PECAM1
Platelet and Endothelial Cell Adhesion Molecule 1 (CD31)
Gene Information Card
| Symbol | PECAM1 |
|---|---|
| Full Name | Platelet and Endothelial Cell Adhesion Molecule 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q23.3 |
| NCBI Gene ID | 5175 ncbi.nlm.nih.gov/gene/5175 |
| Ensembl ID | ENSG00000261371 |
| UniProt ID | P16284 |
| OMIM ID | 173445 |
| HGNC ID | 8823 |
| Aliases | CD31, PECAM-1, GPIIA', endoCAM |
Description
PECAM1 encodes platelet and endothelial cell adhesion molecule 1 (CD31), a 130 kDa transmembrane glycoprotein belonging to the immunoglobulin superfamily. It is expressed on the surface of platelets, endothelial cells, and subsets of leukocytes. PECAM1 mediates homophilic and heterophilic cell-cell adhesion, regulates leukocyte transendothelial migration, angiogenesis, platelet aggregation, and vascular permeability. Its cytoplasmic domain contains immunoreceptor tyrosine-based inhibitory motifs (ITIMs) that modulate intracellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | PECAM1 mediates leukocyte adhesion and transmigration across endothelium, promoting plaque formation. | ClinVar, NCBI |
| Thrombosis | PECAM1 on platelets supports aggregation and thrombus stabilization. | ClinVar, NCBI |
| Vascular inflammation | Loss of PECAM1 increases vascular permeability and inflammatory cell infiltration. | NCBI, OMIM |
| Cancer (angiogenesis) | PECAM1 expressed on tumor vasculature facilitates angiogenesis and metastasis. | COSMIC, NCBI |
| Hemangioma | Somatic mutations in PECAM1 have been reported in infantile hemangioma. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 78.5 | High |
| Heart | 62.3 | High |
| Placenta | 55.1 | High |
| Spleen | 48.7 | High |
| Liver | 12.4 | Medium |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 120.0 | High expression |
| Platelets | 85.0 | High expression |
| THP-1 (monocyte) | 30.5 | Moderate expression |
| Jurkat (T-cell) | 8.0 | Low expression |
| HeLa | 2.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1685G>A (p.Arg562His) | Missense | <0.01% | Alters ITIM domain; potential impact on signaling |
| c.2149C>T (p.Arg717Trp) | Missense | <0.01% | Located in cytoplasmic tail; functional significance unknown |
| c.1234A>G (p.Asn412Asp) | Missense | <0.01% | Extracellular domain; may affect homophilic binding |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in PECAM1 impair leukocyte transmigration and increase vascular permeability, as observed in knockout models.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression in tumors may enhance angiogenesis.
Dominant Negative (DN)
Dominant-negative effects have been proposed for certain missense variants that disrupt homophilic adhesion while retaining surface expression.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Leukocyte transendothelial migration (KEGG: hsa04670)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
• VEGF signaling pathway (KEGG: hsa04370)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
PECAM1 (CD31) is a 738-amino-acid transmembrane glycoprotein with six extracellular immunoglobulin-like domains, a single transmembrane segment, and a cytoplasmic tail containing two ITIM motifs. It is highly expressed on endothelial cells, platelets, and leukocytes. The protein mediates homophilic adhesion between endothelial cells and heterophilic adhesion with integrins (e.g., αvβ3). Its ITIMs recruit phosphatases such as SHP-2, modulating signals for cell migration, survival, and barrier function. PECAM1 is essential for angiogenesis, platelet aggregation, and immune cell trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PECAM1 Knockout HEK293 Cell Line | EDJ-KQ2831 | Human | 5175 | Details Get a Quote |
| PECAM1 Knockout HeLa Cell Line | EDJ-KQ54115 | Human | 5175 | Details Get a Quote |
| PECAM1 Knockout A-549 Cell Line | EDJ-KQ62603 | Human | 5175 | Details Get a Quote |
| PECAM1 Knockout HCT 116 Cell Line | EDJ-KQ71077 | Human | 5175 | Details Get a Quote |
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