EGFL7: EGF Like Domain Multiple 7
A secreted angiogenic factor involved in vascular development and tumorigenesis
Gene Information Card
| Symbol | EGFL7 |
|---|---|
| Full Name | EGF like domain multiple 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 51162 ncbi.nlm.nih.gov/gene/51162 |
| Ensembl ID | ENSG00000107186 |
| UniProt ID | Q9UHF1 |
| OMIM ID | 608582 |
| HGNC ID | 3231 |
| Aliases | VE-STATIN, MEGF7, RP11-251M1.1 |
Description
EGFL7 (EGF like domain multiple 7) encodes a secreted protein containing multiple epidermal growth factor (EGF)-like domains. It is primarily expressed in endothelial cells and plays a critical role in vascular development, angiogenesis, and vascular tube formation. EGFL7 modulates Notch signaling and is implicated in tumor growth and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | EGFL7 overexpression promotes tumor angiogenesis and metastasis via Notch pathway modulation | COSMIC, PubMed |
| Vascular malformations | Dysregulation of EGFL7 disrupts endothelial cell migration and tube formation | OMIM, PubMed |
| Cardiovascular disease | Altered EGFL7 expression affects vascular integrity and repair | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 8.3 | Low |
| Placenta | 15.2 | Medium |
| Kidney | 6.1 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 18.7 | High expression |
| A549 (lung carcinoma) | 2.1 | Low expression |
| MCF7 (breast carcinoma) | 1.5 | Low expression |
| HeLa (cervical carcinoma) | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487G>A (p.Gly163Arg) | Missense | <0.1% | Unknown |
| c.1021C>T (p.Arg341Trp) | Missense | <0.1% | Unknown |
| c.1246_1247insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1246_1247insA) predicted to truncate the protein and impair secretion or Notch binding.
Gain of Function (GOF)
Not well characterized; overexpression in tumors suggests potential gain-of-function in angiogenesis.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (Reactome: R-HSA-157118)
• VEGF signaling pathway (KEGG: hsa04370)
• Angiogenesis (WikiPathways: WP1539)
Protein Summary
EGFL7 is a secreted 30-35 kDa glycoprotein with multiple EGF-like domains. It localizes to the extracellular matrix and promotes endothelial cell adhesion, migration, and tube formation. EGFL7 binds to Notch receptors and modulates Notch signaling, thereby regulating vascular development and tumor angiogenesis. It is overexpressed in several cancers and is considered a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EGFL7 Knockout HEK293 Cell Line | EDJ-KQ10955 | Human | 51162 | Details Get a Quote |
| EGFL7 Knockout A-549 Cell Line | EDJ-KQ37451 | Human | 51162 | Details Get a Quote |
| EGFL7 Knockout HCT 116 Cell Line | EDJ-KQ38755 | Human | 51162 | Details Get a Quote |
| EGFL7 Knockout HeLa Cell Line | EDJ-KQ38756 | Human | 51162 | Details Get a Quote |
