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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

(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

(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)

(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

(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

REFSEQ proteins: NP_000165.1

ENSEMBL proteins:

ENSP00000303942

Reactome Protein details: P14770
Human Recombinant Protein Products for GP9:

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	Uscn Proteins for GP9

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	2771955

GP9 for ontologies About GeneDecksing

GP9 Antibody Products:

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Assay Products for GP9:

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	Uscn ELISAs and CLIAs for GP9

(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

(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 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GP9
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GP9 (see all 3) 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
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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for GP9

(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-pathway

contained gene-specific pathways

Formation of Fibrin Clot (Clotting Cascade)

	Formation of Fibrin Clot (Clotting Cascade)	1.00			Blood Coagulation Signaling Pathways	0.51
	Intrinsic Pathway	0.59

GP1b signaling involves c-Src

	GP1b signaling involves c-Src	1.00			Platelet Adhesion to exposed collagen	0.36
	GP1b-IX-V activation signalling	0.60

Platelet activation, signaling and aggregation

Platelet activation, signaling and aggregation

1.00

Hemostasis

0.43

Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

1.00

Hematopoietic cell lineage

Hematopoietic cell lineage

1.00

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 Central^TM 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 (P14770^{2, 3} ENSP00000303942⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GP1BB	P13224²^,³, ENSP00000383382⁴	MINT-6742751 MINT-6742907 I2D: score=1 STRING: ENSP00000383382
GP1BA	P07359², ENSP00000329380⁴	MINT-6742751 MINT-6742907 STRING: ENSP00000329380
APPBP2	Q92624³, ENSP00000083182⁴	I2D: score=2 STRING: ENSP00000083182
CRK	P46108³, ENSP00000300574⁴	I2D: score=2 STRING: ENSP00000300574
PLSCR1	O15162³	I2D: score=1

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--
GO:0007596	blood coagulation	TAS	--
GO:0007597	blood coagulation, intrinsic pathway	TAS	--
GO:0030168	platelet activation	TAS	--

GP9 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Quinine	6'-Methoxycinchonidine (see all 6)	130-95-0	target	other	12738668

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

(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)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GP9
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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
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		Sirion Biotech Custom design and validation of potent shRNA sequences against GP9

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GP9 (see all 3) 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)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GP9
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		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

(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

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

Cell

Category (developmental path)

Pancreas

Dorsal Pancreatic Bud

Immature Beta Progenitor Cells

Pancreas

Ventral Pancreatic Bud

Immature Beta Progenitor Cells

Pancreas

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

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

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In Situ
Assay Products:

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(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	Gp9^{1 , 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 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, 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

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28933377^1,2	C	pathogenic	128780749(+)	`CCACCT/CTCTGC`	2	/P /L	mis¹ ese³		1		NA	2
rs5030764^1,2	C,F	pathogenic	128780764(+)	`CAACAA/GCAGCC`	2	N S	mis¹		3		NA EU	5613
rs76408312^1,2		--	128777665(+)	`TAAAGC/TGGCTT`	1	--	us2k¹		0	--	--	--	--
rs192327251^1,2		--	128777666(+)	`AAAGCA/GGCTTT`	1	--	us2k¹		0	--	--	--	--
rs140569235^1,2		--	128777688(+)	`GCTCTC/TTGACT`	1	--	us2k¹		0	--	--	--	--
rs182461760^1,2		--	128777760(+)	`CCTGCA/GTCACT`	1	--	us2k¹		0	--	--	--	--
rs6765651^1,2	C,F,A,H	--	128777877(+)	`TATCCC/TGTGCC`	1	--	us2k¹		27		NS EA NA WA CSA	2496
rs145643668^1,2		--	128777894(+)	`GCAGAA/TGGGTA`	1	--	us2k¹		0	--	--	--	--
rs138175196^1,2		--	128778027(+)	`CATTTA/GTTTGT`	1	--	us2k¹		0	--	--	--	--
rs187935504^1,2		--	128778070(+)	`ATCTAC/TGTTGA`	1	--	us2k¹		0	--	--	--	--

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

(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

(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)
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PubMed articles for GP9 gene, integrated from 9 sources (see all 126):
(articles sorted by number of sources associating them with GP9)

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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)
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)
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)
Characterization of the gene encoding human platelet glycoprotein IX. (PubMed id 8429020)^{1, 2, 9} Hickey M.J. and Roth G.J. (1993)
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)
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome. (PubMed id 10583255)^{1, 2, 9} Kunishima S....Saito H. (1999)
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)
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)
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)
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. (PubMed id 15477207)^{1, 4, 9} Noris P....Balduini C.L. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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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)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GP9	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://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.)

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Patent Information for GP9 gene:
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