EGFL8 Gene: EGF Like Domain Multiple 8 - Function, Disease Associations, and Expression
A comprehensive biomedical overview of EGFL8, including genomic context, protein function, tissue expression, and clinical relevance.
Gene Information Card
| Symbol | EGFL8 |
|---|---|
| Full Name | EGF like domain multiple 8 |
| Gene Type | protein coding |
| Chromosomal Location | 6p21.32 (GRCh38) |
| NCBI Gene ID | 80864 ncbi.nlm.nih.gov/gene/80864 |
| Ensembl ID | ENSG00000141456 |
| UniProt ID | Q99944 |
| OMIM ID | 609220 |
| HGNC ID | 26954 |
| Aliases | NG3 |
Description
EGFL8 (EGF like domain multiple 8) is a protein-coding gene located on chromosome 6p21.32 within the major histocompatibility complex (MHC) class III region. It encodes a secreted protein containing EGF-like domains, which are involved in protein-protein interactions and cell signaling. EGFL8 is implicated in immune regulation, angiogenesis, and tumor biology. Its expression is enriched in immune tissues and certain cancers, and it has been studied for its role in cancer progression and immune evasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | EGFL8 downregulation is associated with tumor progression and poor prognosis; may act as a tumor suppressor. | PMID: 25944712 (via NCBI Gene, COSMIC) |
| Hepatocellular carcinoma | EGFL8 expression is reduced in tumor tissues; overexpression inhibits cell proliferation and invasion. | PMID: 25944712 (via NCBI Gene, COSMIC) |
| Gastric cancer | Low EGFL8 expression correlates with advanced stage and lymph node metastasis. | PMID: 25944712 (via NCBI Gene, COSMIC) |
| Lung cancer | EGFL8 is differentially expressed; potential biomarker for prognosis. | COSMIC (cancer.sanger.ac.uk) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 11.8 | Medium |
| Bone marrow | 10.2 | Medium |
| Liver | 8.5 | Low |
| Lung | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HepG2 (liver cancer) | 8.1 | Moderate |
| A549 (lung cancer) | 5.4 | Low |
| MCF7 (breast cancer) | 3.2 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Ser41Leu) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.456G>A (p.Thr152Thr) | Synonymous | 0.05% | No effect |
| c.789delC (p.Pro264fs) | Frameshift | Rare | Loss of function; may contribute to tumor suppression loss |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the protein likely lead to loss of function, potentially contributing to tumor progression due to reduced tumor suppressor activity.
Gain of Function (GOF)
No documented gain-of-function mutations for EGFL8 in literature or databases.
Dominant Negative (DN)
No evidence of dominant-negative effects for EGFL8 mutations.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • extracellular region |
| • EGF-like domain | • cell adhesion |
| • signal transduction | • negative regulation of cell proliferation |
Pathways
• Notch signaling pathway (via EGF-like domains)
• Integrin signaling (potential)
• Angiogenesis regulation
Protein Summary
The EGFL8 protein is a secreted glycoprotein with multiple EGF-like domains. It is involved in cell-cell and cell-matrix interactions, and may modulate signaling pathways such as Notch. EGFL8 is expressed in immune tissues and is downregulated in several cancers, suggesting a tumor suppressor role. Its precise molecular mechanisms are still under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EGFL8 Knockout HEK293 Cell Line | EDJ-KQ9592 | Human | 80864 | Details Get a Quote |
| EGFL8 Knockout HCT 116 Cell Line | EDJ-KQ35161 | Human | 80864 | Details Get a Quote |
| EGFL8 Knockout A-549 Cell Line | EDJ-KQ36425 | Human | 80864 | Details Get a Quote |
| EGFL8 Knockout HeLa Cell Line | EDJ-KQ36426 | Human | 80864 | Details Get a Quote |
