ESAM
Endothelial Cell Adhesion Molecule
Gene Information Card
| Symbol | ESAM |
|---|---|
| Full Name | Endothelial Cell Adhesion Molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 90952 ncbi.nlm.nih.gov/gene/90952 |
| Ensembl ID | ENSG00000149564 |
| UniProt ID | Q96AP7 |
| OMIM ID | 614936 |
| HGNC ID | 16174 |
| Aliases | 2310008H09Rik, WU:FB15C04, esam1 |
Description
ESAM (Endothelial Cell Adhesion Molecule) encodes a member of the immunoglobulin superfamily. The protein is a transmembrane adhesion molecule specifically expressed at endothelial cell tight junctions, playing a role in vascular permeability, leukocyte transmigration, and angiogenesis. It is involved in the regulation of endothelial barrier function and may contribute to tumor angiogenesis and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | ESAM overexpression promotes tumor angiogenesis and metastasis via endothelial cell adhesion and migration. | NCBI Gene, COSMIC |
| Breast Cancer | Altered ESAM expression correlates with poor prognosis; involved in tumor vascularization. | COSMIC, PubMed |
| Inflammatory Bowel Disease | ESAM dysfunction disrupts endothelial barrier, increasing intestinal vascular permeability. | OMIM, ClinVar |
| Atherosclerosis | ESAM mediates monocyte adhesion to endothelium, contributing to plaque formation. | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 10.3 | Medium |
| Kidney | 8.7 | Medium |
| Liver | 4.2 | Low |
| Brain | 1.8 | Low |
| Spleen | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 45.2 | High expression in endothelial cells |
| A549 | 3.1 | Low expression |
| MCF7 | 2.5 | Low expression |
| HEK293 | 1.9 | Low expression |
| THP-1 | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown; predicted benign |
| c.1024C>T (p.Arg342Trp) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.1345_1346insA | Frameshift | <0.01% | Loss of function; truncated protein |
| c.78+1G>T | Splice donor | <0.01% | Splice disruption; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and splice site mutations lead to truncated or absent protein, impairing endothelial adhesion and barrier function.
Gain of Function (GOF)
No gain-of-function mutations reported in ESAM.
Dominant Negative (DN)
No dominant-negative mutations reported in ESAM.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0007157) |
| • cell-cell junction (GO:0005911) | • protein binding (GO:0005515) |
Pathways
• Cell adhesion molecules (CAMs) - Homo sapiens (human) - KEGG: hsa04514
• Adherens junction - Homo sapiens (human) - KEGG: hsa04520
• Leukocyte transendothelial migration - Homo sapiens (human) - KEGG: hsa04670
Protein Summary
The ESAM protein is a 55 kDa transmembrane glycoprotein belonging to the immunoglobulin superfamily. It contains two extracellular Ig-like domains, a transmembrane region, and a cytoplasmic tail with PDZ-binding motifs. ESAM localizes to endothelial tight junctions and mediates homophilic and heterophilic cell-cell adhesion. It regulates vascular permeability, leukocyte diapedesis, and angiogenesis. The protein is essential for maintaining endothelial barrier integrity and is implicated in tumor vascularization and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESAM Knockout HEK293 Cell Line | EDJ-KQ10677 | Human | 90952 | Details Get a Quote |
| ESAM Knockout A-549 Cell Line | EDJ-KQ38207 | Human | 90952 | Details Get a Quote |
| ESAM Knockout HCT 116 Cell Line | EDJ-KQ38208 | Human | 90952 | Details Get a Quote |
| ESAM Knockout HeLa Cell Line | EDJ-KQ57789 | Human | 90952 | Details Get a Quote |
