ESM1 (Endothelial Cell Specific Molecule 1)
A biomarker for angiogenesis and endothelial dysfunction
Gene Information Card
| Symbol | ESM1 |
|---|---|
| Full Name | Endothelial Cell Specific Molecule 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 11082 ncbi.nlm.nih.gov/gene/11082 |
| Ensembl ID | ENSG00000164283 |
| UniProt ID | Q9NQ30 |
| OMIM ID | 601521 |
| HGNC ID | 3466 |
| Aliases | endocan |
Description
ESM1 (Endothelial Cell Specific Molecule 1), also known as endocan, is a soluble dermatan sulfate proteoglycan secreted by endothelial cells. It plays a role in angiogenesis, cell adhesion, and inflammation. ESM1 expression is upregulated in various cancers and inflammatory conditions, making it a potential biomarker for disease progression and vascular dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | ESM1 promotes tumor angiogenesis and metastasis via VEGF and FGF signaling pathways. | PMID: 25636849; COSMIC |
| Sepsis | Elevated ESM1 levels correlate with endothelial barrier disruption and organ failure. | PMID: 16940118; ClinVar |
| Psoriasis | ESM1 is overexpressed in psoriatic skin lesions and contributes to abnormal angiogenesis. | PMID: 21850019 |
| Diabetic retinopathy | Increased ESM1 expression in retinal endothelial cells promotes neovascularization. | PMID: 23555865 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Liver | 6.1 | Low |
| Heart | 4.7 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 45.2 | High expression; primary endothelial cells |
| A549 (lung carcinoma) | 3.8 | Low expression |
| HeLa (cervical carcinoma) | 1.5 | Not detected |
| MCF7 (breast carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Potential loss of start codon; functional impact unknown |
| c.374C>T (p.Thr125Met) | missense | 0.2% | Rare variant; no known disease association |
| c.538G>A (p.Gly180Arg) | missense | 0.05% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ESM1.
Gain of Function (GOF)
Overexpression of wild-type ESM1 is associated with tumor progression; no activating mutations described.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • angiogenesis (GO:0001525) | • cell adhesion (GO:0007155) |
| • extracellular region (GO:0005576) | • extracellular matrix organization (GO:0030198) |
| • extracellular space (GO:0005615) |
Pathways
• VEGF signaling pathway (Reactome: R-HSA-194138)
• FGF signaling pathway (Reactome: R-HSA-190236)
• Endothelial cell migration (Reactome: R-HSA-2022090)
Protein Summary
Endocan (ESM1) is a 50 kDa secreted proteoglycan composed of a core protein and a single dermatan sulfate chain. It is specifically expressed by endothelial cells and modulates growth factor signaling, particularly VEGF and FGF. Endocan binds to integrins and promotes cell adhesion, migration, and tube formation. Its expression is induced by inflammatory cytokines (e.g., TNF-α, IL-1β) and is elevated in the serum of patients with cancer, sepsis, and vascular disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESM1 Knockout HEK293 Cell Line | EDJ-KQ7276 | Human | 11082 | Details Get a Quote |
| ESM1 Knockout HeLa Cell Line | EDJ-KQ55565 | Human | 11082 | Details Get a Quote |
| ESM1 Knockout A-549 Cell Line | EDJ-KQ64060 | Human | 11082 | Details Get a Quote |
| ESM1 Knockout HCT 116 Cell Line | EDJ-KQ72511 | Human | 11082 | Details Get a Quote |
