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

GP6 Gene

protein-coding   GIFtS: 62
GCID: GC19M055525

glycoprotein VI (platelet)

 Explore 32 diseases affiliated with
GP6 via our new
 Human Malady Compendium 
Biological research products
for GP6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Glycoprotein VI (Platelet)1 2     BDPLT112
GPVI1 2 3     Platelet Collagen Receptor2
Glycoprotein 62 3     Platelet Glycoprotein VI2
GPIV2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GP6:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GP6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Isoform 1: Cell membrane; Single-pass membrane protein
Subcellular location: Isoform 2: Cell membrane; Single-pass membrane protein
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HCN6

  • GP6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001077368.1  NP_001242946.1  NP_057447.4  

    ENSEMBL proteins: 
     ENSP00000394922   ENSP00000308782   ENSP00000334552   ENSP00000464922  
    Reactome Protein details: Q9HCN6
    Human Recombinant Protein Products: 
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    Novus Biologicals GP6 Proteins
    Novus Biologicals GP6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GP6

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    GP6 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for GP6


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GP6 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR013783 Ig-like_fold
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q9HCN6

    ProtoNet protein and cluster: Q9HCN6

    1 Blocks protein family: IPB003599 Immunoglobulin subtype

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GP6

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


    Animal Models:
         Mouse knock-out Gp6tm1Ware for GP6
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gp6):
     hematopoietic system  homeostasis/metabolism 

    GP6 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Platelet activation, signaling and aggregation
    Platelet activation, signaling and aggregation1.00
    Hemostasis0.43
    2GPVI-mediated activation cascade
    GPVI-mediated activation cascade1.00
    GPVI stimulates PI3K beta, gamma0.42
    3Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
    Platelet Aggregation Inhibitor Pathway, Pharmacodynamics1.00
    4ECM-receptor interaction
    ECM-receptor interaction1.00
    5Cell surface interactions at the vascular wall
    Cell surface interactions at the vascular wall1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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


    5/6        Reactome Pathways for GP6 (see all 6)
        Hemostasis
    Platelet Adhesion to exposed collagen
    Platelet activation, signaling and aggregation
    Cell surface interactions at the vascular wall
    GPVI stimulates PI3K beta, gamma

    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GP6

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

    5/46 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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GP6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GP6
    10/30 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about GP6 / GPVI 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GP6 gene (3 alternative transcripts): 
    NM_001083899.1  NM_001256017.1  NM_016363.4  

    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 cDNA sequence: 

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

    2 DOTS entries:

    DT.91715542  DT.91715543 

    24/29 AceView cDNA sequences (see all 29):

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

    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™, 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

    GP6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACTGCAATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    GP6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See GP6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GP6

    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GP6 gene from 6 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia GP61 glycoprotein VI (platelet) 98.04(n)
    97.06(a)
      456429  XM_513024.3  XP_513024.3 
    mouse
    (Mus musculus)
    Mammalia Gp61 , 5 glycoprotein 6 (platelet)1, 5 72.58(n)1
    70.32(a)1
      7 (2.52 cM)5
    2438161  NM_001163014.11  NP_001156486.11 
     43687135 
    dog
    (Canis familiaris)
    Mammalia GP61 glycoprotein VI (platelet) 80.3(n)
    73.48(a)
      484303  XM_541419.3  XP_541419.3 
    platypus
    (Ornithorhynchus anatinus)
    Mammalia TARM16
    --
    2(a)
    1 → many
    Contig13469(2733-7618)
    chicken
    (Gallus gallus)
    Aves --
    --
    (see all 59)
    Uncharacterized protein
    (see all 59)
    9(a)
    7(a)
    (see all 59)
    many ↔ many
    many ↔ many
    (see all 59)
    Un(44681275-44688372)
    20(22671-25437)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    --
    9(a)
    9(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    GL343329.1(823590-844642)
    GL343329.1(1200149-1218701)
            Species with no ortholog for GP6

    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)
    About This Section
    Paralogs for GP6 gene
    KIR2DL42  LILRB42  LILRB12  LILRA62  IGSF12  LILRA52  KIR3DL12  OSCAR2  
    NCR12  LILRA42  ENSG000002177922  TARM12  KIR3DX12  LILRA32  LILRB52  KIR3DL32  
    LILRA12  KIR2DL12  A1BG2  LILRB22  KIR2DL22  LILRA22  KIR3DL22  KIR2DL32  
    FCAR2  LILRB32  
    18/33 SIMAP similar genes for GP6 using alignment to 2 protein entries:     GPVI_HUMAN (see all proteins) (see all similar genes):
    LILRB3    LAIR1    KIR-G1    LAIR2    p58    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, UniProtKB, 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

    10/852 NCBI SNPs in GP6 are shown (see all 852    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs730572821,2
    C,F,--51862041(+) TGGCCC/TCTCCC 1 -- int11Minor allele frequency- T:0.07NA 120
    rs16544381,2
    C,--51875096(+) GCTGGG/AACTAC 3 -- us2k12Minor allele frequency- A:0.25NA WA 4
    rs16544091,2
    C,F,A,--55524620(+) TAATTG/TTTTAT 27 -- ds500110Minor allele frequency- T:0.40EA NA WA 388
    rs1170038771,2
    F,--55524699(+) ATCCCG/ACCTCA 3 -- ds50011Minor allele frequency- A:0.03EA 120
    rs1894948991,2
    --55524736(+) TGTGAA/GCCACT 3 -- ds50010--------
    rs783203851,2
    C,--55524747(+) GTGCC-/TAGGCT 27 -- ds50011Minor allele frequency- T:0.00CSA 2
    rs16544101,2
    C,F,A,H,--55524813(+) TCTGTC/TTTCTG 27 -- ds500131Minor allele frequency- T:0.47NA NS EA WA CSA 4890
    rs1806750291,2
    --55524874(+) TTCTTA/GCATTT 3 -- ds50010--------
    rs104163801,2
    C,F,A,H,--55524905(+) TTCCCG/ATTCCC 27 -- ds500123Minor allele frequency- A:0.29NS EA WA NA CSA 2348
    rs1861295291,2
    --55524953(+) CAGCCA/GTCGTC 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for GP6 (55525073 - 55549632 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for GP6
         2 CNVs: 8877 3201
         7 Indels: 89327 78279 34353 78278 78277 89326 73434
    Human Gene Mutation Database (HGMD): GP6

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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

    GP6 for disorders           About GeneDecksing

    OMIM gene information: 605546    OMIM disorders: --

    UniProtKB/Swiss-Prot: GPVI_HUMAN, Q9HCN6
  • Defects in GP6 are the cause of bleeding disorder platelet-type 11 (BDPLT11) [MIM:614201]. BDPLT11 is a mild
  • to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen

    20/32 diseases for GP6 (see all 32):    About MalaCards
    bleeding disorder    cervix uteri carcinoma in situ    gray platelet syndrome    patent ductus arteriosus
    von willebrand's disease    coronary heart disease    myeloproliferative disorder    cerebrovascular accident
    myocardial infarction    atrial fibrillation    thrombosis    coronary thrombosis
    tangier disease    lupus nephritis    dysplasia of cervix    thrombocytopenia
    purpura    nephritis    hepatitis c    chronic cervicitis

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

    10/20 Novoseek disease relationships for GP6 gene (see all 20)    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)

    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

    PubMed articles for GP6 gene, integrated from 9 sources (see all 288):
    (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. (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. (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. (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. (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. (2006)
    6. Absence of collagen-induced platelet activation cause d by compound heterozygous GPVI mutations. (PubMed id 19549989)1, 2, 9 Dumont B....Jandrot-Perrus M. (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. (1997)
    8. Platelet membrane collagen receptor glycoprotein VI polymorphism is associated with coronary thrombosis and fatal myocardial infarction in middle-aged men. (PubMed id 15306180)1, 4, 9 Ollikainen E....Karhunen P.J. (2004)
    9. [Study on T13254C polymorphism of the platelet membrane glycoprotein VI in Chinese Han population] (PubMed id 15946524)1, 4 Yu Z.Q....Ruan C.G. (2005)
    10. [Association of matrix metalloproteinase-9 and platelet membrane glycoprotein VI polymorphisms with acute coronary syndrome] (PubMed id 16080811)1, 4 Qin Q....Hui R.T. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51206 HGNC: 14388 AceView: GP6 Ensembl:ENSG00000088053 euGenes: HUgn51206
    ECgene: GP6 Kegg: 51206 H-InvDB: GP6

    (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 GP6 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 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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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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