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GP6 Gene(Protein Coding)

Glycoprotein VI Platelet

GCID:
GC19M055013
GIFtS:
64
Genes Participants
UDN Logo

Aliases for GP6 Gene

Aliases for GP6 Gene

  • Glycoprotein VI Platelet 2 3
  • Glycoprotein VI (Platelet) 2 3 5
  • Glycoprotein 6 3 4
  • GPVI 3 4
  • Platelet Collagen Receptor 3
  • Platelet Glycoprotein VI 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 Bleeding Diathesis Due To Glycoprotein Vi Deficiency. Among its related pathways are Platelet activation and G beta-gamma signalling through PI3Kgamma. GO annotations related to this gene include receptor activity and collagen binding. An important paralog of this gene is KIR2DL4.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GP6 Gene

Genomics for GP6 Gene

Products:

  1. Regulatory Element

Regulatory Elements for GP6 Gene

Enhancers for GP6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GP6 on UCSC Golden Path with GeneCards custom track

Promoters for GP6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GP6 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GP6 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for GP6 Gene

Proteins for GP6 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for GP6 Gene at MOPED

Protein Expression for GP6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Asn 92
  • Modification sites at PhosphoSitePlus

Other Protein References for GP6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GP6 Gene

Domains & Families for GP6 Gene

Gene Families for GP6 Gene

HGNC:

Protein Domains for GP6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HCN6

UniProtKB/Swiss-Prot:

GPVI_HUMAN :
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
Domain:
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
genes like me logo Genes that share domains with GP6: view

Function for GP6 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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.

Phenotypes for GP6 Gene

MGI mutant phenotypes for GP6:
inferred from 3 alleles
GenomeRNAi human phenotypes for GP6:
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for GP6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for GP6 Gene COMPARTMENTS Subcellular localization image for GP6 gene
Compartment Confidence
extracellular 2
cytosol 1
lysosome 1
mitochondrion 1
nucleus 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for GP6 Gene

Pathways & Interactions for GP6 Gene

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

Gene Ontology (GO) - Biological Process for GP6 Gene

None

No data available for SIGNOR curated interactions for GP6 Gene

Drugs & Compounds for GP6 Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved Pharma Channel blocker 1059
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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for GP6 Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(29) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GP6 Gene

Glycoprotein VI (platelet):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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

Products:

  1. Primer

mRNA expression in normal human tissues for GP6 Gene

mRNA expression in normal human tissues for GP6 Gene
mRNA expression by BioGPS for GP6 GenemRNA expression by GTEx 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



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.
genes like me logo Genes that share expression patterns with GP6: view

Protein tissue co-expression partners for GP6 Gene

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
dog
(Canis familiaris)
 Mammalia GP6 35
  • 79.08 (n)
  • 70.13 (a)
GP6 36
  • 61 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gp6 35
  • 73.01 (n)
  • 69.55 (a)
Gp6 16
Gp6 36
  • 61 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia GP6 35
  • 95.72 (n)
  • 94.1 (a)
GP6 36
  • 89 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Gp6 35
  • 71.16 (n)
  • 65.74 (a)
cow
(Bos Taurus)
 Mammalia GP6 36
  • 72 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 36
  • 36 (a)
 OneToMany
-- 36
  • 29 (a)
 OneToMany
-- 36
  • 19 (a)
 OneToMany
-- 36
  • 24 (a)
 OneToMany
-- 36
  • 35 (a)
 OneToMany
-- 36
  • 23 (a)
 OneToMany
-- 36
  • 32 (a)
 OneToMany
-- 36
  • 30 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 12 (a)
 OneToMany
Species with no ortholog for GP6:
  • 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

Paralogs for GP6 Gene

(33) SIMAP similar genes for GP6 Gene using alignment to 2 proteins:

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

Variants for GP6 Gene

Sequence variations from dbSNP and Humsavar for GP6 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_059389 -
VAR_059390 -
VAR_060352 -
VAR_060353 -
VAR_060354 -

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

Variant ID Type Subtype PubMed ID
esv2667609 CNV Deletion 23128226
esv2718872 CNV Deletion 23290073
nsv833880 CNV Loss 17160897
esv2659880 CNV Deletion 23128226
dgv4014n71 CNV Loss 21882294
nsv912446 CNV Loss 21882294
nsv912448 CNV Loss 21882294
dgv1131e1 CNV Complex 17122850
esv34356 CNV Gain 17911159
esv2718936 CNV Deletion 23290073
esv2718937 CNV Deletion 23290073
esv2718938 CNV Deletion 23290073
nsv821557 CNV Deletion 20802225
esv25428 CNV Loss 19812545
dgv579e201 CNV Deletion 23290073
dgv580e201 CNV Deletion 23290073

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

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

Disorders for GP6 Gene

MalaCards: The human disease database

(17) 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
  • bleeding disorder, platelet type 11
bleeding diathesis due to glycoprotein vi deficiency
cervical adenosarcoma
  • cervical mullerian adenosarcoma
cervix uteri carcinoma in situ
  • carcinoma in situ of cervix
chronic cervicitis
- 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 23 67
  2. Crystal structure and collagen-binding site of immune inhibitory receptor LAIR-1: unexpected implications for collagen binding by platelet receptor GPVI. (PMID: 20007810) Brondijk T.H. … Huizinga E.G. (Blood 2010) 3 23
  3. Non-genomic effects of PPARgamma ligands: inhibition of GPVI-stimulated platelet activation. (PMID: 20040043) Moraes L.A. … Gibbins J.M. (J. Thromb. Haemost. 2010) 3 23
  4. Platelet glycoprotein VI (GPVI) for early identification of acute coronary syndrome in patients with chest pain. (PMID: 20122713) Bigalke B. … Gawaz M. (Thromb. Res. 2010) 3 23
  5. GPIbalpha-selective activation of platelets induces platelet signaling events comparable to GPVI activation events. (PMID: 20367574) Gardiner E.E. … Berndt M.C. (Platelets 2010) 3 23

Products for GP6 Gene

Sources for GP6 Gene

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