GP6: Glycoprotein VI Platelet Receptor
Key collagen receptor in platelet activation and thrombosis
Gene Information Card
| Symbol | GP6 |
|---|---|
| Full Name | Glycoprotein VI (platelet) |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 51206 ncbi.nlm.nih.gov/gene/51206 |
| Ensembl ID | ENSG00000188010 |
| UniProt ID | Q9HCN6 |
| OMIM ID | 605546 |
| HGNC ID | 14388 |
| Aliases | GPVI, GP6_HUMAN |
Description
The GP6 gene encodes glycoprotein VI (GPVI), a platelet-specific receptor for collagen. GPVI is essential for platelet adhesion and aggregation at sites of vascular injury. It is a member of the immunoglobulin superfamily and signals through the Fc receptor gamma-chain to initiate platelet activation. Mutations in GP6 cause platelet-type bleeding disorder 11 (BDPLT11), characterized by mild to moderate bleeding tendency and defective collagen-induced platelet aggregation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Platelet-type bleeding disorder 11 (BDPLT11) | Loss-of-function mutations in GP6 impair collagen-induced platelet aggregation, leading to defective hemostasis. | OMIM #614200; ClinVar pathogenic variants |
| Thrombosis (protective role) | Reduced GPVI function may protect against arterial thrombosis; GPVI deficiency is associated with decreased risk of myocardial infarction. | Case-control studies; PMID: 19278955 |
| Immune thrombocytopenia (ITP) | Anti-GPVI autoantibodies can cause platelet destruction and bleeding in ITP patients. | PMID: 16931626 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Platelets (isolated) | High (specific) | Platelet-specific expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Megakaryocytes (MEG-01) | High | GPVI is expressed during megakaryopoiesis |
| Platelets (primary) | High | Mature platelet surface receptor |
| HEK293T | 0.0 | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; premature stop codon, no protein expression |
| c.483delC (p.Phe162Serfs*12) | Frameshift | Rare | Loss of function; truncated protein |
| c.233G>A (p.Trp78*) | Nonsense | Rare | Loss of function; absent GPVI on platelet surface |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to absent or nonfunctional GPVI, causing BDPLT11.
Gain of Function (GOF)
No gain-of-function mutations reported in GP6.
Dominant Negative (DN)
No dominant-negative mutations reported; GPVI deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Platelet activation
• signaling and aggregation (Reactome: R-HSA-76002)
• GPVI-mediated activation cascade (Reactome: R-HSA-114604)
• Collagen binding and platelet adhesion (KEGG: hsa04611)
Protein Summary
Glycoprotein VI (GPVI) is a 58 kDa transmembrane receptor expressed exclusively on platelets and megakaryocytes. It consists of two extracellular immunoglobulin-like domains, a transmembrane domain, and a short cytoplasmic tail. GPVI binds collagen via its D1 and D2 domains and associates with the Fc receptor gamma-chain (FcRγ) to transduce activation signals. Upon collagen binding, GPVI triggers a signaling cascade involving Src family kinases, Syk, and PLCγ2, leading to platelet shape change, granule secretion, and aggregation. GPVI is a key target for antithrombotic therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GP6 Knockout HEK293 Cell Line | EDJ-KQ51293 | Human | 51206 | Details Get a Quote |
| GP6 Knockout HeLa Cell Line | EDJ-KQ56249 | Human | 51206 | Details Get a Quote |
| GP6 Knockout A-549 Cell Line | EDJ-KQ64738 | Human | 51206 | Details Get a Quote |
| GP6 Knockout HCT 116 Cell Line | EDJ-KQ73183 | Human | 51206 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
