EDIL3 (EGF Like Repeats And Discoidin I Like Domains 3)
A Multifunctional Extracellular Matrix Protein in Angiogenesis and Cancer
Gene Information Card
| Symbol | EDIL3 |
|---|---|
| Full Name | EGF Like Repeats And Discoidin I Like Domains 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q14.3 |
| NCBI Gene ID | 10085 ncbi.nlm.nih.gov/gene/10085 |
| Ensembl ID | ENSG00000164176 |
| UniProt ID | O43854 |
| OMIM ID | 606018 |
| HGNC ID | 3173 |
| Aliases | DEL1, MGC29643 |
Description
EDIL3 encodes a secreted extracellular matrix protein containing EGF-like repeats and discoidin I-like domains. It functions in cell adhesion, migration, and angiogenesis, particularly during vascular development. EDIL3 is also implicated in tumor progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | EDIL3 promotes angiogenesis and tumor growth via integrin binding and VEGF pathway activation. | COSMIC; PMID: 25792728 |
| Alzheimer's disease | EDIL3 is upregulated in brain microvessels and may contribute to amyloid-beta clearance. | PMID: 20628055 |
| Rheumatoid arthritis | EDIL3 is expressed in synovial tissue and may modulate inflammation and angiogenesis. | PMID: 20015375 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Lung | 8.7 | Low |
| Liver | 5.2 | Low |
| Kidney | 15.1 | Medium |
| Brain | 6.4 | Low |
| Placenta | 45.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 68.5 | High expression in endothelial cells |
| MCF7 | 3.2 | Low expression in breast cancer cell line |
| A549 | 2.1 | Low expression in lung cancer cell line |
| HEK293 | 1.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A | missense | <0.1% | Unknown functional impact |
| c.567C>T | synonymous | <0.1% | No effect on protein |
| c.890_891insA | frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.890_891insA) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in EDIL3.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway
• VEGF signaling pathway
• Focal adhesion
Protein Summary
EDIL3 (also known as DEL1) is a 480-amino acid secreted glycoprotein with three EGF-like domains and two discoidin I-like domains. It binds integrins αvβ3 and αvβ5, promoting endothelial cell adhesion and migration. The protein is highly expressed in embryonic tissues and placenta, and its expression is reactivated in various cancers, where it supports tumor angiogenesis and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDIL3 Knockout HEK293 Cell Line | EDJ-KQ6891 | Human | 10085 | Details Get a Quote |
| EDIL3 Knockout HeLa Cell Line | EDJ-KQ31500 | Human | 10085 | Details Get a Quote |
| EDIL3 Knockout A-549 Cell Line | EDJ-KQ63795 | Human | 10085 | Details Get a Quote |
| EDIL3 Knockout HCT 116 Cell Line | EDJ-KQ72254 | Human | 10085 | Details Get a Quote |
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