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

GP9 Gene

protein-coding   GIFtS: 68
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)
About This Section

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

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, and among its related super-pathways are Formation of Fibrin Clot (Clotting Cascade) and Hemostasis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GP9

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

UniProtKB/Swiss-Prot: 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
Subcellular location: Membrane; Single-pass type I membrane protein
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
Secondary accessions: Q14445 Q8N1D1 Q92525

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

Explore proteomics data for GP9 at MOPED 

GP9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

GP9 Protein Expression

REFSEQ proteins: NP_000165.1  
ENSEMBL proteins: 
 ENSP00000303942  
Reactome Protein details: P14770
Human Recombinant Protein Products for GP9: 
Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Protein for GP9
OriGene Protein Over-expression Lysate for GP9
OriGene MassSpec for GP9 
OriGene Custom Protein Services for GP9
GenScript Custom Purified and Recombinant Proteins Services for GP9
Novus Biologicals GP9 Proteins
Novus Biologicals GP9 Lysates
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
ProSpec Recombinant Protein for GP9
Cloud-Clone Corp. Proteins for GP9 

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 TAS2771955

GP9 for ontologies           About GeneDecksing



GP9 Antibody Products: 
EMD Millipore Mono- and Polyclonal Antibodies for the study of GP9
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Abcam antibodies for GP9
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ThermoFisher Antibodies for GP9
LSBio Antibodies in human, mouse, rat for GP9 

Assay Products for GP9: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for GP9
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for GP9
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for GP9 
Cloud-Clone Corp. CLIAs for GP9


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: 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 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for GP9 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GP9

   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 

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GP9
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Inhib. RNA
Products:
    
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GP9

Gene Editing
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Sirion Biotech Customized adenovirus for overexpression of GP9

Clone
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OriGene clones in human, mouse for GP9 (see all 6)
OriGene ORF clones in mouse, rat for GP9
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GenScript: all cDNA clones in your preferred vector: GP9 (NM_000174)
Sino Biological Human cDNA Clone for GP9
DNA2.0 Custom Codon Optimized Gene Synthesis Service for GP9
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GP9
Sirion Biotech Customized lentivirus for stable overexpression of GP9 
                     Customized lentivirus expression plasmids for stable overexpression of GP9 

Cell Line
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Search LifeMap BioReagents cell lines for GP9
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GP9


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

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

SuperPathContained pathways About
1Formation of Fibrin Clot (Clotting Cascade)
Formation of Fibrin Clot (Clotting Cascade)0.59
Blood Coagulation Signaling Pathways0.51
Intrinsic Pathway0.59
2Platelet activation, signaling and aggregation
Platelet activation, signaling and aggregation0.43
Hemostasis0.43
3Integrin alphaIIb beta3 signaling
Platelet Aggregation (Plug Formation)0.73
4Non-integrin membrane-ECM interactions
ECM-receptor interaction0.42
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



5/7        Reactome Pathways for GP9 (see all 7)
    Hemostasis
Platelet Adhesion to exposed collagen
Formation of Fibrin Clot (Clotting Cascade)
GP1b-IX-V activation signalling
Intrinsic Pathway

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

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GP9

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

5/18 Interacting proteins for GP9 (P147702, 3 ENSP000003039424) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GP9 for compounds           About GeneDecksing

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

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)

Search CenterWatch for drugs/clinical trials and news about GP9 / GPIX

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

REFSEQ mRNAs for 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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Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for GP9
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GP9
Clone
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OriGene clones in human, mouse for GP9 (see all 6)
OriGene ORF clones in mouse, rat for GP9
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: GP9 (NM_000174)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for GP9
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GP9
Sirion Biotech Customized lentivirus for stable overexpression of GP9 
                     Customized lentivirus expression plasmids for stable overexpression of GP9 
Primer
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OriGene qPCR primer pairs and template standards for GP9
OriGene qSTAR qPCR primer pairs in human, mouse for GP9
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GP9
  QIAGEN 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:

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

GeneLoc Exon Structure


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

GP9 expression in normal human tissues (normalized intensities)      GP9 embryonic expression: see
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 
 5/4 selected tissues (see all 4) fully expand
 
 Blood (Hematopoietic System)    fully expand to see all 4 entries
         Proerythroblasts Hematopoietic Bone Marrow
         Platelets and megakaryocytes like cells ( Generation of hematopoietic progenitor...
         cord blood   
 
 Umbilical Cord (Extraembryonic Tissues)
         cord blood   
 
 Pancreas (Endocrine System)
 
 Liver (Hepatobiliary System)

See GP9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GP9

SOURCE GeneReport for Unigene cluster: Hs.1144
    SABiosciences Custom PCR Arrays for GP9
Primer
Products:
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GP9
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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for GP9 gene from 4/10 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 75.62(n)1
72(a)1
  6 (39.13 cM)5
543681  NM_018762.11  NP_061232.11 
 877781365 
chicken
(Gallus gallus)
Aves GP91 glycoprotein IX (platelet) 50.33(n)
43.71(a)
  415971  XM_414314.2  XP_414314.1 
lizard
(Anolis carolinensis)
Reptilia GP96
--
--
37(a)
22(a)
1 ↔ 1
possible ortholog
2(159262420-159262947)
2(159251850-159258939)
zebrafish
(Danio rerio)
Actinopterygii GP96
glycoprotein IX (platelet)
20(a)
1 ↔ 1
23(4744165-4747089)


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)
About This Section
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) 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

10/115 SNPs in GP9 are shown (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
----------
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--------
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
rs1219180371,2
Cpathogenic1128763883(+) AGCCTC/TTGACC 2 S F mis10--------
rs764083121,2
--128760754(+) TAAAGC/TGGCTT 1 -- us2k10--------

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
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing GP9
DNA2.0 Custom Variant and Variant Library Synthesis for GP9

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

  • 13 diseases for GP9:    About MalaCards
    bernard-soulier syndrome type c    bernard-soulier syndrome    gray platelet syndrome    macrothrombocytopenia
    von willebrand's disease    velocardiofacial syndrome    glanzmann's thrombasthenia    thrombasthenia
    thrombocytopenia    thrombosis    liver disease    endotheliitis
    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

    PubMed articles for GP9 gene, integrated from 9 sources (see all 129) (see top 10):
    (articles sorted by number of sources associating them with GP9)
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    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. (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. (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. (2001)
    4. Characterization of the gene encoding human platelet glycoprotein IX. (PubMed id 8429020)1, 2, 9 Hickey M.J. and Roth G.J. (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. (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. (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. (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. (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. (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. (2004)
    11. Association of human platelet alloantigen 1 through 5 polymorphisms with ischemic stroke. (PubMed id 18057877)1, 4 Saidi S....Almawi W.Y. (2008)
    12. Human platelet antigens polymorphisms and susceptibility of thrombosis in hemodialysis patients. (PubMed id 18638089)1, 4 Gorgi Y....Ayed K. (2008)
    13. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    14. A Leu7-to-Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex. (PubMed id 12100158)1, 2 Lanza F.... Caen J.P. (2002)
    15. Corrected DNA sequence of the platelet glycoprotein IX gene. (PubMed id 9184424)1, 2 Hayashi T. and Suzuki K. (1997)
    16. Human platelet glycoprotein IX: an adhesive prototype of leucine-rich glycoproteins with flank-center-flank structures. (PubMed id 2771955)1, 2 Hickey M.J.... Roth G.J. (1989)
    17. Isolation and characterization of human platelet glycoprotein IX. (PubMed id 3056407)1, 2 Roth G.J.... Williams S.A. (1988)
    18. Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. (PubMed id 8049428)1, 9 Clemetson J.M....Clemetson K.J. (1994)
    19. A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype. (PubMed id 19404517)1, 9 Zieger B....Wuillemin W.A. (2009)
    20. Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. (PubMed id 14510954)1, 9 Sachs U.J....Santoso S. (2003)
    21. Alpha-granule membrane mirrors the platelet plasma membrane and contains the glycoproteins Ib, IX, and V. (PubMed id 8608228)1, 9 Berger G....Cramer E.M. (1996)
    22. First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S. (PubMed id 17804902)1, 9 Dagistan N. and Kunishima S. (2007)
    23. Genetic abnormalities of Bernard-Soulier syndrome. (PubMed id 12463594)1, 9 Kunishima S....Saito H. (2002)
    24. A CD9, alphaIIbbeta3, integrin-associated protein, and GPIb/V/IX complex on the surface of human platelets is influenced by alphaIIbbeta3 conformational states. (PubMed id 10429193)1, 9 Longhurst C.M....Jennings L.K. (1999)
    25. Protein interactions of the transcription factor Hoxa1 . (PubMed id 23088713)1 Lambert B....Rezsohazy R. (2012)
    26. Platelets with a W127X mutation in GPIX express suffic ient residual amounts of GPIba to support adhesion to von Willebrand factor and collagen. (PubMed id 23143686)1 Takata Y....Okamura T. (2012)
    27. Platelet glycoprotein Ib beta/IX mediates glycoprotei n Ib alpha localization to membrane lipid domain critical for von Willebrand fa ctor interaction at high shear. (PubMed id 21507943)1 Geng H....Peng Y. (2011)
    28. Quaternary organization of GPIb-IX complex and insigh ts into Bernard-Soulier syndrome revealed by the structures of GPIbI^ and a GPIb I^/GPIX chimera. (PubMed id 21908432)1 McEwan P.A....Emsley J. (2011)
    29. Delineating the roles of the GPIIb/IIIa and GP-Ib-IX- V platelet receptors in mediating platelet adhesion to adsorbed fibrinogen and albumin. (PubMed id 21529934)1 Sivaraman B. and Latour R.A. (2011)
    30. Molecular basis of Bernard-Soulier syndrome in 27 pat ients from India. (PubMed id 21699652)1 Sumitha E....Srivastava A. (2011)
    31. The platelet glycoprotein Ib-IX-V complex anchors lip id rafts to the membrane skeleton: implications for activation-dependent cytosk eletal translocation of signaling molecules. (PubMed id 19874464)1 Munday A.D....LA^pez J.A. (2010)
    32. Binding of platelet glycoprotein Ibbeta through the c onvex surface of leucine-rich repeats domain of glycoprotein IX. (PubMed id 19566547)1 Mo X....Li R. (2009)
    33. An empirical framework for binary interactome mapping . (PubMed id 19060904)1 Venkatesan K....Vidal M. (2009)
    34. Identification of five novel 14-3-3 isoforms interact ing with the GPIb-IX complex in platelets. (PubMed id 19558434)1 Mangin P.H....Lanza F. (2009)
    35. Intrinsic impaired proplatelet formation and microtub ule coil assembly of megakaryocytes in a mouse model of Bernard-Soulier syndrom e. (PubMed id 19377075)1 Strassel C....Lanza F. (2009)
    36. Specific heteromeric association of four transmembrane peptides derived from platelet glycoprotein Ib-IX complex. (PubMed id 18674540)1 Luo S.Z. and Li R. (2008)
    37. Redundant mechanism of platelet adhesion to laminin and collagen under flow: involvement of von Willebrand factor and glycoprotein Ib-IX-V. (PubMed id 18450753)1 Inoue O....Ozaki Y. (2008)
    38. The glycoprotein Ib-IX-V complex contributes to tissue factor-independent thrombin generation by recombinant factor VIIa on the activated platelet surface. (PubMed id 18612104)1 Weeterings C....Lisman T. (2008)
    39. Role of the transmembrane domain of glycoprotein IX in assembly of the glycoprotein Ib-IX complex. (PubMed id 17922811)1 Luo S.Z....Li R. (2007)
    40. Comparative gene expression profiling of in vitro differentiated megakaryocytes and erythroblasts identifies novel activatory and inhibitory platelet membrane proteins. (PubMed id 17192395)1 Macaulay I.C....Ouwehand W.H. (2007)
    41. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147)1 Wu C....Li S.S. (2007)
    42. Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran. (PubMed id 17763149)1 Afrasiabi A....Mannucci P.M. (2007)
    43. A novel mutation in the transmembrane region of glyco-protein IX associated with Bernard-Soulier syndrome. (PubMed id 15351858)1 Wang Z....Ruan C. (2004)
    44. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    45. Crystal structure of the GpIbalpha-thrombin complex essential for platelet aggregation. (PubMed id 12855811)1 Dumas J.J....Mosyak L. (2003)
    46. Drug-induced thrombocytopenia: localization of the binding site of GPIX-specific quinine-dependent antibodies. (PubMed id 12738668)7 Asvadi P....Chong B.H. (2003)
    47. The cysteine knot of platelet glycoprotein Ib beta (GPIb beta) is critical for the interaction of GPIb beta with GPIX. (PubMed id 12036872)1 Kenny D....Montgomery R.R. (2002)
    48. Lateral clustering of platelet GP Ib-IX complexes leads to up-regulation of the adhesive function of integrin alpha IIbbeta 3. (PubMed id 11812775)1 Kasirer-Friede A....Shattil S.J. (2002)
    49. Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. (PubMed id 12447957)1 Kunishima S....Saito H. (2002)
    50. Regulation of glycoprotein Ib-IX-von Willebrand factor interaction by cAMP-dependent protein kinase-mediated phosphorylation at Ser 166 of glycoprotein Ib(beta). (PubMed id 12361948)1 Bodnar R.J....Du X. (2002)
    51. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    52. Both the high affinity thrombin receptor (GPIb-IX-V) and GPIIb/IIIa are implicated in expression of thrombin-induced platelet procoagulant activity. (PubMed id 11686325)1 Dicker I.B....Greco N.J. (2001)
    53. Phosphoinositide 3-kinase forms a complex with platel et membrane glycoprotein Ib-IX-V complex and 14-3-3zeta. (PubMed id 10887121)1 Munday A.D....Mitchell C.A. (2000)
    54. Human kininogens regulate thrombin binding to platelets through the glycoprotein Ib-IX-V complex. (PubMed id 9269768)1 Bradford H.N....Colman R.W. (1997)
    55. Molecular characterization of mouse T-cell ecto-ADP-ribosyltransferase Rt6: cloning of a second functional gene and identification of the Rt6 gene products. (PubMed id 8811076)1 Hollmann C....Koch-Nolte F. (1996)
    56. Interaction of platelet glycoprotein V with glycoprotein Ib-IX regulates expression of the glycoproteins and binding of von Willebrand factor to glycoprotein Ib-IX in transfected cells. (PubMed id 7782333)1 Meyer S.C. and Fox J.E. (1995)
    57. Platelet alpha-granules. (PubMed id 8467233)1 Harrison P. and Cramer E.M. (1993)
    58. von Willebrand factor binding to platelet GpIb initiates signals for platelet activation. (PubMed id 1939645)1 Kroll M.H....Schafer A.I. (1991)
    59. Purification of botrocetin from Bothrops jararaca venom. Analysis of the botrocetin-mediated interaction between von Willebrand factor and the human platelet membrane glycoprotein Ib-IX complex. (PubMed id 2557900)1 Andrews R.K....Berndt M.C. (1989)
    60. Glycoprotein Ib and glycoprotein IX are fully complexed in the intact platelet membrane. (PubMed id 2436691)1 Du X....Berndt M.C. (1987)
    61. Two candidate genes for low platelet count identified in an Asian Indian kindred by genome-wide linkage analysis: glycoprotein IX and thrombopoietin. (PubMed id 16251900)9 Garner C....Thein S.L. (2006)
    62. The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome. (PubMed id 10216092)9 Kenny D....Montgomery R.R. (1999)
    63. A point mutation in glycoprotein IX coding sequence (Cys73 (TGT) to Tyr(TAT)) causes impaired surface expression of GPIb/IX/V complex in two families with Bernard-Soulier syndrome. (PubMed id 8972003)9 Noda M....Sano M. (1996)
    64. [Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome] (PubMed id 14575593)9 Zhao X.J....Ruan C.G. (2003)
    65. Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome. (PubMed id 11297032)9 Vanhoorelbeke K....Deckmyn H. (2001)
    66. The platelet surface expression of glycoprotein V is regulated by two independent mechanisms: proteolysis and a reversible cytoskeletal-mediated redistribution to the surface-connected canalicular system. (PubMed id 8608229)9 Michelson A.D....Nurden A.T. (1996)
    67. Targeting platelet GPIbalpha transgene expression to human megakaryocytes and forming a complete complex with endogenous GPIbbeta and GPIX. (PubMed id 15550031)9 Shi Q....Montgomery R.R. (2004)
    68. Inducible expression of the megakaryocyte-specific gene glycoprotein IX is mediated through an Ets binding site and involves upstream activation of extracellular signal-regulated kinase. (PubMed id 11504709)9 Eisbacher M....Chong B.H. (2001)
    69. Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome. (PubMed id 10887115)9 Moran N....Kenny D. (2000)
    70. Regulation of the megakaryocytic glycoprotein IX promoter by the oncogenic Ets transcription factor Fli-1. (PubMed id 10194443)9 Bastian L.S....Roth G. (1999)
    71. Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities. (PubMed id 8772211)9 Noda M....Kakishita E. (1995)
    72. A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor. (PubMed id 12693941)9 Strassel C....Nurden A.T. (2003)
    73. Human endothelial cells in culture and in vivo express on their surface all four components of the glycoprotein Ib/IX/V complex. (PubMed id 9326233)9 Wu G....Shapiro S.S. (1997)
    74. Molecular pathogenesis of Bernard-Soulier syndrome. (PubMed id 10805283)9 Hayashi T. and Suzuki K. (2000)
    75. Down-regulation and redistribution of GPV/GPVf2, a subunit of von Willebrand factor receptor (GPIb/IX/V complex), on the surface membrane of thrombin-stimulated human platelets. (PubMed id 10027712)9 Kawano H....Fujimura K. (1999)
    76. Characterization of the binding domains on platelet glycoproteins Ib-IX and IIb/IIIa complexes for the quinine/quinidine-dependent antibodies. (PubMed id 1709374)9 Chong B.H....Chesterman C.N. (1991)
    77. Proteomic approach to substrates related to MAPK pathway in 293T cells. (PubMed id 17046291)9 Zhang G. and Wang S. (2007)
    78. Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes. (PubMed id 12958615)9 Gonzalez-Manchon C....Parrilla R. (2003)
    79. Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. (PubMed id 10928480)9 Kunishima S....Saito H. (2000)
    80. Quinine-dependent antibodies bind a restricted set of epitopes on the glycoprotein Ib-IX complex: characterization of the epitopes. (PubMed id 9746776)9 Burgess J.K....Chong B.H. (1998)
    81. Flow cytometry as a tool in the diagnosis of Bernard-Soulier syndrome in Brazilian patients. (PubMed id 19459130)9 Beltrame M.P....Pasquini R. (2009)
    82. A novel homozygous 8-base pair deletion mutation in t he glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome. (PubMed id 19448529)9 Imai C....Uchiyama M. (2009)
    83. Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression. (PubMed id 18825380)9 Hadjkacem B....Gargouri A. (2009)
    84. Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). (PubMed id 17109744)9 Lanza F. (2006)
    85. A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier Syndrome (BSS). (PubMed id 16268478)9 Liang H.P....Ward C.M. (2005)
    86. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. (PubMed id 15609295)9 Drouin J....Laneuville O. (2005)
    87. Filamin A binding stabilizes nascent glycoprotein Ibalpha trafficking and thereby enhances its surface expression. (PubMed id 15623510)9 Feng S....Kroll M.H. (2005)
    88. Different levels of platelet activation in preeclamptic, normotensive pregnant, and nonpregnant women. (PubMed id 15118653)9 Holthe M.R....Lyberg T. (2004)
    89. Recurrent mutation Trp126 --> stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. (PubMed id 12850844)9 Toyohama T....Takasu N. (2003)
    90. [Autoimmune thrombocytopenia in chronic liver disease] (PubMed id 11899844)9 Panasiuk A. and Zak J. (2001)
    91. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. (PubMed id 11418466)9 Freson K.... Van Geet C. (2001)
    92. Characterization of cDNA encoding full-length mouse platelet glycoprotein IX. (PubMed id 9690810)9 Kitaguchi T....Ikeda Y. (1998)
    93. Elevated plasma glycocalicin levels and decreased ris tocetin-induced platelet agglutination in hemodialysis patients. (PubMed id 9669434)9 Himmelfarb J....Ault K. (1998)
    94. An antibody from a patient with ranitidine-induced thrombocytopenia recognizes a site on glycoprotein IX that is a favored target for drug-induced antibodies. (PubMed id 9746775)9 Gentilini G....Aster R.H. (1998)
    95. Vulnerable mutation Trp126-->stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. (PubMed id 9579882)9 Iwanaga M....Naoe T. (1998)
    96. Effect of a new monoclonal anti-glycoprotein IX antib ody, KMP-9, on high shear-induced platelet aggregation. (PubMed id 9268193)9 Miyake T....Fukuhara S. (1997)
    97. Recurrent mutation Asn45-->Ser of glycoprotein IX in Bernard-Soulier syndrome. (PubMed id 8856096)9 Donner M....Holmberg L. (1996)
    98. The glycoprotein Ib-IX complex-specific monoclonal antibody SZ1 binds to a conformation-sensitive epitope on glycoprotein IX: implications for the target antigen of quinine/quinidine-dependent autoantibodies. (PubMed id 7532036)9 Lopez J.A....Chambers M. (1995)
    99. Platelet GPIb-V-IX complex. Structure, function, physiology, and pathology. (PubMed id 7660135)9 Clemetson K.J. and Clemetson J.M. (1995)
    100. A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I). (PubMed id 7873390)9 de la Salle C.... Cazenave J.-P. (1995)
    101. Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22. (PubMed id 8200976)9 Kelly M.D.... Konkle B.A. (1994)
    102. Molecular abnormalities in Glanzmann's thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrand's disease. (PubMed id 9371310)9 Clemetson K.J. and Clemetson J.M. (1994)
    103. Substantial expression of glycoproteins IX and V on the platelet surface from a patient with Bernard-Soulier syndrome. (PubMed id 7947243)9 Arai M....Tanoue K. (1994)
    104. Glycoproteins V and Ib-IX form a noncovalent complex in the platelet membrane. (PubMed id 1730602)9 Modderman P.W....von dem Borne A.E. (1992)
    105. Modularity of the oncoprotein-like properties of platelet glycoprotein Ibalpha. (PubMed id 19017648)9 Li Y....Prochownik E.V. (2009)
    106. Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. (PubMed id 18064328)9 Liang H.P....Ward C.M. (2007)
    107. The oncogenic TLS-ERG fusion protein exerts different effects in hematopoietic cells and fibroblasts. (PubMed id 15988032)9 Zou J....Yang L. (2005)
    108. Platelet function in sepsis. (PubMed id 15613012)9 Yaguchi A....Pradier O. (2004)
    109. The potential effect of short-course high-dose steroid on the maturation and apoptosis of leukemic cells in a child with acute megakaryoblastic leukemia. (PubMed id 12854906)9 Hicsonmez G....Gurgey A. (2003)
    110. A palmitylated peptide derived from the glycoprotein Ib beta cytoplasmic tail inhibits platelet activation. (PubMed id 14675101)9 Martin K....Kenny D. (2003)
    111. Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene. (PubMed id 12945881)9 Watanabe R....Ikeda Y. (2003)
    112. A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies. (PubMed id 12529755)9 Hillmann A....Kenny D. (2002)
    113. A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form. (PubMed id 11816714)9 Kurokawa Y....Koike K. (2001)
    114. Single amino acid substitution in human platelet glycoprotein Ibbeta is responsible for the formation of the platelet-specific alloantigen Iy(a). (PubMed id 10688847)9 Sachs U.J....Santoso S. (2000)
    115. Ultrastructural characterization of maturation, plate let release, and senescence of human cultured megakaryocytes. (PubMed id 10603452)9 Falcieri E....Zauli G. (2000)
    116. Regulation of megakaryocytopoiesis in an in vitro str oma model: preferential adhesion of megakaryocytic progenitors and subsequent i nhibition of maturation. (PubMed id 10781898)9 Zweegman S....DrAoger A.M. (2000)
    117. Glycoprotein V-deficient platelets have undiminished thrombin responsiveness and Do not exhibit a Bernard-Soulier phenotype. (PubMed id 10590056)9 Kahn M.L....Coughlin S.R. (1999)
    118. Glycoprotein (GP) Ib-IX-transfected cells roll on a von Willebrand factor matrix under flow. Importance of the GPib/actin-binding protein (ABP-280) interaction in maintaining adhesion under high shear. (PubMed id 10037692)9 Cranmer S.L....Jackson S.P. (1999)
    119. The glycoprotein Ib/IX complex regulates cell proliferation. (PubMed id 10361123)9 Feng S....Kroll M.H. (1999)
    120. Inhibition of erythroid differentiation and induction of megakaryocytic differentiation by thrombopoietin are regulated by two different mechanisms in TPO-dependent UT-7/c-mpl and TF-1/c-mpl cell lines. (PubMed id 9737683)9 Goncalves F....Dumenil D. (1998)
    121. Survival of fresh human platelets in a rabbit model a s traced by flow cytometry. (PubMed id 9661688)9 Rothwell S.W....Krishnamurti C. (1998)
    122. Genetic polymorphism in human platelet glycoprotein GP Ib/IX/V complex is enriched in GP V (CD42d). (PubMed id 9802603)9 Koskela S....Partanen J. (1998)
    123. Fatty acid acylation of platelet proteins. (PubMed id 9250606)9 Van Cott E.M....Laposata M. (1997)
    124. A dinucleotide deletion results in defective membrane anchoring and circulating soluble glycoprotein Ib alpha in a novel form of Bernard-Soulier syndrome. (PubMed id 9326229)9 Kenny D....Montgomery R.R. (1997)
    125. Characterization of the gene encoding mouse platelet glycoprotien Ib beta. (PubMed id 9259114)9 Kitaguchi T....Ikeda Y. (1997)
    126. Thrombin interaction with platelet membrane glycoprotein Ib. (PubMed id 8807712)9 Jandrot-Perrus M....Guillin M.C. (1996)

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    Entrez Gene: 2815 HGNC: 4444 AceView: GP9 Ensembl:ENSG00000169704 euGenes: HUgn2815
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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