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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MEGF10
multiple EGF like domains 10
Chromosome 5 Β· 5q23.2
NCBI Gene: 84466Ensembl: ENSG00000145794.17HGNC: HGNC:29634UniProt: Q96KG7
37PubMed Papers
22Diseases
0Drugs
62Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of myoblast proliferationphagocytic cupplasma membraneregulation of skeletal muscle tissue developmentMEGF10-related myopathySpinal muscular atrophy with respiratory distress type 1Abnormality of the skeletal systemcongenital myopathy 10b, mild variant
✦AI Summary

MEGF10 is a membrane receptor with dual roles in immune clearance and muscle development. As a phagocytic receptor, MEGF10 mediates engulfment of apoptotic cells by macrophages and astrocytes through C1q binding and phosphatidylserine recognition 1. MEGF10 cooperates with ABCA1 in apoptotic cell clearance and promotes formation of intracellular vacuoles for amyloid-beta uptake 23. In the nervous system, MEGF10-mediated astrocytic phagocytosis is necessary for developing cerebellar neuron clearance and, in pathological contexts, synapse elimination after stroke 14. Notably, Sox9-regulated MEGF10 expression in astrocytes promotes amyloid-beta plaque clearance in Alzheimer's disease models 5. In skeletal muscle, MEGF10 regulates satellite cell proliferation and differentiation balance through Notch signaling control, essential for myogenesis 6. The cytosolic domain of MEGF10 independently triggers phagocytosis when incorporated into chimeric antigen receptors, demonstrating functional sufficiency for engulfment 78. Loss-of-function mutations cause early-onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD), characterized by progressive muscle weakness, feeding difficulties, and respiratory involvement with variable severity depending on mutation type 910.

Sources cited
1
As a phagocytic receptor, MEGF10 mediates engulfment of apoptotic cells by macrophages and astrocytes through C1q binding and phosphatidylserine recognition .
PMID: 27170117
2
Notably, Sox9-regulated MEGF10 expression in astrocytes promotes amyloid-beta plaque clearance in Alzheimer's disease models .
PMID: 41272323
3
In skeletal muscle, MEGF10 regulates satellite cell proliferation and differentiation balance through Notch signaling control, essential for myogenesis .
PMID: 28498977
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
MEGF10-related myopathyOpen Targets
0.79Strong
Spinal muscular atrophy with respiratory distress type 1Open Targets
0.63Moderate
Abnormality of the skeletal systemOpen Targets
0.55Moderate
congenital myopathy 10b, mild variantOpen Targets
0.52Moderate
smoking initiationOpen Targets
0.35Weak
prostatitisOpen Targets
0.25Weak
spermatoceleOpen Targets
0.24Weak
placenta praeviaOpen Targets
0.24Weak
response to antipsychotic drugOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
gestational diabetesOpen Targets
0.18Weak
spontaneous abortionOpen Targets
0.14Weak
HepatitisOpen Targets
0.11Weak
neuroblastomaOpen Targets
0.07Suggestive
gliomaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
autismOpen Targets
0.03Suggestive
strokeOpen Targets
0.03Suggestive
cervical carcinomaOpen Targets
0.03Suggestive
Congenital myopathy 10A, severe variantUniProt
Congenital myopathy 10B, mild variantUniProt
Pathogenic Variants62
NM_001256545.2(MEGF10):c.2104+1G>TLikely pathogenic
not provided|MEGF10-related myopathy
β˜…β˜…β˜†β˜†2025
NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg)Pathogenic
Congenital myopathy 10b, mild variant|MEGF10-related myopathy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 774
NM_001256545.2(MEGF10):c.1192G>T (p.Glu398Ter)Pathogenic
not provided|MEGF10-related myopathy
β˜…β˜…β˜†β˜†2022β†’ Residue 398
NM_001256545.2(MEGF10):c.44T>A (p.Leu15Ter)Pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2025β†’ Residue 15
NM_001256545.2(MEGF10):c.241C>T (p.Arg81Ter)Pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2025β†’ Residue 81
NM_001256545.2(MEGF10):c.2491+1G>ALikely pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2025
NM_001256545.2(MEGF10):c.3132dup (p.Glu1045fs)Likely pathogenic
Congenital myopathy 10b, mild variant
β˜…β˜†β˜†β˜†2025β†’ Residue 1045
NM_001256545.2(MEGF10):c.2857-2A>CLikely pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2025
NM_001256545.2(MEGF10):c.1069G>T (p.Glu357Ter)Pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2025β†’ Residue 357
NM_001256545.2(MEGF10):c.2530C>T (p.Arg844Ter)Pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2025β†’ Residue 844
NM_001256545.2(MEGF10):c.2007_2008del (p.Ala670fs)Likely pathogenic
MEGF10-related disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 670
NM_001256545.2(MEGF10):c.481_659+98delLikely pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2024
NM_001256545.2(MEGF10):c.1557del (p.Trp520fs)Likely pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 520
NM_001256545.2(MEGF10):c.3158C>A (p.Ser1053Ter)Pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 1053
NM_001256545.2(MEGF10):c.319+1G>ALikely pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2024
NM_001256545.2(MEGF10):c.24C>A (p.Cys8Ter)Pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 8
NM_001256545.2(MEGF10):c.1840+1G>ALikely pathogenic
Congenital myopathy 10b, mild variant
β˜…β˜†β˜†β˜†2024
NM_001256545.2(MEGF10):c.2233+758C>TLikely pathogenic
Congenital myopathy 10b, mild variant
β˜…β˜†β˜†β˜†2024
NM_001256545.2(MEGF10):c.3094del (p.Thr1032fs)Pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 1032
NM_001256545.2(MEGF10):c.815del (p.Arg272fs)Pathogenic
MEGF10-related myopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 272
View on ClinVar β†—
Related Genes
GULP1Protein interaction86%IFT122Protein interaction86%CCDC136Protein interaction83%AP2M1Protein interaction81%MERTKProtein interaction80%SELENONCo-mentioned in literature30%
Tissue Expression6 tissues
Brain
100%
Heart
3%
Liver
2%
Ovary
1%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MEGF10GULP1IFT122CCDC136AP2M1MERTKSELENON
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96KG7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.58 [0.48–0.71]
RankingsWhere MEGF10 stands among ~20K protein-coding genes
  • #10,650of 20,598
    Most Researched37
  • #1,149of 5,498
    Most Pathogenic Variants62 Β· top quartile
  • #5,413of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedMEGF10
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Chimeric antigen receptors that trigger phagocytosis.
PMID: 29862966
Elife Β· 2018
1.00
2
Stroke subtype-dependent synapse elimination by reactive gliosis in mice.
PMID: 34836962
Nat Commun Β· 2021
0.90
3
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.80
4
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
PMID: 35302338
Eur J Transl Myol Β· 2022
0.70
5
Astrocytic Sox9 overexpression in Alzheimer's disease mouse models promotes AΞ² plaque phagocytosis and preserves cognitive function.
PMID: 41272323
Nat Neurosci Β· 2026
0.60