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GP6 Gene

protein-coding GIFtS: 61
GCID: GC19M055525

Glycoprotein VI (Platelet)

See GP6-related diseases
at

MalaCards

(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 VI (Platelet)¹ ²		GPIV² ⁵
Glycoprotein 6² ³		Platelet Collagen Receptor²
GPVI² ³		Platelet Glycoprotein VI²
BDPLT11² ⁵

External Ids:	HGNC: 14388¹	Entrez Gene: 51206²	Ensembl: ENSG00000088053⁷	OMIM: 605546⁵	UniProtKB: Q9HCN6³

Export aliases for GP6 gene to outside databases

Previous GC identifers: GC19M056387 GC19M055949 GC19M060201 GC19M060216 GC19M051846

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

Entrez Gene summary for GP6 Gene:

This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a

receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation.

The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation

signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11

(BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

(provided by RefSeq, Dec 2011)

GeneCards Summary for GP6 Gene:

GP6 (glycoprotein VI (platelet)) is a protein-coding gene. Diseases associated with GP6 include cervix uteri carcinoma in situ, and glycoprotein 1a deficiency. GO annotations related to this gene include collagen binding and receptor activity. An important paralog of this gene is LILRB4.

UniProtKB/Swiss-Prot: GPVI_HUMAN, Q9HCN6

Function: Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in

platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may

contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma-chain, the Src

kinases (likely Fyn/Lyn), the adapter protein LAT and leads to the activation of phospholipase C gamma2

Gene Wiki entry for GP6 (GPVI) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000019.9 NC_018930.2 NT_011109.17 NT_187693.1

Regulatory elements:

Regulatory transcription factor binding sites in the GP6 gene promoter:
HOXA9B HOXA9 Sp1 NRSF form 1 AP-4 NRSF form 2 GATA-1 Meis-1a Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GP6 promoter sequence

Search Chromatin IP Primers for GP6

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GP6

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

Entrez Gene cytogenetic band: 19q13.4 Ensembl cytogenetic band: 19q13.42 HGNC cytogenetic band: 19q13.4

GP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GP6 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M055525: view genomic region (about GC identifiers)

Start:	55,525,073 bp from pter	End:	55,549,632 bp from pter
Size:	24,560 bases	Orientation:	minus strand

Selected alternative locations (see all 8):

Chr19-,NW_003571056 993,690-1,018,249	Chr19-,NW_003571059 932,069-956,628	Chr19-,NW_003571057 1,021,227-1,045,786
Chr19-,NW_003571058 995,776-1,020,335	Chr19-,NW_003571054 917,103-941,662	Chr19-,NW_003571055 658,906-683,465

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: GPVI_HUMAN, Q9HCN6 (See protein sequence)

Recommended Name: Platelet glycoprotein VI precursor

Size: 339 amino acids; 36866 Da

Subunit: Associated with Fc receptor gamma chain. The GPVI-FcRgamma complex is associated with the Src kinase

family Fyn and Lyn

1 PDB 3D structure from and Proteopedia for GP6:

2GI7 (3D)

Secondary accessions: Q9HCN7 Q9UIF2

Alternative splicing: 3 isoforms: Q9HCN6-1 Q9HCN6-2 Q9HCN6-3 (Has no transmembrane domain. Does not interact with Fc receptor gamma chain. Does not bind to collagen-like peptides. Ref.1 (BAB12247) sequence is in conflict in positions: 314:P->A, 323:K->T, 573:R->G, 606:F->L)

Explore the universe of human proteins at neXtProt for GP6: NX_Q9HCN6

Explore proteomics data for GP6 at MOPED

Post-translational modifications:

N-linked glycosylation at Asn-92 is not required for the cell surface expression, but contributes to maximal

adhesion to type I collagen, collagen-related peptide (CRP), and, to a lesser extent, to the snake venom C-type

lectin convulxin (CVX)¹

Glycosylation² at Asn92

Modification sites at PhosphoSitePlus

See GP6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts):

NP_001077368.2 NP_001242946.2 NP_057447.5

ENSEMBL proteins:

ENSP00000394922 ENSP00000308782 ENSP00000334552 ENSP00000464922

Reactome Protein details: Q9HCN6

GP6 Human Recombinant Protein Products:

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	antibodies-online peptides for GP6

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	antibodies-online kits for GP6 (21 products)

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

HGNC Gene Families:

IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

2 InterPro protein domains:

IPR013783 Ig-like_fold

IPR003599 Ig_sub

Graphical View of Domain Structure for InterPro Entry Q9HCN6

ProtoNet protein and cluster: Q9HCN6

1 Blocks protein domain: IPB003599 Immunoglobulin subtype

UniProtKB/Swiss-Prot: GPVI_HUMAN, Q9HCN6

Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains

Find genes that share domains with GP6 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: GPVI_HUMAN, Q9HCN6

Function: Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in

platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may

contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma-chain, the Src

kinases (likely Fyn/Lyn), the adapter protein LAT and leads to the activation of phospholipase C gamma2

Gene Ontology (GO): 4 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	TAS	11027634
GO:0004888	transmembrane signaling receptor activity	TAS	10822077
GO:0005515	protein binding	IPI	1715582
GO:0005518	collagen binding	TAS	11027634

Find genes that share ontologies with GP6 About GenesLikeMe

Phenotypes:
2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Gp6):

hematopoietic system

homeostasis/metabolism

Find genes that share phenotypes with GP6 About GenesLikeMe

Animal Models:
MGI mouse knock-out Gp6^tm1Ware for GP6

genOway: Develop your customized and physiologically relevant rodent model for GP6

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GP6

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

GPVI_HUMAN, Q9HCN6: Isoform 1: Cell membrane; Single-pass membrane protein

GPVI_HUMAN, Q9HCN6: Isoform 2: Cell membrane; Single-pass membrane protein

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
plasma membrane	5
extracellular	3
cytosol	1
lysosome	1
mitochondrion	1

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral component of plasma membrane	IEA	--

Find genes that share ontologies with GP6 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for GP6 About (see all 7)

See pathways by source

Powered
by

SuperPath

Contained pathways About

Hemostasis

Platelet activation, signaling and aggregation

0.43

Hemostasis

0.43

Formation of Fibrin Clot (Clotting Cascade)

Blood Coagulation Signaling Pathways

0.51

Focal adhesion

ECM-receptor interaction

0.31

CD28 co-stimulation

GPVI-mediated activation cascade

0.31

Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

Find genes that share SuperPaths with GP6 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 R&D Systems Pathway for GP6

Blood Coagulation Signaling Pathways

3 Reactome Pathways for GP6

	Platelet Adhesion to exposed collagen
	GPVI-mediated activation cascade
	Cell surface interactions at the vascular wall

1 PharmGKB Pathway for GP6

Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for GP6):

ECM-receptor interaction

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for GP6
Interactions:

GeneGlobe Interaction Network for GP6

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

Selected Interacting proteins for GP6 (Q9HCN6^{1, 2, 3} ENSP00000308782⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM2	P62158²^,³	MINT-17793 MINT-17795 I2D: score=1
CALM3	P62158²^,³	MINT-17793 MINT-17795 I2D: score=1
LYN	P07948¹^,³	EBI-515278,EBI-79452 I2D: score=3
CALM1	P62158²^,³, ENSP00000349467⁴	MINT-17793 MINT-17795 I2D: score=1 STRING: ENSP00000349467
FYN	P06241³, ENSP00000357656⁴	I2D: score=3 STRING: ENSP00000357656

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007167	enzyme linked receptor protein signaling pathway	TAS	9153205
GO:0007596	blood coagulation	TAS	--
GO:0030168	platelet activation	TAS	--
GO:0050900	leukocyte migration	TAS	--

Find genes that share ontologies with GP6 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for GP6 (GPVI)

Selected Novoseek inferred chemical compound relationships for GP6 gene (see all 30) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
convulxin	97.6	101	12881531 (5), 9341142 (4), 16014566 (3), 10666318 (3) (see all 43)
lotrafiban	80.5	1	15370101 (1)
jararhagin	74.1	12	10666318 (3), 10727949 (1), 15320694 (1)
echicetin	71.9	2	15320694 (1)
adp	71.7	26	15939050 (3), 15231520 (2), 17096705 (2), 12842985 (1) (see all 17)
tyrosine	64	56	14656219 (4), 9295288 (2), 10666318 (2), 20040043 (2) (see all 30)
thromboxane a2	63.9	7	9468482 (2), 17362227 (1), 11964287 (1), 10066433 (1) (see all 5)
fibrinogen	62	12	15934989 (1), 11722284 (1), 15231520 (1), 11964287 (1) (see all 9)
go 6976	48	1	15583006 (1)
ristocetin	44.5	1	17539777 (1)

1 PharmGKB related drug/compound annotation for GP6 gene About this table

Drug/compound	PharmGKB Annotation
aspirin	CA

Find genes that share compounds with GP6 About GenesLikeMe

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for GP6 gene (3 alternative transcripts):

NM_001083899.2 NM_001256017.2 NM_016363.5

Unigene Cluster for GP6:

Glycoprotein VI (platelet)

Hs.661752 [show with all ESTs]

Unigene Representative Sequence: NM_001083899

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000417454(uc002qik.3) ENST00000310373(uc002qil.3) ENST00000333884(uc010esq.3)

ENST00000465648 ENST00000468239

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Additional mRNA sequence:

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

2 DOTS entries:

DT.91715542 DT.91715543

Selected AceView cDNA sequences (see all 29):

BF353862 BF353861 BF353841 BF204121 AB043819 BC069485 AA308708 BE294264

AB043820 AA494446 AB043821 NM_016363 BV189301 BF353858 BX283866 BF353812

BF353842 BF353837 BF353827 BF353843 BQ216894 AB035073 BF353835 BF205319

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for GP6 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7a	·	7b
SP1:									-
SP2:									-
SP3:

ECgene alternative splicing isoforms for GP6

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GP6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TACTGCAATA

About this image

GP6 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Endothelium (Cardiovascular System)
Mature Endothelial Cells Blood Brain Barrier

Brain (Nervous System)
Mature Endothelial Cells Blood Brain Barrier

GP6 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

GP6 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.661752

UniProtKB/Swiss-Prot: GPVI_HUMAN, Q9HCN6

Tissue specificity: Megakaryocytes and platelets

Custom PCR Arrays for GP6

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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 GP6 gene from Selected species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gp6^{1 , 5}	glycoprotein 6 (platelet)^{1, 5}	73.01(n)¹ 69.55(a)¹		7 (2.52 cM)⁵ 243816¹ NM_001163014.1¹ NP_001156486.1¹ 4368713⁵
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	12(a)	1 → many	GL343329.1(823590-844642)

ENSEMBL Gene Tree for GP6 (if available)
TreeFam Gene Tree for GP6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for GP6 gene

LILRB4² KIR2DL4² LILRB1² KIR2DS4² LILRA6² LILRA5² IGSF1² KIR3DL1²

OSCAR² NCR1² LILRA4² ENSG00000217792² TARM1² KIR3DX1² LILRA3² LILRB5²

KIR3DL3² LILRA1² KIR3DS1² KIR2DL1² LILRB2² A1BG² KIR3DL2² LILRA2²

KIR2DL3² FCAR² LILRB3²

Selected SIMAP similar genes for GP6 using alignment to 2 protein entries: GPVI_HUMAN (see all proteins) (see all similar genes):

LILRB3 LAIR1 KIR-G1 p58 LAIR2 p140

KIR-K36 KIR-G2 KIR-K9 KIR-K15 KIR-K3 KIR-K78

KIR3DL1 KIR-K65 KIR-K64 FCAR KIR-K61 KIR3DX1

Find genes that share paralogs with GP6 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_066591⁴		Bleeding disorder, platelet-type 11 (BDPLT11)⁴	--	see VAR_066591	2	S N	mis⁴		0	--	--	--	--
VAR_066590⁴		Bleeding disorder, platelet-type 11 (BDPLT11)⁴	--	see VAR_066590	2	R C	mis⁴		0	--	--	--	--
rs144511075^1,2	C	--	51875077(+)	`TGCCTC/TAGCCT`	3	--	us2k¹		0	--	--	--	--
rs1654438^1,2	C,F	--	51875096(+)	`GCTGGG/AACTAC`	3	--	us2k¹		2		NA WA	4
rs202092527^1,2	C	--	55526937(-)	`GTGTAA/GANNNN`	24	--	int¹		0	--	--	--	--
rs67803229^1,2	C	--	55531573(+)	`TAAAC-/CTTT TTTTT`	3	--	int¹		0	--	--	--	--
rs113963498^1,2	F	--	55532029(+)	`TTGTGC/AATAGT`	3	--	int¹		1		CSA	1
rs71181728^1,2	C	--	55532732(-)	`TTTTT-/TTGAGAT`	24	--	int¹		1		NA	2
rs111700310^1,2	C,F	--	55533013(+)	`CCTCCC/TGAATA`	3	--	int¹		1		NA	2
rs112609459^1,2	C	--	55534213(+)	`CTGCTC/AAAGAA`	24	--	int¹		2		NA CSA	2

HapMap Linkage Disequilibrium report for GP6 (55525073 - 55549632 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for GP6 (see all 16): About this table

Variant ID	Type	Subtype	PubMed ID
esv2718937	CNV	Deletion	23290073
esv2667609	CNV	Deletion	23128226
nsv821557	CNV	Deletion	20802225
esv2718936	CNV	Deletion	23290073
dgv580e201	CNV	Deletion	23290073
esv2659880	CNV	Deletion	23128226
esv2718872	CNV	Deletion	23290073
esv2718938	CNV	Deletion	23290073
dgv579e201	CNV	Deletion	23290073
nsv833880	CNV	Loss	17160897

Human Gene Mutation Database (HGMD): GP6

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing GP6

DNA2.0 Custom Variant and Variant Library Synthesis for GP6

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 605546
OMIM disorders: 614201
UniProtKB/Swiss-Prot: GPVI_HUMAN, Q9HCN6

Bleeding disorder, platelet-type 11 (BDPLT11) [MIM:614201]: A mild to moderate bleeding disorder caused

by defective platelet activation and aggregation in response to collagen. Note=The disease is caused by mutations

affecting the gene represented in this entry

5 diseases for GP6:
About MalaCards

cervix uteri carcinoma in situ glycoprotein 1a deficiency bleeding disorder, platelet-type, 11 gray platelet syndrome

coronary thrombosis

3 inferred disease relationships from the University of Copenhagen DISEASES database for GP6:

Cervical cancer Cervix uteri carcinoma in situ Carcinoma

Find genes that share disorders with GP6 About GenesLikeMe

Selected Novoseek inferred disease relationships for GP6 gene (see all 20) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
thrombosis	59.1	15	15150079 (1), 16788317 (1), 18585516 (1), 8735822 (1) (see all 7)
arterial thrombosis	58.1	4	15505105 (1), 16923742 (1), 15507524 (1)
bleeding tendency	55.4	5	7530476 (2), 19065783 (1), 14675102 (1)
abnormal platelets	53.8	2	1518178 (1), 17539777 (1)
thrombocytopenia	35.2	4	18194481 (1), 18382762 (1), 15701726 (1)
atherosclerotic plaque	34.7	2	15306180 (1), 15923400 (1)
myocardial infarction	34.6	7	19686349 (1), 16250859 (1), 18231933 (1), 12417295 (1) (see all 6)
bleeding	33.6	11	14652648 (2), 12359731 (1), 15505105 (1), 17059472 (1) (see all 10)
collagen fibril	32.4	1	19486274 (1)
coronary artery disease	31.8	7	18585516 (2), 19404545 (1), 16493486 (1), 20049463 (1) (see all 5)

Genetic Association Database (GAD): GP6
Human Genome Epidemiology (HuGE) Navigator: GP6 (28 documents)

Export disorders for GP6 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GP6 gene, integrated from 10 sources (see all 300):
(articles sorted by number of sources associating them with GP6)

Molecular cloning, genomic structure, chromosomal localization, and alternative splice forms of the platelet collagen receptor glycoprotein VI. (PubMed id 11027634)^{1, 2, 3, 9} Ezumi Y.... Takayama H. (Biochem. Biophys. Res. Commun. 2000)
Cloning, characterization, and functional studies of human and mouse glycoprotein VI: a platelet-specific collagen receptor from the immunoglobulin superfamily. (PubMed id 10961879)^{1, 2, 9} Jandrot-Perrus M.... Villeval J.-L. (Blood 2000)
Gain- and loss-of-function mutants confirm the importance of apical residues to the primary interaction of human glycoprotein VI with collagen. (PubMed id 16405521)^{1, 2, 9} O'connor M.N.... Ouwehand W.H. (J. Thromb. Haemost. 2006)
The influence of N-linked glycosylation on the function of platelet glycoprotein VI. (PubMed id 16014566)^{1, 2, 9} Kunicki T.J.... Furihata K. (Blood 2005)
Structural basis for platelet collagen responses by the immune-type receptor glycoprotein VI. (PubMed id 16861347)^{1, 2, 9} Horii K.... Herr A.B. (Blood 2006)
Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. (PubMed id 19549989)^{1, 2, 9} Dumont B.... Jandrot-Perrus M. (Blood 2009)
A novel association of Fc receptor gamma-chain with glycoprotein VI and their co-expression as a collagen receptor in human platelets. (PubMed id 9295288)^{1, 2, 9} Tsuji M.... Takayama H. (J. Biol. Chem. 1997)
Lack of association between aspirin responsiveness and seven candidate gene haplotypes in patients with symptomatic vascular disease. (PubMed id 19132198)^{1, 4, 9} Kunicki T.J....Rothwell P.M. (Thromb. Haemost. 2009)
Genetics of platelet reactivity in normal, healthy individuals. (PubMed id 19740098)^{1, 4, 9} Kunicki T.J....Nugent D.J. (J. Thromb. Haemost. 2009)
High loading dose of clopidogrel is unable to satisfactorily inhibit platelet reactivity in patients with glycoprotein IIIA gene polymorphism: a genetic substudy of PRAGUE-8 trial. (PubMed id 19530321)^{1, 4, 9} Motovska Z....Kala P. (amp 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 51206	HGNC: 14388	AceView: GP6	Ensembl:ENSG00000088053	euGenes: HUgn51206
ECgene: GP6	Kegg: 51206	H-InvDB: GP6

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for GP6	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GP6 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for GP6 gene:
Search GeneIP for patents involving GP6

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

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Coronary Artery Disease
Myeloproliferative Disorders
ABNORMAL PLATELETS
ARTERIAL THROMBOSIS
atherosclerotic plaque
Bleeding
coagulopathy
Leukemia
Myocardial Ischemia
STROKE
Purpura Thrombocytopenic Idiopathic
Cardiovascular Diseases
Thrombosis
Necrosis
BLEEDING TENDENCY
Thrombocytopenia
Collagen fibril
Coronary Heart Disease
Thromboembolism
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GP6 Gene

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