MEGF10 Gene Summary [Human]
This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
Details
| Type | Protein Coding |
| Official Symbol | MEGF10 |
| Official Name | multiple EGF like domains 10 [Source:HGNC Symbol;Acc:HGNC:29634] |
| Ensembl ID | ENSG00000145794 |
| Bio databases IDs | |
| Aliases | multiple EGF like domains 10 |
| Synonyms | 3000002B06RIK, CMYO10A, CMYO10B, CMYP10A, CMYP10B, EMARDD, Gm331, LOC102723571, multiple EGF-like-domains 10, SR-F3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MEGF10 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- Laminin-type epidermal growth factor-like domai
- binding protein
- scavenger receptor
- intracellular domain
- EMI domain
- protein binding
- transmembrane receptor
- notch binding
- Laminin EGF domain
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- psoriasis
- early-onset myopathy, areflexia, respiratory distress, and dysphagia, mild variant
- neurobehavioral deficit
- Alzheimer disease
- early-onset myopathy, areflexia, respiratory distress, and dysphagia
- brain damage
- MEGF10-related myopathy
- rectum cancer
- oral squamous cell carcinoma
- squamous cell cancer of the oral cavity
regulates
- MEGF10
- C1Q
role in cell
- proliferation
- migration
- activation
- autophagy in
- differentiation
- development
- phagocytosis
- number
- engulfment
- phagocytosis by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- phagocytic cups
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MEGF10 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle cell development
- positive regulation of cell-cell adhesion
- apoptotic cell clearance
- engulfment of apoptotic cell
- recognition of apoptotic cell
- myoblast development
- regulation of muscle cell differentiation
- myoblast migration
- satellite cell activation
- regulation of skeletal muscle tissue development
- satellite cell differentiation
- positive regulation of myoblast proliferation
- muscle cell proliferation
- homotypic cell-cell adhesion
- satellite cell proliferation
Cellular Component
Where in the cell the gene product is active
- cell projection
- phagocytic cup
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- scavenger receptor activity
- Notch binding
- complement component C1q binding