MEGF10: Multiple EGF-like Domains 10
A key regulator of myogenesis and satellite cell function
Gene Information Card
| Symbol | MEGF10 |
|---|---|
| Full Name | Multiple EGF-like domains 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q23.2 |
| NCBI Gene ID | 84466 ncbi.nlm.nih.gov/gene/84466 |
| Ensembl ID | ENSG00000145782 |
| UniProt ID | Q96KG7 |
| OMIM ID | 612453 |
| HGNC ID | 29634 |
| Aliases | FLJ14490, MEGF10, MEGF10_HUMAN |
Description
MEGF10 encodes a transmembrane protein containing multiple epidermal growth factor (EGF)-like domains. It functions as a receptor involved in phagocytosis of apoptotic cells and is critical for myoblast fusion and satellite cell maintenance during skeletal muscle regeneration. Mutations in MEGF10 cause early-onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Early-Onset Myopathy with Areflexia, Respiratory Distress, and Dysphagia (EMARDD) | Loss-of-function mutations impair satellite cell function and myoblast fusion, leading to muscle weakness and respiratory failure. | ClinVar, OMIM |
| Myopathy, congenital, with areflexia and respiratory distress | Homozygous or compound heterozygous mutations in MEGF10 disrupt muscle development. | OMIM #614399 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 6.8 | Low |
| Brain | 3.2 | Low |
| Lung | 1.5 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 15.2 | High expression |
| Fibroblasts | 2.1 | Low expression |
| HEK 293 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2332C>T (p.Arg778*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.2860G>A (p.Gly954Arg) | Missense | Rare | Impaired protein function |
| c.3619C>T (p.Arg1207*) | Nonsense | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, causing EMARDD.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • scavenger receptor activity (GO:0005044) | • phagocytosis (GO:0006911) |
| • myoblast fusion (GO:0007520) | • myotube cell development (GO:0014904) |
| • cell differentiation (GO:0030154) |
Pathways
• Phagocytosis of apoptotic cells
• Myogenesis and satellite cell differentiation
Protein Summary
MEGF10 is a 1209-amino acid transmembrane protein with 16 EGF-like domains and a cytoplasmic domain. It acts as a receptor for apoptotic cells and is essential for myoblast fusion and muscle regeneration. The protein is predominantly expressed in skeletal muscle and is involved in cell-cell adhesion and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEGF10 Knockout HEK293 Cell Line | EDJ-KQ10099 | Human | 84466 | Details Get a Quote |
| MEGF10 Knockout HeLa Cell Line | EDJ-KQ57600 | Human | 84466 | Details Get a Quote |
| MEGF10 Knockout A-549 Cell Line | EDJ-KQ66097 | Human | 84466 | Details Get a Quote |
| MEGF10 Knockout HCT 116 Cell Line | EDJ-KQ74518 | Human | 84466 | Details Get a Quote |
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