PF4 (Platelet Factor 4) Gene
Chemokine, platelet-derived, involved in coagulation, angiogenesis, and immune modulation
Gene Information Card
| Symbol | PF4 |
|---|---|
| Full Name | Platelet Factor 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 5196 ncbi.nlm.nih.gov/gene/5196 |
| Ensembl ID | ENSG00000163737 |
| UniProt ID | P02776 |
| OMIM ID | 173460 |
| HGNC ID | 8861 |
| Aliases | CXCL4, SCYB4, PF-4, MGC138298 |
Description
PF4 (Platelet Factor 4) is a small chemokine (C-X-C motif) ligand 4 released from platelet alpha granules during platelet activation. It binds to heparin and neutralizes its anticoagulant activity, promotes blood coagulation, modulates angiogenesis, and regulates immune responses. PF4 is also a major autoantigen in heparin-induced thrombocytopenia (HIT).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heparin-induced thrombocytopenia (HIT) | PF4 forms complexes with heparin, triggering anti-PF4/heparin antibodies that activate platelets, leading to thrombocytopenia and thrombosis. | ClinVar, OMIM |
| Thrombosis | PF4 promotes platelet aggregation and thrombus formation via interaction with heparin and endothelial cells. | OMIM, NCBI |
| Atherosclerosis | PF4 contributes to vascular inflammation and plaque formation by recruiting monocytes and promoting foam cell formation. | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 0.0 | Not detected |
| Whole Blood | 0.0 | Not detected |
| Platelets (isolated) | High (specific) | High (specific) |
| Lung | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Megakaryocytes (primary) | High | Major source of PF4 |
| Platelets (primary) | High | Stored in alpha granules |
| HEK293 | 0.0 | Not expressed |
| K562 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ala34Val) | missense | <0.01% | Unknown; rare variant in population databases |
| c.148G>A (p.Gly50Ser) | missense | <0.01% | Unknown; rare variant in population databases |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chemokine signaling pathway (KEGG: hsa04062)
• Platelet activation
• signaling and aggregation (Reactome: R-HSA-76002)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
PF4 (Platelet Factor 4) is a 7.8 kDa chemokine (CXCL4) composed of 101 amino acids. It forms tetramers and binds heparin with high affinity. PF4 is stored in platelet alpha granules and released upon platelet activation. It modulates coagulation by neutralizing heparin, promotes angiogenesis, and acts as a chemoattractant for neutrophils and monocytes. PF4 is the key autoantigen in heparin-induced thrombocytopenia (HIT), where antibodies against PF4/heparin complexes cause platelet activation and thrombosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PF4V1 Knockout HEK293 Cell Line | EDJ-KQ5441 | Human | 5197 | Details Get a Quote |
| PF4 Knockout HEK293 Cell Line | EDJ-KQ50509 | Human | 5196 | Details Get a Quote |
| PF4 Knockout HeLa Cell Line | EDJ-KQ54119 | Human | 5196 | Details Get a Quote |
| PF4V1 Knockout HeLa Cell Line | EDJ-KQ54120 | Human | 5197 | Details Get a Quote |
| PF4 Knockout A-549 Cell Line | EDJ-KQ62607 | Human | 5196 | Details Get a Quote |
| PF4V1 Knockout A-549 Cell Line | EDJ-KQ62608 | Human | 5197 | Details Get a Quote |
| PF4 Knockout HCT 116 Cell Line | EDJ-KQ71081 | Human | 5196 | Details Get a Quote |
| PF4V1 Knockout HCT 116 Cell Line | EDJ-KQ71082 | Human | 5197 | Details Get a Quote |
