PEAR1: Platelet Endothelial Aggregation Receptor 1
A key regulator of platelet aggregation and thrombus formation
Gene Information Card
| Symbol | PEAR1 |
|---|---|
| Full Name | Platelet Endothelial Aggregation Receptor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 375033 ncbi.nlm.nih.gov/gene/375033 |
| Ensembl ID | ENSG00000187800 |
| UniProt ID | Q5VY43 |
| OMIM ID | 610278 |
| HGNC ID | 26938 |
| Aliases | JEDI, MEGF12, PEAR1 |
Description
PEAR1 (Platelet Endothelial Aggregation Receptor 1) encodes a transmembrane protein that acts as a receptor on platelets and endothelial cells. It plays a critical role in platelet aggregation, thrombus formation, and megakaryocyte differentiation. PEAR1 is activated by platelet-platelet contact and mediates sustained integrin activation and platelet spreading.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | PEAR1 variants influence platelet reactivity and thrombus formation, contributing to risk of myocardial infarction and stroke | ClinVar, NCBI |
| Bleeding disorders | Loss-of-function mutations impair platelet aggregation, leading to increased bleeding tendency | ClinVar |
| Thrombosis | Gain-of-function variants enhance platelet aggregation and thrombus stability | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Platelets | High | High |
| Bone marrow | Medium | Medium |
| Lung | Low | Low |
| Spleen | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Low | Overexpression studies |
| K562 | Medium | Megakaryocytic lineage |
| HUVEC | Low | Endothelial expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs12041331 | SNP | 0.35 (MAF) | Intronic; associated with altered platelet aggregation |
| rs12566888 | SNP | 0.20 (MAF) | Intronic; linked to cardiovascular risk |
| rs11264579 | SNP | 0.15 (MAF) | Intronic; modulates PEAR1 expression |
Mutation functional classification
Loss of Function (LOF)
Rare nonsense or frameshift variants that reduce PEAR1 protein expression or disrupt receptor function, impairing platelet aggregation.
Gain of Function (GOF)
Common intronic SNPs (e.g., rs12041331) that increase PEAR1 expression and enhance platelet reactivity, elevating thrombosis risk.
Dominant Negative (DN)
Not reported for PEAR1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • cell adhesion (GO:0007155) | • platelet activation (GO:0030168) |
| • platelet aggregation (GO:0070527) |
Pathways
• Platelet activation
• signaling and aggregation (Reactome: R-HSA-76002)
• Integrin signaling (Reactome: R-HSA-354192)
Protein Summary
PEAR1 is a single-pass type I membrane protein with 15 EGF-like domains and a cytoplasmic tail containing multiple tyrosine phosphorylation sites. It is expressed primarily on platelets and megakaryocytes. Upon platelet-platelet contact, PEAR1 becomes tyrosine-phosphorylated and recruits signaling proteins such as SHC1 and GRB2, leading to sustained integrin αIIbβ3 activation and stable thrombus formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEAR1 Knockout HEK293 Cell Line | EDJ-KQ11958 | Human | 375033 | Details Get a Quote |
| PEAR1 Knockout A-549 Cell Line | EDJ-KQ40494 | Human | 375033 | Details Get a Quote |
| PEAR1 Knockout HCT 116 Cell Line | EDJ-KQ40495 | Human | 375033 | Details Get a Quote |
| PEAR1 Knockout HeLa Cell Line | EDJ-KQ40496 | Human | 375033 | Details Get a Quote |
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