GP5 (Glycoprotein V Platelet)
Platelet glycoprotein V, a component of the GPIb-V-IX receptor complex
Gene Information Card
| Symbol | GP5 |
|---|---|
| Full Name | Glycoprotein V Platelet |
| Gene Type | protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 2814 ncbi.nlm.nih.gov/gene/2814 |
| Ensembl ID | ENSG00000178732 |
| UniProt ID | P13224 |
| OMIM ID | 173511 |
| HGNC ID | 4445 |
| Aliases | CD42d, GPV |
Description
The GP5 gene encodes platelet glycoprotein V (GPV), a transmembrane protein that is part of the platelet glycoprotein Ib-V-IX receptor complex. This complex is essential for platelet adhesion to the subendothelium at sites of vascular injury via binding to von Willebrand factor. GPV is cleaved by thrombin during platelet activation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bernard-Soulier syndrome (BSS) | Loss-of-function mutations in GP5 disrupt the GPIb-V-IX complex, impairing platelet adhesion and causing macrothrombocytopenia. | ClinVar, OMIM |
| Platelet-type bleeding disorder | Homozygous or compound heterozygous GP5 mutations lead to reduced surface expression of the receptor complex. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Platelets (primary) | N/A | High expression; GP5 is a major platelet surface glycoprotein |
| Megakaryocytes (primary) | N/A | Expressed during megakaryopoiesis |
| HEK293 | 0.0 | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.97C>T (p.Arg33*) | Nonsense | Rare | Premature stop; loss of protein function |
| c.286_287del (p.Leu96Valfs*2) | Frameshift | Rare | Truncated protein; loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No translation initiation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most GP5 mutations are loss-of-function, leading to reduced or absent GPV on the platelet surface, causing Bernard-Soulier syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported in GP5.
Dominant Negative (DN)
No dominant-negative mutations reported; BSS is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • blood coagulation (GO:0007596) | • platelet alpha granule lumen (GO:0031093) |
| • GPIb-V-IX receptor complex (GO:0031594) |
Pathways
• Platelet adhesion to exposed collagen (Reactome: R-HSA-76009)
• GPIb-V-IX complex (Reactome: R-HSA-430116)
Protein Summary
Platelet glycoprotein V (GPV) is a 544-amino-acid transmembrane protein with a large extracellular domain containing leucine-rich repeats. It is non-covalently associated with GPIbα, GPIbβ, and GPIX to form the GPIb-V-IX complex. GPV is cleaved by thrombin during platelet activation, releasing a soluble fragment. Its primary function is to support platelet adhesion and thrombus formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GP5 Knockout HEK293 Cell Line | EDJ-KQ3977 | Human | 2814 | Details Get a Quote |
| GP5 Knockout HeLa Cell Line | EDJ-KQ53379 | Human | 2814 | Details Get a Quote |
| GP5 Knockout A-549 Cell Line | EDJ-KQ61855 | Human | 2814 | Details Get a Quote |
| GP5 Knockout HCT 116 Cell Line | EDJ-KQ70340 | Human | 2814 | Details Get a Quote |
