EMCN (Endomucin)
Endothelial cell-specific mucin-like glycoprotein involved in angiogenesis and vascular integrity
Gene Information Card
| Symbol | EMCN |
|---|---|
| Full Name | Endomucin |
| Gene Type | protein-coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 51705 ncbi.nlm.nih.gov/gene/51705 |
| Ensembl ID | ENSG00000164035 |
| UniProt ID | Q9ULC0 |
| OMIM ID | 608555 |
| HGNC ID | 16041 |
| Aliases | MUC14, endomucin-2 |
Description
EMCN encodes endomucin, a type I transmembrane glycoprotein predominantly expressed on endothelial cells. It contains a mucin-like domain and plays a critical role in angiogenesis, vascular permeability, and leukocyte adhesion. Endomucin modulates VEGFR2 signaling and is involved in tumor vascularization and inflammatory responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered EMCN expression affects tumor angiogenesis and metastasis | COSMIC, NCBI Gene |
| Inflammatory vascular disease | Endomucin regulates leukocyte adhesion and vascular permeability | UniProt, PubMed |
| Diabetic retinopathy | Dysregulated endomucin contributes to retinal neovascularization | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Liver | 6.1 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 15.2 | High expression; model for endothelial function |
| HMEC-1 (microvascular endothelial) | 14.0 | High expression |
| A549 (lung carcinoma) | 2.1 | Low expression |
| HeLa (cervical carcinoma) | 1.5 | 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; rare variant |
| c.1024C>T (p.Arg342Trp) | Missense | <0.01% | Unknown; rare variant |
| c.1235_1236insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated protein and loss of endothelial function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • angiogenesis | • cell adhesion |
| • vascular endothelial growth factor receptor signaling pathway | • extracellular exosome |
| • integral component of membrane | • mucin-type O-glycan biosynthesis |
Pathways
• VEGF signaling pathway
• Endothelial cell migration and angiogenesis
Protein Summary
Endomucin is a 261-amino acid transmembrane protein with a heavily O-glycosylated extracellular mucin domain. It is expressed on the luminal surface of endothelial cells and interacts with integrins and VEGFR2 to regulate angiogenesis, vascular barrier function, and leukocyte trafficking. Post-translational modifications include glycosylation and phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMCN Knockout HEK293 Cell Line | EDJ-KQ10516 | Human | 51705 | Details Get a Quote |
| EMCN Knockout HeLa Cell Line | EDJ-KQ56350 | Human | 51705 | Details Get a Quote |
| EMCN Knockout A-549 Cell Line | EDJ-KQ64839 | Human | 51705 | Details Get a Quote |
| EMCN Knockout HCT 116 Cell Line | EDJ-KQ73284 | Human | 51705 | Details Get a Quote |
