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GP9 Gene

protein-coding   GIFtS: 69
GCID: GC03P128779

Glycoprotein IX (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 IX (Platelet)1 2     CD42a2
Glycoprotein 92 3     Platelet Glycoprotein IX2
GP-IX2 3     CD42a Antigen3
GPIX2 3     

External Ids:    HGNC: 44441   Entrez Gene: 28152   Ensembl: ENSG000001697047   OMIM: 1735155   UniProtKB: P147703   

Export aliases for GP9 gene to outside databases

Previous GC identifers: GC03P125730 GC03P129161 GC03P130062 GC03P130100 GC03P130262 GC03P126166


(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 GP9 Gene:
This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1
noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a
receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha
and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a
cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large
platelets and have a clinical bleeding tendency. (provided by RefSeq, Oct 2008)

GeneCards Summary for GP9 Gene:
GP9 (glycoprotein IX (platelet)) is a protein-coding gene. Diseases associated with GP9 include bernard-soulier syndrome type c, and bernard-soulier syndrome. An important paralog of this gene is GP1BB.

UniProtKB/Swiss-Prot: GPIX_HUMAN, P14770
Function: The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to
blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical
initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib

Gene Wiki entry for GP9 (Glycoprotein IX) 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_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GP9 gene promoter:
         AML1a   HTF   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGP9 promoter sequence
   Search Chromatin IP Primers for GP9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GP9


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

Entrez Gene cytogenetic band: 3q21.3   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21.3

GP9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GP9 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P128779:  view genomic region     (about GC identifiers)

Start:
128,779,610 bp from pter      End:
128,781,253 bp from pter
Size:
1,644 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GPIX_HUMAN, P14770 (See protein sequence)
Recommended Name: Platelet glycoprotein IX precursor  
Size: 177 amino acids; 19046 Da
Subunit: Two GP-Ib beta are disulfide-linked to one GP-Ib alpha. GP-IX is complexed with the GP-Ib heterodimer via
a non covalent linkage
Miscellaneous: Platelet activation apparently involves disruption of the macromolecular complex of GP-Ib with the
platelet glycoprotein IX (GP-IX) and dissociation of GP-Ib from the actin-binding protein
1 PDB 3D structure from and Proteopedia for GP9:
3REZ (3D)    
Secondary accessions: Q14445 Q8N1D1 Q92525

Explore the universe of human proteins at neXtProt for GP9: NX_P14770

Explore proteomics data for GP9 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn60

  • See GP9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000165.1  
    ENSEMBL proteins: 
     ENSP00000303942  
    Reactome Protein details: P14770

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    GP9 Antibody Products:

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    GP9 Assay Products:

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    Cloud-Clone Corp. CLIAs for GP9


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    2 InterPro protein domains:
     IPR000483 Cys-rich_flank_reg_C
     IPR000372 LRR-contain_N

    Graphical View of Domain Structure for InterPro Entry P14770

    ProtoNet protein and cluster: P14770

    3 Blocks protein domains:
    IPB000372 Cysteine-rich flanking region
    IPB000483 Cysteine-rich flanking region
    IPB001611 Leucine-rich repeat signature


    UniProtKB/Swiss-Prot: GPIX_HUMAN, P14770
    Similarity: Contains 1 LRR (leucine-rich) repeat
    Similarity: Contains 1 LRRCT domain
    Similarity: Contains 1 LRRNT domain


    GP9 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: GPIX_HUMAN, P14770
    Function: The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to
    blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical
    initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib

         Genatlas biochemistry entry for GP9:
    platelet glycoprotein IX (20kDa),non covalently bound to the GP1B complex in the von Willebrand receptor

    Phenotypes:
         2 GenomeRNAi human phenotypes for GP9:
     Cells with protrusions  Synthetic lethal with Ras 

         1 MGI phenotypic allele for Gp9 (no phenotypes)

    GP9 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GP9
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GP9
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GP9

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    miRTarBase miRNAs that target GP9:
    hsa-mir-335-5p (MIRT017185)

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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
    GPIX_HUMAN, P14770: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    cytosol1
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    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 TAS2771955

    GP9 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 GP9 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Intrinsic Pathway0.00
    Blood Coagulation Signaling Pathways0.51
    2Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    3Integrin alphaIIb beta3 signaling
    Platelet Aggregation (Plug Formation)0.73
    4Focal adhesion
    ECM-receptor interaction0.31
    5Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
    Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GP9
        Blood Coagulation Signaling Pathways



    4 Reactome Pathways for GP9
        Platelet Adhesion to exposed collagen
    Intrinsic Pathway
    GP1b-IX-V activation signalling
    Platelet Aggregation (Plug Formation)

    1 PharmGKB Pathway for GP9
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    2 Kegg Pathways  (Kegg details for GP9):
        ECM-receptor interaction
    Hematopoietic cell lineage


    GP9 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GP9
    Interactions:

        GeneGlobe Interaction Network for GP9

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

    Selected Interacting proteins for GP9 (P147702, 3 ENSP000003039424) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GP1BBP132242, 3, ENSP000003833824MINT-6742751 MINT-6742907 I2D: score=1 STRING: ENSP00000383382
    GP1BAP073592, ENSP000003293804MINT-6742751 MINT-6742907 STRING: ENSP00000329380
    APPBP2Q926243, ENSP000000831824I2D: score=2 STRING: ENSP00000083182
    CRKP461083, ENSP000003005744I2D: score=2 STRING: ENSP00000300574
    PLSCR1O151623I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007596blood coagulation TAS--
    GO:0007597blood coagulation, intrinsic pathway TAS--
    GO:0030168platelet activation TAS--

    GP9 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 GP9 (GPIX)

    1 DrugBank Compound for GP9    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Quinine6'-Methoxycinchonidine (see all 6)130-95-0targetother12738668

    9 Novoseek inferred chemical compound relationships for GP9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ristocetin 73 1 2316510 (1)
    quinine 44.7 7 1709374 (2), 9746776 (2), 7532036 (1)
    adp 22.2 1 8608229 (1)
    asparagine 20.9 3 8481514 (1), 15609295 (1)
    serine 6.48 7 17046291 (2), 8481514 (1), 9163595 (1), 15609295 (1)
    cysteine 0.737 2 8972003 (1)
    threonine 0.186 3 17046291 (2), 15609295 (1)
    fibrinogen 0 2 15118653 (1)
    aspartate 0 2 8481514 (1)



    GP9 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,
    Conferences by KenesGroup, 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 GP9 gene: 
    NM_000174.3  

    Unigene Cluster for GP9:

    Glycoprotein IX (platelet)
    Hs.1144  [show with all ESTs]
    Unigene Representative Sequence: BI767815
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000307395(uc003elm.2)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat GP9
      QuantiFast Probe-based Assays in human, mouse, rat GP9

    Additional mRNA sequence: 

    BC030229.1 M25827.1 X52997.1 

    1 DOTS entry:

    DT.108278 

    15 AceView cDNA sequences:

    BX281420 BM971739 BI833212 BU731152 NM_000174 BV199081 AI191393 BC030229 
    X52997 M25827 BI767815 BM694545 AA701315 N64220 AI382849 

    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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    GP9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCGCTGGG
    GP9 Expression
    About this image


    GP9 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
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Proerythroblasts Hematopoietic Bone Marrow
             Platelets and megakaryocytes like cells
             cd14+ cells   
     
     Umbilical Cord (Extraembryonic Tissues)
             cord blood   
    GP9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GP9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1144
        Custom PCR Arrays for GP9
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GP9

    (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 GP9 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gp91 , 5 glycoprotein 9 (platelet)1, 5 76.6(n)1
    72.19(a)1
      6 (39.13 cM)5
    543681  NM_018762.11  NP_061232.11 
     877781365 
    chicken
    (Gallus gallus)
    Aves GP91 glycoprotein IX (platelet) 50.88(n)
    45.86(a)
      415971  XM_414314.3  XP_414314.1 
    lizard
    (Anolis carolinensis)
    Reptilia GP96
    glycoprotein IX (platelet)
    39(a)
    1 ↔ 1
    2(159262420-159262947)
    zebrafish
    (Danio rerio)
    Actinopterygii GP96
    glycoprotein IX (platelet)
    21(a)
    1 ↔ 1
    23(4744165-4747089) ENSDARG00000090638


    ENSEMBL Gene Tree for GP9 (if available)
    TreeFam Gene Tree for GP9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GP9 gene
    GP1BB2  
    1 SIMAP similar gene for GP9 using alignment to 2 protein entries:     GPIX_HUMAN (see all proteins):
    GP1BB

    GP9 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 GP9 (see all 115)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289333781,2,,4
    CBernard-Soulier syndrome (BSS)4 pathogenic1128763741(+) GCCCAC/TGTACC 2 R C mis1 ese30--------
    rs289333771,2,,4
    CBernard-Soulier syndrome (BSS)4 pathogenic1128763838(+) CCACCC/TTCTGC 2 P L mis1 ese30--------
    rs50307641,2,,4
    C,FBernard-Soulier syndrome (BSS)4 pathogenic1128763853(+) CAACAA/GCAGCC 2 N S mis13Minor allele frequency- G:0.00NA EU 5613
    rs37961301,2,,4
    C,FBernard-Soulier syndrome (BSS)4 --128764137(+) TGGTCG/ACCGTG 2 /T /A mis11Minor allele frequency- A:0.17EA 120
    VAR_0249964
    Bernard-Soulier syndrome (BSS)4--see VAR_0249962 L P mis40--------
    VAR_0052634
    Bernard-Soulier syndrome (BSS)4--see VAR_0052632 D G mis40--------
    VAR_0250084
    Bernard-Soulier syndrome (BSS)4--see VAR_0250082 C Y mis40--------
    VAR_0249994
    Bernard-Soulier syndrome (BSS)4--see VAR_0249992 F S mis40--------
    rs1219180371,2
    Cpathogenic1128763883(+) AGCCTC/TTGACC 2 S F mis10--------
    rs764083121,2
    --128760754(+) TAAAGC/TGGCTT 1 -- us2k10--------
    rs1923272511,2
    --128760755(+) AAAGCA/GGCTTT 1 -- us2k10--------
    rs1405692351,2
    --128760777(+) GCTCTC/TTGACT 1 -- us2k10--------
    rs1824617601,2
    --128760849(+) CCTGCA/GTCACT 1 -- us2k10--------
    rs67656511,2
    C,F,A,H--128760966(+) TATCCC/TGTGCC 1 -- us2k127Minor allele frequency- T:0.24NS EA NA WA CSA 2496
    rs1456436681,2
    --128760983(+) GCAGAA/TGGGTA 1 -- us2k10--------
    rs1381751961,2
    C--128761116(+) CATTTA/GTTTGT 1 -- us2k10--------
    rs1879355041,2
    --128761159(+) ATCTAC/TGTTGA 1 -- us2k10--------
    rs1491378891,2
    --128761167(+) TGATCG/TAGTTT 1 -- us2k10--------
    rs49279261,2
    C,F,A,H--128761356(+) GGAGGC/TGGAAC 1 -- us2k120Minor allele frequency- T:0.05NA EA NS WA CSA 2938
    rs758961851,2
    C--128761589(+) CTCTCA/CGGGCC 1 -- us2k10--------
    rs1916187591,2
    --128761686(+) ACTCAA/CCCTGC 1 -- us2k10--------
    rs1840979921,2
    --128761692(+) CCTGCC/TTGGCC 1 -- us2k10--------
    rs1483723671,2
    --128761696(+) CTTGGC/TCATGC 1 -- us2k10--------
    rs1475019561,2
    C--128761808(+) TCAACA/GAAGTG 1 -- us2k10--------
    rs1873630951,2
    --128761913(+) CGGAGA/TCTCGC 1 -- us2k10--------
    rs1380129141,2
    --128761970(+) CACCTC/GTGCCT 1 -- us2k10--------
    rs1164613701,2
    C,F--128762117(+) AACCAT/CAGGCC 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1434768381,2
    --128762231(+) CACCAC/TGGCAC 1 -- us2k10--------
    rs68078761,2
    C,F,H--128762804(+) ATTACC/TCAGCA 1 -- int18Minor allele frequency- T:0.00NS EA NA 994
    rs1394870871,2
    --128762847(+) CTGTCC/TCTTTA 1 -- int10--------
    rs1496629661,2
    C--128762884(+) CCTCTA/GAGACA 1 -- int10--------
    rs1922716951,2
    --128762897(+) ATCTCC/TTTGGC 1 -- int10--------
    rs1853282831,2
    --128762921(+) GTGAGC/TTGATT 1 -- int10--------
    rs67839331,2
    C,F--128763029(+) CCgagA/Gcccga 1 -- int11Minor allele frequency- G:0.00NA 2018
    rs1155629201,2
    C,F--128763205(+) TTCTGC/TATCTG 1 -- int11Minor allele frequency- T:0.03NA 120
    rs1902094411,2
    --128763242(+) GGTGGA/GGGGTG 1 -- int10--------
    rs1484750691,2
    --128763305(+) GTGGTC/TCTGGG 1 -- int10--------
    rs1824645501,2
    C--128763423(+) ATCCAC/GAGCCG 1 -- int10--------
    rs1441002721,2
    C--128763440(+) CCGCCC/TGGCCT 1 -- ut510--------
    rs1464747081,2
    --128763477(+) AGGCCC/TGGGCT 1 -- ut510--------
    rs1841633571,2
    --128763550(+) AAGGGA/CGGTGA 1 -- ut510--------
    rs1158548181,2
    F--128763581(+) GGCTCC/TGCTAC 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1884074871,2
    C--128763602(+) CTTGCC/TGTCCC 1 -- int10--------
    rs1121630541,2
    C--128763615(+) AGGATC/TGGTCC 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs2017455051,2
    --128763631(+) GCCAGA/GCCCTC 1 -- int10--------
    rs2003760431,2
    --128763689(+) GGAGCC/TCTGTT 2 A syn10--------
    rs1476759041,2
    C,F--128763751(+) CTGCCG/ACGCCC 2 /H /R mis11Minor allele frequency- A:0.00NA 4132
    rs2017554371,2
    --128763794(+) GGCCAC/TGGACT 2 H syn10--------
    rs60691,2
    C,F--128763803(+) CTCACG/AGCCCT 2 /T syn1 ese35Minor allele frequency- A:0.04MN WA EA NA EU 5109
    rs1454720501,2
    F--128763874(+) GCCCCC/TGGGAG 2 P L mis11Minor allele frequency- T:0.00NA 4526
    rs2006405941,2
    C--128763907(+) GCAGAC/TCCTCG 2 T I mis10--------
    rs1379943461,2
    C,F--128763912(+) CCCTCG/AATGTG 2 /N /D mis12Minor allele frequency- A:0.00NA EU 5859
    rs1426920111,2
    C--128763920(+) GTGACG/ACAGAA 2 /T syn11Minor allele frequency- A:0.00NA 4540
    rs1460259581,2
    C,F--128763961(+) TCTGCG/ACCTCT 2 /H /R mis11Minor allele frequency- A:0.00NA 4444
    rs2013414491,2
    --128764000(+) GCTGCA/GGGTCC 2 Q R mis10--------
    rs2004899271,2
    C--128764005(+) AGGTCC/TGCTGT 2 R C mis10--------
    rs2022291011,2
    C--128764039(+) TGGCCC/TGCTGG 2 P L mis10--------
    rs1443455171,2
    C--128764116(+) GGGTCC/TTGTGG 2 L syn10--------
    rs1168210501,2
    C--128764125(+) GGGACA/GTGGCG 2 M V mis10--------
    rs1811755421,2
    C--128764159(+) CCTGGA/CTCTTC 2 D A mis10--------
    rs1150051141,2
    C,F--128764212(+) CCAGGC/TCCCCA 1 -- ut311Minor allele frequency- T:0.16WA 118
    rs1510577121,2
    --128764404(+) TGGCTA/CGATTT 1 -- ds50010--------
    rs1858833281,2
    --128764602(+) CAGCTC/TTGCAC 1 -- ds50010--------
    rs20621261,2
    C,F,H--128764723(-) TCTGTC/TGTGGG 1 -- ds500110Minor allele frequency- T:0.01MN NS EA NA 1272
    rs1501839951,2
    --128764754(+) TCCATC/TACGGC 1 -- ds50010--------
    rs1458769141,2
    C--128764798(+) AGGGCC/GCACCT 1 -- ds50010--------
    rs582187281,2
    C--128764822(+) CCTCCA/GTCTTC 1 -- ds50010--------
    rs114043621,2
    C--128781258(+) GATTT-/TTTTTT 1 -- ds50010--------
    rs1997246071,2
    C--128781271(-) GAGGGA/GAAAAA 1 -- ds50010--------
    rs1409293001,2
    ----128763773(+) GGGCTG/ATGGGT 2 /L syn11Minor allele frequency- A:0.00NA 4014
    rs3681168211,2
    ----128764026(+) GCCTCA/GCTGCC 2 T A mis10--------
    rs3690763281,2
    ----128760756(+) AAGCGC/GCTTTC 1 -- us2k10--------
    rs3759640591,2
    ----128762961(+) GGTAGA/GGGAGC 1 -- int10--------
    rs3747075421,2
    ----128763191(+) CCTGTC/GCTGCT 1 -- int10--------
    rs3760327771,2
    ----128764058(+) ACAGGC/TTACCA 2 G syn10--------
    rs3745428551,2
    ----128762372(+) GGTCAC/GGCTCC 1 -- us2k10--------
    rs3698465631,2
    ----128781595(+) GCCCC-/CTGGAG 1 -- ds50010--------
    rs3713998781,2
    ----128762917(+) ATGAGG/TAGTTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for GP9 (128779610 - 128781253 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GP9:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv5251n71CNV Loss21882294
    nsv877471CNV Loss21882294
    dgv5252n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): GP9
    Locus Specific Mutation Databases (LSDB): GP9

    Site Specific Mutation Identification with PCR Assays
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    (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

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    OMIM gene information: 173515   
    OMIM disorders: 231200  
    UniProtKB/Swiss-Prot: GPIX_HUMAN, P14770
  • Bernard-Soulier syndrome (BSS) [MIM:231200]: A coagulation disorder characterized by a prolonged bleeding
    time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 14 diseases for GP9:    
    About MalaCards
    bernard-soulier syndrome type c    bernard-soulier syndrome    bernard-soulier syndrome, type a2    gray platelet syndrome
    glanzmann's thrombasthenia    thrombasthenia    von willebrand's disease    thrombocytopenia
    sepsis    liver disease    endotheliitis    multiple myeloma
    myeloma    leukemia

    2 diseases from the University of Copenhagen DISEASES database for GP9:
    Bernard-Soulier syndrome     Thrombocytopenia

    GP9 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for GP9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bernard-soulier syndrome 98.1 24 9886312 (2), 11167791 (2), 8049428 (1), 12850844 (1) (see all 20)
    coagulopathy 77.1 4 16268478 (1), 18064328 (1), 16251900 (1), 10590056 (1)
    platelet disorder 76.2 1 15550031 (1)
    gray platelet syndrome 75 1 8608228 (1)
    thrombocytopenia 62.6 2 16251900 (1), 9746775 (1)
    bleeding 33.8 4 9886312 (2), 19404517 (1)

    Genatlas disease: GP9
    Bernard-Soulier syndrome

    Genetic Association Database (GAD): GP9
    Human Genome Epidemiology (HuGE) Navigator: GP9 (3 documents)

    Export disorders for GP9 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 GP9 gene, integrated from 10 sources (see all 130):
    (articles sorted by number of sources associating them with GP9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. (PubMed id 9163595)1, 2, 4, 9 Noris P.... von dem Borne A.E.G.K. (Br. J. Haematol. 1997)
    2. Human platelet glycoprotein IX. Characterization of cDNA and localization of the gene to chromosome 3. (PubMed id 2253772)1, 2, 3, 9 Hickey M.J.... Roth G.J. (FEBS Lett. 1990)
    3. Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. (PubMed id 11167791)1, 2, 9 Rivera C.E....Rick M.E. (Br. J. Haematol. 2001)
    4. Characterization of the gene encoding human platelet glycoprotein IX. (PubMed id 8429020)1, 2, 9 Hickey M.J. and Roth G.J. (J. Biol. Chem. 1993)
    5. A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. (PubMed id 9886312)1, 2, 9 Noris P.... Balduini C.L. (Br. J. Haematol. 1998)
    6. Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome. (PubMed id 10583255)1, 2, 9 Kunishima S....Saito H. (Br. J. Haematol. 1999)
    7. Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome. (PubMed id 9432024)1, 4, 9 Suzuki K....Sasaki H. (Br. J. Haematol. 1997)
    8. Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. (PubMed id 8481514)1, 2, 9 Wright S.D.... Tuddenham E.G. (Blood 1993)
    9. A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient. (PubMed id 11758225)1, 2, 9 Wang Z.... Han Y. (Zhonghua Xue Ye Xue Za Zhi 2001)
    10. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. (PubMed id 15477207)1, 4, 9 Noris P....Balduini C.L. (Haematologica 2004)

    (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)
    About This Section

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    Entrez Gene: 2815 HGNC: 4444 AceView: GP9 Ensembl:ENSG00000169704 euGenes: HUgn2815
    ECgene: GP9 Kegg: 2815 H-InvDB: GP9

    (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 GP9 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GP9[genesymbol]

    (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 GP9 gene:
    Search GeneIP for patents involving GP9

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



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