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Aliases for GP6 Gene

Aliases for GP6 Gene

  • Glycoprotein VI Platelet 2 3 5
  • Platelet Glycoprotein VI 2 3
  • Glycoprotein 6 3 4
  • GPVI 3 4
  • Glycoprotein VI (Platelet) 2
  • Platelet Collagen Receptor 3
  • 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 Cervical Adenosarcoma. Among its related pathways are G beta-gamma signalling through PI3Kgamma and Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include receptor activity and collagen binding. An important paralog of this gene is LILRB1.

UniProtKB/Swiss-Prot 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/Lyn), the adapter protein LAT and leads to the activation of phospholipase C gamma2.

Gene Wiki entry for GP6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GP6 Gene

Genomics for GP6 Gene

Regulatory Elements for GP6 Gene

Enhancers for GP6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G055086 1.7 FANTOM5 ENCODE dbSUPER 11.3 -49.6 -49555 2.5 HNRNPUL1 HDGF PKNOX1 MLX AGO1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 EPS8L1 ZNF628 U2AF2 PRPF31 ZNF581 LENG8-AS1 PPP1R12C GP6 ENSG00000267523 ENSG00000235681
GH19G055075 1.5 Ensembl ENCODE dbSUPER 11.6 -37.9 -37852 2.1 ATF1 PKNOX1 AGO1 ARID4B SIN3A ZNF2 YY1 ZNF121 ZNF263 SP3 EPS8L1 PRPF31 ENSG00000235681 LENG8-AS1 RDH13 U2AF2 ENSG00000267523 GP6 ENSG00000267096 TNNT1
GH19G055091 1.3 Ensembl ENCODE 11.4 -55.0 -54977 3.3 HDGF ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 EPS8L1 PPP1R12C LENG8-AS1 ENSG00000235681 ZNF580 RDH13 FIZ1 PRPF31 GP6 TNNI3
GH19G055005 1.1 ENCODE 11.8 +31.8 31785 2.1 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A ZNF2 ZNF766 CBX5 ZNF416 PRPF31 RDH13 ENSG00000267265 NLRP2 ENSG00000243494 NLRP7 GP6 EPS8L1 ENSG00000235681 LENG8-AS1
GH19G055009 0.8 Ensembl 11.8 +29.2 29164 0.2 HDAC1 KLF1 CHD4 CEBPG FOXK2 ADNP TRIM24 ZNF639 SP3 NR2F1 ENSG00000267265 GP6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GP6 on UCSC Golden Path with GeneCards custom track

Genomic Location for GP6 Gene

Chromosome:
19
Start:
55,013,705 bp from pter
End:
55,038,264 bp from pter
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.

    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 isoforms=2, 392

Other Protein References for GP6 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for GP6

No data available for DME Specific Peptides for GP6 Gene

Domains & Families for GP6 Gene

Protein Domains for GP6 Gene

Suggested Antigen Peptide Sequences for GP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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/Lyn), the adapter protein LAT and leads to the activation of phospholipase C gamma2.

Gene Ontology (GO) - Molecular Function for GP6 Gene

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
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 tm1Ware
  • Gp6 tm1Beni
  • Gp6 tm2b(EUCOMM)Hmgu

Animal Model Products

  • Taconic Biosciences Mouse Models for GP6

Inhibitory RNA Products

Clone Products

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 5
cytosol 2
cytoskeleton 1
mitochondrion 1
lysosome 1

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 IDA 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

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 TAS --
GO:0050900 leukocyte migration TAS --
genes like me logo Genes that share ontologies with GP6: view

No data available for SIGNOR curated interactions for GP6 Gene

Drugs & Compounds for GP6 Gene

(16) 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 1152
PR-15 Pharma 0

(15) 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

Unigene Clusters for GP6 Gene

Glycoprotein VI (platelet):
Representative Sequences:

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
GP6

Expression for GP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for GP6 Gene



Protein tissue co-expression partners for GP6 Gene

NURSA nuclear receptor signaling pathways regulating expression of GP6 Gene:

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
Organs:
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

Primer Products

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 34 35
  • 95.72 (n)
dog
(Canis familiaris)
Mammalia GP6 34 35
  • 79.08 (n)
mouse
(Mus musculus)
Mammalia Gp6 34 16 35
  • 73.01 (n)
cow
(Bos Taurus)
Mammalia GP6 35
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gp6 34
  • 71.16 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 36 (a)
OneToMany
-- 35
  • 35 (a)
OneToMany
-- 35
  • 32 (a)
OneToMany
-- 35
  • 30 (a)
OneToMany
-- 35
  • 29 (a)
OneToMany
-- 35
  • 24 (a)
OneToMany
-- 35
  • 23 (a)
OneToMany
-- 35
  • 19 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 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)

Paralogs for GP6 Gene

Variants for GP6 Gene

Sequence variations from dbSNP and Humsavar for GP6 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs199588110 Bleeding disorder, platelet-type 11 (BDPLT11) [MIM:614201]
rs387906919 Bleeding disorder, platelet-type 11 (BDPLT11) [MIM:614201]
rs1613662 --
rs1654412 --
rs1654413 --

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)

Relevant External Links for GP6 Gene

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

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

Disorders for GP6 Gene

MalaCards: The human disease database

(22) MalaCards diseases for GP6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type, 11
  • platelet-type bleeding disorder 11
cervical adenosarcoma
  • cervical muellerian adenosarcoma
sticky platelet syndrome
anogenital venereal wart
  • anogenital human papilloma virus infectious disease
balanoposthitis
- 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.

Relevant External Links for GP6

Genetic Association Database (GAD)
GP6
Human Genome Epidemiology (HuGE) Navigator
GP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GP6
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. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 22 64
  2. Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. (PMID: 19549989) Dumont B. … Jandrot-Perrus M. (Blood 2009) 3 4 22 64
  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 M.N. … Ouwehand W.H. (J. Thromb. Haemost. 2006) 3 4 22 64
  4. Structural basis for platelet collagen responses by the immune-type receptor glycoprotein VI. (PMID: 16861347) Horii K. … Herr A.B. (Blood 2006) 3 4 22 64
  5. Polymorphisms of COX-1 and GPVI associate with the antiplatelet effect of aspirin in coronary artery disease patients. (PMID: 16493486) LepAontalo A. … Lassila R. (Thromb. Haemost. 2006) 3 22 46 64

Products for GP6 Gene

Sources for GP6 Gene

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