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. Mutatio... See more...

Aliases for GP6 Gene

Aliases for GP6 Gene

  • Glycoprotein VI Platelet 2 3 5
  • Platelet Glycoprotein VI 2 3 4
  • Glycoprotein 6 3 4
  • GPVI 3 4
  • Platelet Collagen Receptor 3
  • Glycoprotein VI (Platelet) 2
  • BDPLT11 3
  • GPIV 3

External Ids for GP6 Gene

Previous GeneCards Identifiers for GP6 Gene

  • GC19M056387
  • GC19M055949
  • GC19M060201
  • GC19M060216
  • GC19M055525
  • GC19M051846

Summaries for GP6 Gene

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 Bleeding Disorder, Platelet-Type, 11 and Sticky Platelet Syndrome. Among its related pathways are Cell surface interactions at the vascular wall and Platelet Adhesion to exposed collagen. Gene Ontology (GO) annotations related to this gene include collagen binding. An important paralog of this gene is LILRB1.

UniProtKB/Swiss-Prot Summary for GP6 Gene

  • 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 or LYN) and SYK, the adapter protein LAT and leads to the activation of PLCG2.

Gene Wiki entry for GP6 Gene

Additional gene information for GP6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GP6 Gene

Genomics for GP6 Gene

GeneHancer (GH) Regulatory Elements for GP6 Gene

Promoters and enhancers for GP6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J055038 Promoter/Enhancer 1.3 EPDnew dbSUPER 500.7 0.0 -20 0.1 POLR2G ZNF263 ZBTB11 AFF1 TARDBP REST HES1 TOE1 MYC CTBP1 GP6 lnc-EPS8L1-1 ENSG00000267149 ENSG00000267265
GH19J055005 Promoter/Enhancer 1.3 Ensembl ENCODE 20.1 +28.9 28927 7.8 ZBTB40 EP300 POLR2A ZBTB11 GABPA AFF1 TARDBP TOE1 MYC CTBP1 piR-37567-081 piR-30956-009 RDH13 ENSG00000267265 NLRP2 GP6 PRPF31 NLRP7 ENSG00000243494 EPS8L1
GH19J055087 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -49.4 -49353 2.9 EP300 CTCF ZNF740 SMC3 MXI1 POLR2A EZH2 HDAC2 KLF9 POLR2G NONHSAG026556.2 EPS8L1 PPP1R12C GP6 BRSK1 HSALNG0127604
GH19J055075 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 11.6 -37.9 -37852 2.1 TEAD4 ZFX CLOCK RFX1 CTBP1 RBM25 NFIC POLR2A NR3C1 SPI1 EPS8L1 RDH13 GP6 TNNT1 HSALNG0127601
GH19J055091 Promoter/Enhancer 1 Ensembl ENCODE CraniofacialAtlas 11.4 -54.2 -54196 1.5 USF1 POLR2G POLR2A SIN3A NR3C1 ZBTB33 TAF1 HSALNG0127604 PPP1R12C EPS8L1 RDH13 GP6 TNNI3 DNAAF3 ENSG00000239137 lnc-RDH13-13 NONHSAG026556.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GP6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GP6

Top Transcription factor binding sites by QIAGEN in the GP6 gene promoter:
  • AP-4
  • GATA-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • NRSF form 1
  • NRSF form 2
  • Sp1

Genomic Locations for GP6 Gene

Genomic Locations for GP6 Gene
chr19:55,013,705-55,038,264
(GRCh38/hg38)
Size:
24,560 bases
Orientation:
Minus strand
chr19:55,525,073-55,549,632
(GRCh37/hg19)
Size:
24,560 bases
Orientation:
Minus strand

Genomic View for GP6 Gene

Genes around GP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GP6 Gene

Proteins for GP6 Gene

  • Protein details for GP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCN6-GPVI_HUMAN
    Recommended name:
    Platelet glycoprotein VI
    Protein Accession:
    Q9HCN6
    Secondary Accessions:
    • Q9HCN7
    • Q9UIF2

    Protein attributes for GP6 Gene

    Size:
    339 amino acids
    Molecular mass:
    36866 Da
    Quaternary structure:
    • Associated with Fc receptor gamma chain. The GPVI:FcRgamma complex is associated with the Src kinase family FYN and LYN (PubMed:10961879, PubMed:9295288). Interacts with COL1A1, but not with COL4A4 (By similarity).
    • (Microbial infection) Interacts with Staphylococcus aureus protein SSL5.
    Miscellaneous:
    • [Isoform 3]: Has no transmembrane domain. Does not interact with Fc receptor gamma chain. Does not bind to collagen-like peptides.

    Three dimensional structures from OCA and Proteopedia for GP6 Gene

    Alternative splice isoforms for GP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GP6 Gene

Post-translational modifications for GP6 Gene

  • 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).
  • Glycosylation at Asn92
  • Modification sites at PhosphoSitePlus

Other Protein References for GP6 Gene

No data available for DME Specific Peptides for GP6 Gene

Domains & Families for GP6 Gene

Gene Families for GP6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GP6 Gene

Blocks:
  • Immunoglobulin subtype
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GP6 Gene

GenScript: Design optimal peptide antigens:
  • Glycoprotein 6 (GPVI_HUMAN)
  • Platelet glycoprotein VI (Q9HCN5_HUMAN)
genes like me logo Genes that share domains with GP6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GP6 Gene

Function for GP6 Gene

Molecular function for GP6 Gene

UniProtKB/Swiss-Prot 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 or LYN) and SYK, the adapter protein LAT and leads to the activation of PLCG2.

Phenotypes From GWAS Catalog for GP6 Gene

Gene Ontology (GO) - Molecular Function for GP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 10822077
GO:0005515 protein binding IPI 1715582
GO:0005518 collagen binding TAS 11027634
GO:0038023 signaling receptor activity TAS 11027634
genes like me logo Genes that share ontologies with GP6: view
genes like me logo Genes that share phenotypes with GP6: view

Human Phenotype Ontology for GP6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GP6 Gene

MGI Knock Outs for GP6:
  • Gp6 Gp6<tm2b(EUCOMM)Hmgu>
  • Gp6 Gp6<tm1Ware>
  • Gp6 Gp6<tm1Beni>

Animal Model Products

  • Taconic Biosciences Mouse Models for GP6

CRISPR Products

Clone Products

  • Addgene plasmids for GP6

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for GP6 Gene

Localization for GP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GP6 Gene

[Isoform 1]: Cell membrane; Single-pass membrane protein.
[Isoform 2]: Cell membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GP6 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10822077
GO:0009986 cell surface HDA 23382103
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GP6: view

Pathways & Interactions for GP6 Gene

genes like me logo Genes that share pathways with GP6: view

SIGNOR curated interactions for GP6 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007167 enzyme linked receptor protein signaling pathway TAS 9153205
GO:0007596 blood coagulation TAS --
GO:0007599 hemostasis IEA --
GO:0030168 platelet activation NAS,TAS --
GO:0050900 leukocyte migration TAS --
genes like me logo Genes that share ontologies with GP6: view

Drugs & Compounds for GP6 Gene

(17) Drugs for GP6 Gene - From: PharmGKB, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved, Vet_approved Pharma Channel blocker 1440
PR-15 Pharma 0

(14) Additional Compounds for GP6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GP6: view

Transcripts for GP6 Gene

mRNA/cDNA for GP6 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for GP6

Alternative Splicing Database (ASD) splice patterns (SP) for GP6 Gene

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

Relevant External Links for GP6 Gene

GeneLoc Exon Structure for
GP6

Expression for GP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GP6 Gene

This gene is overexpressed in Whole Blood (x5.6) and Testis (x4.2).

Protein differential expression in normal tissues from HIPED for GP6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.3), Serum (20.1), and Platelet (14.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GP6 Gene



Protein tissue co-expression partners for GP6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GP6

SOURCE GeneReport for Unigene cluster for GP6 Gene:

Hs.661752

mRNA Expression by UniProt/SwissProt for GP6 Gene:

Q9HCN6-GPVI_HUMAN
Tissue specificity: Megakaryocytes and platelets.

Evidence on tissue expression from TISSUES for GP6 Gene

  • Blood(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GP6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
Regions:
Head and neck:
  • brain
  • face
  • head
  • nose
Pelvis:
  • uterus
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with GP6: view

Orthologs for GP6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GP6 31 30
  • 95.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GP6 31 30
  • 79.08 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gp6 17 31 30
  • 73.01 (n)
cow
(Bos Taurus)
Mammalia GP6 31
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gp6 30
  • 71.16 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 36 (a)
OneToMany
-- 31
  • 35 (a)
OneToMany
-- 31
  • 32 (a)
OneToMany
-- 31
  • 30 (a)
OneToMany
-- 31
  • 29 (a)
OneToMany
-- 31
  • 24 (a)
OneToMany
-- 31
  • 23 (a)
OneToMany
-- 31
  • 19 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 12 (a)
OneToMany
Species where no ortholog for GP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GP6 Gene

ENSEMBL:
Gene Tree for GP6 (if available)
TreeFam:
Gene Tree for GP6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GP6: view image

Paralogs for GP6 Gene

Variants for GP6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GP6 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
627048 Uncertain Significance: Abnormal bleeding 55,032,185(-) TC/T FRAMESHIFT_VARIANT
691634 Pathogenic: Platelet-type bleeding disorder 11 55,027,604(-) C/T MISSENSE_VARIANT
708353 Likely Benign: not provided 55,014,978(-) T/A NONSENSE,SYNONYMOUS_VARIANT
708641 Benign: not provided 55,015,113(-) C/T MISSENSE_VARIANT,SYNONYMOUS_VARIANT
711754 Benign: not provided 55,032,239(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GP6 Gene

Structural Variations from Database of Genomic Variants (DGV) for GP6 Gene

Variant ID Type Subtype PubMed ID
dgv1819n106 OTHER inversion 24896259
dgv3679n100 CNV loss 25217958
dgv538e201 CNV deletion 23290073
dgv539e201 CNV deletion 23290073
esv25428 CNV loss 19812545
esv2659880 CNV deletion 23128226
esv2667609 CNV deletion 23128226
esv2718872 CNV deletion 23290073
esv2718936 CNV deletion 23290073
esv2718937 CNV deletion 23290073
esv2718938 CNV deletion 23290073
esv2758772 CNV gain 17122850
esv2762052 CNV gain 21179565
esv2763211 CNV gain 21179565
esv3340815 CNV duplication 20981092
esv3391605 CNV duplication 20981092
esv3402335 CNV duplication 20981092
esv34356 CNV gain 17911159
esv3644827 CNV loss 21293372
esv3644828 CNV loss 21293372
esv3644829 CNV gain 21293372
esv3644830 CNV loss 21293372
esv3644831 CNV gain 21293372
nsv1062047 CNV gain 25217958
nsv1063883 CNV gain 25217958
nsv1079034 OTHER inversion 25765185
nsv1150276 OTHER inversion 26484159
nsv580341 CNV loss 21841781
nsv580342 CNV loss 21841781
nsv821557 CNV deletion 20802225
nsv833880 CNV loss 17160897

Variation tolerance for GP6 Gene

Residual Variation Intolerance Score: 89.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.60; 86.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GP6 Gene

Human Gene Mutation Database (HGMD)
GP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GP6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GP6 Gene

Disorders for GP6 Gene

MalaCards: The human disease database

(37) MalaCards diseases for GP6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GP6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GPVI_HUMAN
  • 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. {ECO:0000269 PubMed:19549989, ECO:0000269 PubMed:19552682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GP6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GP6: view

No data available for Genatlas for GP6 Gene

Publications for GP6 Gene

  1. Molecular cloning, genomic structure, chromosomal localization, and alternative splice forms of the platelet collagen receptor glycoprotein VI. (PMID: 11027634) Ezumi Y … Takayama H (Biochemical and biophysical research communications 2000) 2 3 4 23 54
  2. Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. (PMID: 19549989) Dumont B … Jandrot-Perrus M (Blood 2009) 3 4 23 54
  3. Gain- and loss-of-function mutants confirm the importance of apical residues to the primary interaction of human glycoprotein VI with collagen. (PMID: 16405521) O'Connor MN … Ouwehand WH (Journal of thrombosis and haemostasis : JTH 2006) 3 4 23 54
  4. Structural basis for platelet collagen responses by the immune-type receptor glycoprotein VI. (PMID: 16861347) Horii K … Herr AB (Blood 2006) 3 4 23 54
  5. Polymorphisms of COX-1 and GPVI associate with the antiplatelet effect of aspirin in coronary artery disease patients. (PMID: 16493486) Lepäntalo A … Lassila R (Thrombosis and haemostasis 2006) 3 23 41 54

Products for GP6 Gene

Sources for GP6 Gene