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

GP9 Gene

protein-coding   GIFtS: 66
GCID: GC03P128779

glycoprotein IX (platelet)
 Explore 15 diseases affiliated with
GP9 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GP9    

Aliases
for GP9 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Glycoprotein IX (Platelet)1 2     GP-IX2 3
GPIX1 2 3     Platelet Glycoprotein IX2
CD42a1 2     CD42a Antigen3
Glycoprotein 92 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


Summaries
for GP9 gene

(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:
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)

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)


Genomic Views
for GP9 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GP9 gene promoter:
         AML1a   HTF   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GP9 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

Proteins
for GP9 gene

(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: 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

GP9 Protein expression data from MOPED and PaxDb:    About this image 
GP9 Protein Expression

REFSEQ proteins: NP_000165.1  
ENSEMBL proteins: 
 ENSP00000303942  
Reactome Protein details: P14770
Human Recombinant Protein Products for GP9: 
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Novus Biologicals GP9 Proteins
Novus Biologicals GP9 Lysates
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins
Uscn 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: 
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ThermoFisher Antibodies for GP9

Assay Products for GP9: 
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Uscn ELISAs and CLIAs for GP9

Protein Domains /
Families
for GP9 gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
GP9 for domains           About GeneDecksing

2 InterPro domains/families:
 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 families:
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


Function
for GP9 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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 - Customizable classic, inducible, and humanized mouse model solutions for GP9 

miRNA
Products:    		Browse 3'-UTR reporter clones for miRNA target validation
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GP9
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Inhib. RNA
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OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GP9 (see all 7)
OriGene shRNA RFP: GP9
OriGene siRNA: GP9
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GP9
Sirion Biotech Custom design and validation of potent shRNA sequences against GP9 

Gene Editing
Products:		DNA2.0 Custom Protein Engineering Service for GP9
Sirion Biotech Customized adenovirus for overexpression of GP9 
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Clone
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OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GP9 (see all 3)
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OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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 

Cell Line
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Sirion Biotech Customized inducible overexpressing cell line services for GP9

In Situ Assay
Products:   
 		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for GP9


Pathways & Interactions
for GP9 gene

(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 7) About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Formation of Fibrin Clot (Clotting Cascade)
Formation of Fibrin Clot (Clotting Cascade)1.00
Blood Coagulation Signaling Pathways0.51
Intrinsic Pathway0.59
2GP1b signaling involves c-Src
GP1b signaling involves c-Src1.00
Platelet Adhesion to exposed collagen0.36
GP1b-IX-V activation signalling0.60
3Platelet activation, signaling and aggregation
Platelet activation, signaling and aggregation1.00
Hemostasis0.43
4Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics1.00
5Hematopoietic cell lineage
Hematopoietic cell lineage1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

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


5/8        Reactome Pathways for GP9 (see all 8)
    GP1b signaling involves c-Src
Hemostasis
Platelet Adhesion to exposed collagen
Formation of Fibrin Clot (Clotting Cascade)
GP1b-IX-V activation signalling

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



Drugs & Compounds
for GP9 gene

(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

GP9 for compounds           About GeneDecksing

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

Browse Tocris compounds for GP9

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

9 Novoseek 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 

Transcripts
for GP9 gene

(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, Sirion Biotech, 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 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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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GP9
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Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:     		Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GP9 (see all 7)
OriGene shRNA RFP: GP9
OriGene siRNA: GP9
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GP9
Sirion Biotech Custom design and validation of potent shRNA sequences against GP9 
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, 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)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GP9 
Primer
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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 cDNA sequence: 

BC030229.1 M25827.1 X52997.1 

1 DOTS entry:

DT.108278 

15 AceView cDNA sequences:

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

GeneLoc Exon Structure


Expression
for GP9 gene

(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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCCGCTGGG
GP9 Expression
About this image

GP9 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells 
Tissue Anatomical Compartment CellCategory (developmental path)
PancreasDorsal Pancreatic BudImmature Beta Progenitor CellsPancreas
PancreasVentral Pancreatic BudImmature Beta Progenitor CellsPancreas
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 1 LifeMap Cell 
NameCategory
Platelets and megakaryocytes like cells (Generation of hemato...)

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
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GP9
In Situ
Assay Products: 
 		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for GP9

Orthologs
for GP9 gene

(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
--
 --
 39(a)
26(a)
 1 ↔ 1
possible ortholog
 2(159262420-159262947)
2(159253208-159254615)
zebrafish
(Danio rerio)		 Actinopterygii si:ch1073-66c17.46
 si:ch1073-66c17.4
 20(a)
 1 ↔ 1
 23(4744165-4747089)


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

Paralogs
for GP9 gene

(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



Genomic Variants
for GP9 gene

(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

74/78 NCBI SNPs in GP9 are shown (see all 78)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 3 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs289333771,2
Cpathogenic128780749(+) CCACCT/CTCTGC 2 /P /L mis1 ese31Minor allele frequency- C:0.00NA 2
rs50307641,2
C,Fpathogenic128780764(+) CAACAA/GCAGCC 2 N S mis13Minor allele frequency- G:0.00NA EU 5613
rs764083121,2
--128777665(+) TAAAGC/TGGCTT 1 -- us2k10--------
rs1923272511,2
--128777666(+) AAAGCA/GGCTTT 1 -- us2k10--------
rs1405692351,2
--128777688(+) GCTCTC/TTGACT 1 -- us2k10--------
rs1824617601,2
--128777760(+) CCTGCA/GTCACT 1 -- us2k10--------
rs67656511,2
C,F,A,H--128777877(+) TATCCC/TGTGCC 1 -- us2k127Minor allele frequency- T:0.24NS EA NA WA CSA 2496
rs1456436681,2
--128777894(+) GCAGAA/TGGGTA 1 -- us2k10--------
rs1381751961,2
--128778027(+) CATTTA/GTTTGT 1 -- us2k10--------
rs1879355041,2
--128778070(+) ATCTAC/TGTTGA 1 -- us2k10--------
rs1491378891,2
--128778078(+) TGATCG/TAGTTT 1 -- us2k10--------
rs49279261,2
C,F,A,H--128778267(+) GGAGGC/TGGAAC 1 -- us2k120Minor allele frequency- T:0.05NA EA NS WA CSA 2938
rs758961851,2
--128778500(+) CTCTCA/CGGGCC 1 -- us2k10--------
rs1916187591,2
--128778597(+) ACTCAA/CCCTGC 1 -- us2k10--------
rs1840979921,2
--128778603(+) CCTGCC/TTGGCC 1 -- us2k10--------
rs1483723671,2
--128778607(+) CTTGGC/TCATGC 1 -- us2k10--------
rs1475019561,2
--128778719(+) TCAACA/GAAGTG 1 -- us2k10--------
rs1873630951,2
--128778824(+) CGGAGA/TCTCGC 1 -- us2k10--------
rs1380129141,2
--128778881(+) CACCTC/GTGCCT 1 -- us2k10--------
rs1164613701,2
C,F--128779028(+) AACCAT/CAGGCC 1 -- us2k11Minor allele frequency- C:0.02WA 118
rs1434768381,2
--128779142(+) CACCAC/TGGCAC 1 -- us2k10--------
rs68078761,2
C,F,H--128779715(+) ATTACC/TCAGCA 1 -- int18Minor allele frequency- T:0.00NS EA NA 994
rs1394870871,2
--128779758(+) CTGTCC/TCTTTA 1 -- int10--------
rs1496629661,2
--128779795(+) CCTCTA/GAGACA 1 -- int10--------
rs1922716951,2
--128779808(+) ATCTCC/TTTGGC 1 -- int10--------
rs1853282831,2
--128779832(+) GTGAGC/TTGATT 1 -- int10--------
rs67839331,2
C--128779940(+) CCgagA/Gcccga 1 -- int11Minor allele frequency- G:0.00NA 2018
rs1155629201,2
F--128780116(+) TTCTGC/TATCTG 1 -- int11Minor allele frequency- T:0.03NA 120
rs1902094411,2
--128780153(+) GGTGGA/GGGGTG 1 -- int10--------
rs1484750691,2
--128780216(+) GTGGTC/TCTGGG 1 -- int10--------
rs1824645501,2
--128780334(+) ATCCAC/GAGCCG 1 -- int10--------
rs1441002721,2
--128780351(+) CCGCCC/TGGCCT 1 -- ut510--------
rs1464747081,2
--128780388(+) AGGCCC/TGGGCT 1 -- ut510--------
rs1841633571,2
--128780461(+) AAGGGA/CGGTGA 1 -- ut510--------
rs1158548181,2
F--128780492(+) GGCTCC/TGCTAC 1 -- int11Minor allele frequency- T:0.02WA 118
rs1884074871,2
--128780513(+) CTTGCC/TGTCCC 1 -- int10--------
rs2017455051,2
--128780542(+) GCCAGA/GCCCTC 1 -- int10--------
rs2003760431,2
--128780600(+) GGAGCC/TCTGTT 2 A syn10--------
rs289333781,2
C--128780652(+) GCCCAT/CGTACC 2 /R /C mis1 ese31Minor allele frequency- C:0.00NA 2
rs1476759041,2
C,F--128780662(+) CTGCCG/ACGCCC 2 /H /R mis11Minor allele frequency- A:0.00NA 4132
rs2017554371,2
--128780705(+) GGCCAC/TGGACT 2 H syn10--------
rs60691,2
C,F--128780714(+) CTCACG/AGCCCT 2 /T syn1 ese35Minor allele frequency- A:0.04MN WA EA NA EU 5109
rs1454720501,2
F--128780785(+) GCCCCC/TGGGAG 2 P L mis11Minor allele frequency- T:0.00NA 4526
rs2006405941,2
C--128780818(+) GCAGAC/TCCTCG 2 T I mis10--------
rs1379943461,2
C,F--128780823(+) CCCTCG/AATGTG 2 /N /D mis12Minor allele frequency- A:0.00NA EU 5859
rs1426920111,2
C--128780831(+) GTGACG/ACAGAA 2 /T syn11Minor allele frequency- A:0.00NA 4540
rs1460259581,2
C,F--128780872(+) TCTGCG/ACCTCT 2 /H /R mis11Minor allele frequency- A:0.00NA 4444
rs2013414491,2
--128780911(+) GCTGCA/GGGTCC 2 Q R mis10--------
rs2004899271,2
C--128780916(+) AGGTCC/TGCTGT 2 R C mis10--------
rs1443455171,2
C--128781027(+) GGGTCC/TTGTGG 2 L syn10--------
rs1168210501,2
C--128781036(+) GGGACA/GTGGCG 2 M V mis10--------
rs37961301,2
C,F--128781048(+) TGGTCG/ACCGTG 2 /T /A mis11Minor allele frequency- A:0.17EA 120
rs1811755421,2
C--128781070(+) CCTGGA/CTCTTC 2 D A mis10--------
rs1150051141,2
C,F--128781123(+) CCAGGC/TCCCCA 1 -- ut311Minor allele frequency- T:0.16WA 118
rs1997246071,2
C--128781271(-) GAGGGA/GAAAAA 1 -- ds50010--------
rs1510577121,2
--128781314(+) TGGCTA/CGATTT 1 -- ds50010--------
rs1858833281,2
--128781512(+) CAGCTC/TTGCAC 1 -- ds50010--------
rs20621261,2
C,F,H--128781633(-) TCTGTC/TGTGGG 1 -- ds500110Minor allele frequency- T:0.01MN NS EA NA 1272
rs1501839951,2
--128781664(+) TCCATC/TACGGC 1 -- ds50010--------
rs1458769141,2
--128781708(+) AGGGCC/GCACCT 1 -- ds50010--------
rs582187281,2
--128781732(+) CCTCCA/GTCTTC 1 -- ds50010--------
rs1411517931,2
----128780900(+) CCCGAG/AGCCCT 2 /E syn11Minor allele frequency- A:0.00NA 3840
rs355420241,2
----128780358(+) GCCTTT/CTACGG 1 -- ut511Minor allele frequency- C:0.00NA 2
rs2022291011,2
----128780950(+) TGGCCC/TGCTGG 2 P L mis10--------
rs1486225721,2
----128780885(+) CTGGAG/AGACCG 2 /E syn11Minor allele frequency- A:0.00NA 4396
rs2021205711,2
----128780247(+) ATCTG-/CTC   
  CTCTCATCCCC 		1 -- int10--------
rs617325061,2
----128780957(+) CTGGGC/TCGGCT 2 G syn11Minor allele frequency- T:0.01NS 72
rs617341821,2
----128780956(+) GCTGGG/ACCGGC 2 /D /G mis11Minor allele frequency- A:0.01NS 72
rs130946591,2
----128781127(+) GCCCCC/AAGAAC 1 -- ut31 ese31Minor allele frequency- A:0.00NA 2094
rs1409293001,2
----128780684(+) GGGCTG/ATGGGT 2 /L syn11Minor allele frequency- A:0.00NA 4014
rs114043621,2
----128781259(+) GATTT-/TTTTTT 1 -- ds50010--------
rs1121630541,2
----128780526(+) AGGATC/TGGTCC 1 -- int11Minor allele frequency- T:0.50CSA 2
rs347303561,2
----128781596(+) GGCCC-/CTGGAG 1 -- ds50010--------
rs1219180361,2
--pathogenic128780692(+) GGTGGA/GCTGCA 2 D G mis10--------

HapMap Linkage Disequilibrium report for GP9 (128779610 - 128781253 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for GP9: --
Human Gene Mutation Database (HGMD): GP9

Locus Specific Mutation Databases (LSDB): GP9

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GP9
DNA2.0 Custom Variant and Variant Library Synthesis for GP9

Disorders / Diseases
for GP9 gene

(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
GP9 for disorders           About GeneDecksing

OMIM gene information: 173515   
OMIM disorders: 231200  
UniProtKB/Swiss-Prot: GPIX_HUMAN, P14770
  • Defects in GP9 are a cause of Bernard-Soulier syndrome (BSS) [MIM:231200]; also known as giant platelet
    • disease (GPD). BSS patients have unusually large platelets and have a clinical bleeding tendency

    15 diseases for GP9:    About MalaCards
    bernard-soulier syndrome    bernard-soulier syndrome type c    gray platelet syndrome    glanzmann's thrombasthenia
    von willebrand's disease    megakaryoblastic leukemia    thrombasthenia    acute megakaryoblastic leukemia
    macrothrombocytopenia    velocardiofacial syndrome    thrombocytopenia    liver disease
    thrombosis    leukemia    sepsis

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

    6 Novoseek 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

    Publications
    for GP9 gene

    (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 126):
    (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. (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)

    External Searches for GP9 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GP9 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2815 HGNC: 4444 AceView: GP9 Ensembl:ENSG00000169704 euGenes: HUgn2815
    ECgene: GP9 Kegg: 2815 H-InvDB: GP9

    Other Databases showing GP9 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GP9 gene

    (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 GP9 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GP9

    Intellectual Property
    for GP9 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

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