Gene Gene information from NCBI Gene database.
Entrez ID 51206
Gene name Glycoprotein VI platelet
Gene symbol GP6
Synonyms (NCBI Gene)
BDPLT11GPIVGPVI
Chromosome 19
Chromosome location 19q13.42
Summary 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 com
miRNA miRNA information provided by mirtarbase database.
94
miRTarBase ID miRNA Experiments Reference
MIRT1028005 hsa-miR-1343 CLIP-seq
MIRT1028006 hsa-miR-1976 CLIP-seq
MIRT1028007 hsa-miR-25 CLIP-seq
MIRT1028008 hsa-miR-3120-3p CLIP-seq
MIRT1028009 hsa-miR-3138 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
ETS1 Activation 12377757
FLI1 Activation 12359731
GATA1 Activation 12377757
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0002764 Process Immune response-regulating signaling pathway IBA
GO:0004888 Function Transmembrane signaling receptor activity TAS 10822077
GO:0005515 Function Protein binding IPI 1715582, 19940238
GO:0005518 Function Collagen binding IEA
GO:0005518 Function Collagen binding TAS 9153205, 11027634
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605546 14388 ENSG00000088053
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCN6
Protein name Platelet glycoprotein VI (GPVI) (Glycoprotein 6)
Protein 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 th
PDB 2GI7 , 5OU7 , 5OU8 , 5OU9 , 7NMU , 7R58
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13895 Ig_2 27 107 Immunoglobulin domain Domain
PF13895 Ig_2 113 202 Immunoglobulin domain Domain
Tissue specificity TISSUE SPECIFICITY: Megakaryocytes and platelets. {ECO:0000269|PubMed:10961879}.
Sequence
MSPSPTALFCLGLCLGRVPAQSGPLPKPSLQALPSSLVPLEKPVTLRCQGPPGVDLYRLE
KLSSSRYQDQAVLFIPAMKRSLAGRYRCSYQNGSLWSLPSDQLELVA
TGVFAKPSLSAQP
GPAVSSGGDVTLQCQTRYGFDQFALYKEGDPAPYKNPERWYRASFPIITVTAAHSGTYRC
YSFSSRDPYLWSAPSDPLELVV
TGTSVTPSRLPTEPPSPVAEFSEATAELTVSFTNEVFT
TETSRSITASPKESDSPAGPARQYYTKGNLVRICLGAVILIILAGFLAEDWHSRRKRLRH
RGRAVQRPLPPLPPLPLTRKSNGGQDGGRQDVHSRGLCS
Sequence length 339
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ECM-receptor interaction
Platelet activation
  GPVI-mediated activation cascade
Cell surface interactions at the vascular wall
Platelet Adhesion to exposed collagen
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Platelet-type bleeding disorder 11 Pathogenic; Likely pathogenic rs778336022, rs754929349, rs760074158, rs2146873791 RCV005361593
RCV002254221
RCV003148294
RCV000023461
RCV000023463
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormal bleeding Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLEEDING DIATHESIS DUE TO GLYCOPROTEIN VI DEFICIENCY Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 11 CTD, HPO
CTD, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Cerebrovascular Accidents Stroke BEFREE 31263257
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 31165998
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32812532 Associate
★☆☆☆☆
Found in Text Mining only
Amegakaryocytic thrombocytopenia Amegakaryocytic thrombocytopenia BEFREE 18194481
★☆☆☆☆
Found in Text Mining only
Androgen Insensitivity Syndrome Androgen insensitivity syndrome Pubtator 34867780 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 15277394
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 23739280
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 15277394
★☆☆☆☆
Found in Text Mining only
Bleeding diathesis due to glycoprotein VI deficiency Bleeding Disorder Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 17910626, 19552682, 20680227, 23815599, 28704418, 29995658
★☆☆☆☆
Found in Text Mining only