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25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MFGE8
milk fat globule EGF and factor V/VIII domain containing
Chromosome 15 · 15q26.1
NCBI Gene: 4240Ensembl: ENSG00000140545.16HGNC: HGNC:7036UniProt: A0A8Q3SIZ9
166PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membranephosphatidylserine bindingextracellular vesicleextracellular matrixAL amyloidosisangina pectorisMyocardial Ischemiacoronary atherosclerosis
✦AI Summary

MFGE8 (Milk Fat Globule-EGF Factor 8) is a secreted glycoprotein that functions as a critical regulator of cellular interactions and tissue homeostasis through multiple mechanisms. The protein serves as a phagocytic modulator, facilitating efferocytosis (clearance of apoptotic cells) by binding to phosphatidylserine on dying cells and bridging them to phagocytes via integrin receptors 1. In the central nervous system, astrocyte-derived MFGE8 promotes microglial synapse elimination in Alzheimer's disease, contributing to pathological synapse loss 23. The protein demonstrates tissue-protective properties in some contexts, preventing intestinal fibrosis by inhibiting extracellular matrix production through integrin αvβ5 and focal adhesion kinase signaling 4. However, MFGE8 also exhibits pathological roles, acting as a metastatic trophic factor secreted by vertebral skeletal stem cells that contributes to bone metastasis 5. Additionally, MFGE8 promotes immunotherapy resistance by enhancing PD-L1 sorting onto tumor-derived extracellular vesicles through αv integrin signaling and UBE4A upregulation 6. The protein shows therapeutic potential, as MFGE8-containing nanoparticles can transform macrophages from pro-inflammatory to anti-inflammatory phenotypes in liver fibrosis treatment 7. Genetic studies identify MFGE8 as a potential therapeutic target for sarcopenia, where upregulation correlates with improved muscle mass 8.

Sources cited
1
MFGE8 prevents intestinal fibrosis by inhibiting ECM production through integrin αvβ5 and focal adhesion kinase signaling
PMID: 38378253
2
MFGE8 upregulation is associated with improved muscle mass and represents a potential therapeutic target for sarcopenia
PMID: 38644354
3
Vertebral skeletal stem cells secrete MFGE8 as a metastatic trophic factor contributing to bone metastasis
PMID: 37704733
4
MFGE8 in extracellular vesicles facilitates macrophage efferocytosis via αvβ3-Src-FAK-STAT3 signaling
PMID: 38802814
5
MFGE8 promotes increased synapse ingestion by human astrocytes and microglia in Alzheimer's disease
PMID: 37652017
6
MFGE8 promotes anti-PD-1 therapy resistance by enhancing PD-L1 sorting onto extracellular vesicles through αv integrin signaling
PMID: 39842432
7
MFGE8-containing nanoparticles transform macrophages from M1 to M2 phenotype in liver fibrosis treatment
PMID: 38064164
8
Astrocyte-derived MFGE8 facilitates microglial synapse elimination in Alzheimer's disease mouse models
PMID: 39257734
Disease Associationsⓘ20
AL amyloidosisOpen Targets
0.46Moderate
angina pectorisOpen Targets
0.36Weak
Myocardial IschemiaOpen Targets
0.34Weak
coronary atherosclerosisOpen Targets
0.33Weak
intermediate coronary syndromeOpen Targets
0.33Weak
coronary artery bypassOpen Targets
0.33Weak
diabetic ketoacidosisOpen Targets
0.33Weak
gastroparesisOpen Targets
0.26Weak
schizophreniaOpen Targets
0.23Weak
cardiovascular diseaseOpen Targets
0.13Weak
myocardial infarctionOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
percutaneous transluminal coronary angioplastyOpen Targets
0.11Weak
coronary artery diseaseOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
acute myocardial infarctionOpen Targets
0.08Suggestive
systemic lupus erythematosusOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TIMD4Shared pathway100%ITGB3Protein interaction100%MUC1Protein interaction99%GAS6Protein interaction99%ITGB5Protein interaction99%BTN3A1Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Ovary
47%
Lung
36%
Brain
6%
Liver
3%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
MFGE8TIMD4ITGB3MUC1GAS6ITGB5BTN3A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q08431
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.60–1.04]
RankingsWhere MFGE8 stands among ~20K protein-coding genes
  • #2,692of 20,598
    Most Researched166 · top quartile
  • #10,425of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedMFGE8
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Milk fat globule-epidermal growth factor 8 (MFGE8) prevents intestinal fibrosis.
PMID: 38378253
Gut · 2024
1.00
2
Systematic druggable genome-wide Mendelian randomization identifies therapeutic targets for sarcopenia.
PMID: 38644354
J Cachexia Sarcopenia Muscle · 2024
0.90
3
A vertebral skeletal stem cell lineage driving metastasis.
PMID: 37704733
Nature · 2023
0.80
4
Extracellular vesicles containing MFGE8 from colorectal cancer facilitate macrophage efferocytosis.
PMID: 38802814
Cell Commun Signal · 2024
0.70
5
Targeted delivery of neural progenitor cell-derived extracellular vesicles for anti-inflammation after cerebral ischemia.
PMID: 33995671
Theranostics · 2021
0.68