Human Gene GP6 (uc002qil.3)
  Description: Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 1, mRNA.
RefSeq Summary (NM_001083899): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:55,525,075-55,549,632 Size: 24,558 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr19:55,525,450-55,549,604 Size: 24,155 Coding Exon Count: 8 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:55,525,075-55,549,632)mRNA (may differ from genome)Protein (620 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCLynxMalacardsMGIOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GP6
CDC HuGE Published Literature: GP6
Positive Disease Associations: myocardial infarct; thrombosis, deep vein , Platelet Aggregation , venous thrombosis
Related Studies:
  1. myocardial infarct; thrombosis, deep vein
    Ollikainen, E. et al. 2004, Platelet membrane collagen receptor glycoprotein VI polymorphism is associated with coronary thrombosis and fatal myocardial infarction in middle-aged men., Atherosclerosis. 2004 Sep;176(1):95-9. [PubMed 15306180]
    Our findings support previous results on the role of this GPVI polymorphism, or another linked polymorphism, as a possible predictor of the risk of coronary thrombosis.
  2. Platelet Aggregation
    Andrew D Johnson et al. Nature genetics 2010, Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists., Nature genetics. [PubMed 20526338]
  3. venous thrombosis
    Bezemer, I.D. et al, JAMA. 2008;299(11):1306-14, Gene variants associated with deep vein thrombosis, JAMA. [PubMed 18349091]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: GP6
Diseases sorted by gene-association score: bleeding disorder, platelet-type, 11* (1670), cervical adenosarcoma (4), von willebrand disease, type 1 (4), sticky platelet syndrome (3), myocardial infarction (2), balanoposthitis (2), inverted follicular keratosis (2), gray platelet syndrome (2), cervix uteri carcinoma in situ (2), cervical carcinosarcoma (2), stroke, ischemic (1), tonsil cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.60 RPKM in Testis
Total median expression: 18.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.8028-0.207 Picture PostScript Text
3' UTR -91.60375-0.244 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF13895 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

ModBase Predicted Comparative 3D Structure on Q9HCN6-3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AB043819 - Homo sapiens GPVI mRNA for platelet glycoprotein VI-1, complete cds.
AB043820 - Homo sapiens GPVI mRNA for platelet glycoprotein VI-2, complete cds.
AB043821 - Homo sapiens GPVI mRNA for platelet glycoprotein VI-3, complete cds.
JD250259 - Sequence 231283 from Patent EP1572962.
JD085255 - Sequence 66279 from Patent EP1572962.
JD447755 - Sequence 428779 from Patent EP1572962.
JD206806 - Sequence 187830 from Patent EP1572962.
JD536114 - Sequence 517138 from Patent EP1572962.
JD229707 - Sequence 210731 from Patent EP1572962.
JD381684 - Sequence 362708 from Patent EP1572962.
JD041806 - Sequence 22830 from Patent EP1572962.
JD037525 - Sequence 18549 from Patent EP1572962.
JD290519 - Sequence 271543 from Patent EP1572962.
BC069485 - Homo sapiens cDNA clone IMAGE:7262404, containing frame-shift errors.
JD409898 - Sequence 390922 from Patent EP1572962.
BC104832 - Homo sapiens glycoprotein VI (platelet), mRNA (cDNA clone MGC:132492 IMAGE:8143835), complete cds.
BC111963 - Homo sapiens glycoprotein VI (platelet), mRNA (cDNA clone MGC:138168 IMAGE:8327431), complete cds.
AB035073 - Homo sapiens gpVI mRNA for platelet glycoprotein VI, complete cds.
KJ898859 - Synthetic construct Homo sapiens clone ccsbBroadEn_08253 GP6 gene, encodes complete protein.
KR712161 - Synthetic construct Homo sapiens clone CCSBHm_00036331 GP6 (GP6) mRNA, encodes complete protein.
AK310288 - Homo sapiens cDNA, FLJ17330.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04512 - ECM-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein Q9HCN6 (Reactome details) participates in the following event(s):

R-HSA-210282 Interaction of GPVI and FceRI gamma
R-HSA-432295 GPVI binds Fyn and Lyn
R-HSA-114577 Binding of GPVI:Fc Epsilon R1 gamma receptor complex with collagen
R-HSA-114600 Fyn/Lyn-mediated phosphorylation of FcR1 gamma
R-HSA-139842 Binding of Syk tyrosine kinase
R-HSA-453183 p-Y348-SYK dissociates
R-HSA-453200 SYK autophosphorylates
R-HSA-75892 Platelet Adhesion to exposed collagen
R-HSA-109582 Hemostasis
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-114604 GPVI-mediated activation cascade
R-HSA-76002 Platelet activation, signaling and aggregation

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001083899, NP_001077368, Q9HCN6-3
UCSC ID: uc002qil.3
RefSeq Accession: NM_001083899
Protein: Q9HCN6-3 CCDS: CCDS42626.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001083899.1
exon count: 8CDS single in 3' UTR: no RNA size: 2268
ORF size: 1863CDS single in intron: no Alignment % ID: 99.91
txCdsPredict score: 3000.00frame shift in genome: no % Coverage: 99.91
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.