIR3DX1

    GP6 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), 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 GP6 (see all 1070)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0665914
    Bleeding disorder, platelet-type 11 (BDPLT11)4--see VAR_0665912 S N mis40--------
    VAR_0665904
    Bleeding disorder, platelet-type 11 (BDPLT11)4--see VAR_0665902 R C mis40--------
    rs1445110751,2
    C--51875077(+) TGCCTC/TAGCCT 3 -- us2k10--------
    rs16544381,2
    C,F--51875096(+) GCTGGG/AACTAC 3 -- us2k12Minor allele frequency- A:0.25NA WA 4
    rs2020925271,2
    C--55526937(-) GTGTAA/GANNNN 24 -- int10--------
    rs678032291,2
    C--55531573(+) TAAAC-/CTTT  
            
    TTTTT
    3 -- int10--------
    rs1139634981,2
    F--55532029(+) TTGTGC/AATAGT 3 -- int11Minor allele frequency- A:0.00CSA 1
    rs711817281,2
    C--55532732(-) TTTTT-/TTGAGAT 24 -- int11Minor allele frequency- TT:0.00NA 2
    rs1117003101,2
    C,F--55533013(+) CCTCCC/TGAATA 3 -- int11Minor allele frequency- T:0.50NA 2
    rs1126094591,2
    C--55534213(+) CTGCTC/AAAGAA 24 -- int12Minor allele frequency- A:0.00NA CSA 2

    HapMap Linkage Disequilibrium report for GP6 (55525073 - 55549632 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GP6 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718937CNV Deletion23290073
    esv2667609CNV Deletion23128226
    nsv821557CNV Deletion20802225
    esv2718936CNV Deletion23290073
    dgv580e201CNV Deletion23290073
    esv2659880CNV Deletion23128226
    esv2718872CNV Deletion23290073
    esv2718938CNV Deletion23290073
    dgv579e201CNV Deletion23290073
    nsv833880CNV Loss17160897

    Human Gene Mutation Database (HGMD): GP6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GP6
    DNA2.0 Custom Variant and Variant Library Synthesis for GP6

    (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.)
    About This Section

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    OMIM gene information: 605546   
    OMIM disorders: 614201  
    UniProtKB/Swiss-Prot: GPVI_HUMAN, Q9HCN6
  • Bleeding disorder, platelet-type 11 (BDPLT11) [MIM:614201]: A mild to moderate bleeding disorder caused
    by defective platelet activation and aggregation in response to collagen. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for GP6 (see all 36):    
    About MalaCards
    cervix uteri carcinoma in situ    chronic cervicitis    bleeding disorder, platelet-type, 11    gray platelet syndrome
    coronary thrombosis    tangier disease    von willebrand's disease    thrombocytopenia
    myeloproliferative disorder    patent ductus arteriosus    purpura    pulmonary embolism
    venous thrombosis    thromboembolism    coronary heart disease    rabies
    lupus nephritis    coronary artery disease    nephritis    vascular disease

    3 diseases from the University of Copenhagen DISEASES database for GP6:
    Cervical cancer     Cervix uteri carcinoma in situ     Carcinoma

    GP6 for disorders           About GeneDecksing

    20 Novoseek inferred disease relationships for GP6 gene (see top 10)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thrombosis 59.1 15 15150079 (1), 16788317 (1), 18585516 (1), 8735822 (1) (see all 7)
    arterial thrombosis 58.1 4 15505105 (1), 16923742 (1), 15507524 (1)
    bleeding tendency 55.4 5 7530476 (2), 19065783 (1), 14675102 (1)
    abnormal platelets 53.8 2 1518178 (1), 17539777 (1)
    thrombocytopenia 35.2 4 18194481 (1), 18382762 (1), 15701726 (1)
    atherosclerotic plaque 34.7 2 15306180 (1), 15923400 (1)
    myocardial infarction 34.6 7 19686349 (1), 16250859 (1), 18231933 (1), 12417295 (1) (see all 6)
    bleeding 33.6 11 14652648 (2), 12359731 (1), 15505105 (1), 17059472 (1) (see all 10)
    collagen fibril 32.4 1 19486274 (1)
    coronary artery disease 31.8 7 18585516 (2), 19404545 (1), 16493486 (1), 20049463 (1) (see all 5)
    stroke 28.7 15 19686349 (7), 20122713 (2), 16250859 (1), 18231933 (1) (see all 5)
    coagulopathy 27.8 4 10961879 (1), 19552682 (1)
    purpura thrombocytopenic idiopathic 9.18 1 15150079 (1)
    myeloproliferative disorders 4.62 1 12829582 (1)
    cardiovascular diseases 0 1 16861347 (1)
    leukemia 0 1 15701720 (1)
    thromboembolism 0 2 11860304 (1), 17073609 (1)
    necrosis 0 6 18585516 (2), 20122713 (2), 16923742 (1), 17340467 (1)
    myocardial ischemia 0 2 16923742 (1), 17340467 (1)
    coronary heart disease 0 1 18528467 (1)

    Genetic Association Database (GAD): GP6
    Human Genome Epidemiology (HuGE) Navigator: GP6 (28 documents)

    Export disorders for GP6 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

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    PubMed articles for GP6 gene, integrated from 10 sources (see all 300):
    (articles sorted by number of sources associating them with GP6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, genomic structure, chromosomal localization, and alternative splice forms of the platelet collagen receptor glycoprotein VI. (PubMed id 11027634)1, 2, 3, 9 Ezumi Y.... Takayama H. (Biochem. Biophys. Res. Commun. 2000)
    2. Cloning, characterization, and functional studies of human and mouse glycoprotein VI: a platelet-specific collagen receptor from the immunoglobulin superfamily. (PubMed id 10961879)1, 2, 9 Jandrot-Perrus M.... Villeval J.-L. (Blood 2000)
    3. Gain- and loss-of-function mutants confirm the importance of apical residues to the primary interaction of human glycoprotein VI with collagen. (PubMed id 16405521)1, 2, 9 O'connor M.N.... Ouwehand W.H. (J. Thromb. Haemost. 2006)
    4. The influence of N-linked glycosylation on the function of platelet glycoprotein VI. (PubMed id 16014566)1, 2, 9 Kunicki T.J.... Furihata K. (Blood 2005)
    5. Structural basis for platelet collagen responses by the immune-type receptor glycoprotein VI. (PubMed id 16861347)1, 2, 9 Horii K.... Herr A.B. (Blood 2006)
    6. Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. (PubMed id 19549989)1, 2, 9 Dumont B.... Jandrot-Perrus M. (Blood 2009)
    7. A novel association of Fc receptor gamma-chain with glycoprotein VI and their co-expression as a collagen receptor in human platelets. (PubMed id 9295288)1, 2, 9 Tsuji M.... Takayama H. (J. Biol. Chem. 1997)
    8. Lack of association between aspirin responsiveness and seven candidate gene haplotypes in patients with symptomatic vascular disease. (PubMed id 19132198)1, 4, 9 Kunicki T.J....Rothwell P.M. (Thromb. Haemost. 2009)
    9. Genetics of platelet reactivity in normal, healthy individuals. (PubMed id 19740098)1, 4, 9 Kunicki T.J....Nugent D.J. (J. Thromb. Haemost. 2009)
    10. High loading dose of clopidogrel is unable to satisfactorily inhibit platelet reactivity in patients with glycoprotein IIIA gene polymorphism: a genetic substudy of PRAGUE-8 trial. (PubMed id 19530321)1, 4, 9 Motovska Z....Kala P. (amp 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: 51206 HGNC: 14388 AceView: GP6 Ensembl:ENSG00000088053 euGenes: HUgn51206
    ECgene: GP6 Kegg: 51206 H-InvDB: GP6

    (According to HUGE)
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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 GP6 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 GP6 gene:
    Search GeneIP for patents involving GP6

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



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