MFGE8 (Milk Fat Globule-EGF Factor 8 Protein)
A secreted glycoprotein involved in phagocytosis, angiogenesis, and cell adhesion, with roles in cancer and neurodegenerative diseases.
Gene Information Card
| Symbol | MFGE8 |
|---|---|
| Full Name | Milk Fat Globule-EGF Factor 8 Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 4240 ncbi.nlm.nih.gov/gene/4240 |
| Ensembl ID | ENSG00000140545 |
| UniProt ID | Q08431 |
| OMIM ID | 602423 |
| HGNC ID | 7036 |
| Aliases | MFG-E8, lactadherin, SED1, BA46, hP47, OAcGD3S |
Description
MFGE8 encodes a secreted glycoprotein that contains two N-terminal EGF-like domains and two C-terminal discoidin/F5/8 type C domains. It functions as a bridging molecule between phosphatidylserine on apoptotic cells and integrins on phagocytes, promoting efferocytosis. It also plays roles in angiogenesis, cell adhesion, and tissue remodeling. Alternative splicing generates multiple isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | MFGE8 facilitates clearance of amyloid-beta; reduced expression may impair phagocytosis and contribute to plaque accumulation. | PMID: 20018657 |
| Breast cancer | MFGE8 is overexpressed in some breast cancers and promotes tumor growth and metastasis via integrin-mediated signaling. | PMID: 22238358 |
| Systemic lupus erythematosus | Defective MFGE8-mediated clearance of apoptotic cells may contribute to autoantigen exposure and autoimmunity. | PMID: 15100218 |
| Age-related macular degeneration | MFGE8 is involved in retinal pigment epithelium phagocytosis of shed photoreceptor outer segments; dysregulation may contribute to AMD. | PMID: 17537983 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 | Medium |
| Adipose tissue | 8.2 | Low |
| Brain | 1.3 | Not detected |
| Liver | 0.5 | Not detected |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.8 | High expression |
| HepG2 (liver cancer) | 2.1 | Low expression |
| SH-SY5Y (neuroblastoma) | 0.8 | Not detected |
| THP-1 (monocyte) | 6.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.482C>T (p.Thr161Ile) | missense | <0.01% | Rare variant; no known disease association |
| c.1045G>A (p.Gly349Arg) | missense | <0.01% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in human disease; knockout mice show impaired efferocytosis.
Gain of Function (GOF)
Overexpression in certain cancers suggests potential gain-of-function in tumor progression.
Dominant Negative (DN)
Not described for MFGE8.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phagocytosis (R-HSA-2029480)
• Integrin signaling (R-HSA-354192)
• Angiogenesis (R-HSA-194315)
Protein Summary
MFGE8 (lactadherin) is a 387-amino-acid secreted glycoprotein with two EGF-like domains (the second containing an RGD integrin-binding motif) and two discoidin domains. It binds phosphatidylserine on apoptotic cells and integrins (αvβ3/αvβ5) on phagocytes, bridging efferocytosis. It also promotes angiogenesis and cell adhesion. The protein is highly expressed in mammary gland, adipose tissue, and certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MFGE8 Knockout HEK293 Cell Line | EDJ-KQ1889 | Human | 4240 | Details Get a Quote |
| MFGE8 Knockout A-549 Cell Line | EDJ-KQ21785 | Human | 4240 | Details Get a Quote |
| MFGE8 Knockout HCT 116 Cell Line | EDJ-KQ21786 | Human | 4240 | Details Get a Quote |
| MFGE8 Knockout HeLa Cell Line | EDJ-KQ21787 | Human | 4240 | Details Get a Quote |
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