Megf10 multiple EGF-like-domains 10 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Megf10provided by MGI
Official Full Name: multiple EGF-like-domains 10provided by MGI
Primary source: MGI:MGI:2685177
See related: Ensembl:ENSMUSG00000024593 AllianceGenome:MGI:2685177
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm331; 3000002B06Rik
Summary: Enables Notch binding activity. Involved in several processes, including myoblast development; positive regulation of myoblast proliferation; and skeletal muscle satellite cell proliferation. Acts upstream of or within apoptotic process involved in development; engulfment of apoptotic cell; and recognition of apoptotic cell. Located in phagocytic cup. Is expressed in several structures, including brain; heart; retina layer; skeletal muscle tissue; and testis. Human ortholog(s) of this gene implicated in congenital myopathy 10B and early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome. Orthologous to human MEGF10 (multiple EGF like domains 10). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 5.1), CNS E11.5 (RPKM 3.5) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 D3; 18 31.5 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (57266162..57430539)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (57133090..57297467)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cellular and molecular alterations to muscles and neuromuscular synapses in a mouse model of MEGF10-related myopathy.
Title: Cellular and molecular alterations to muscles and neuromuscular synapses in a mouse model of MEGF10-related myopathy.
Megf10-related engulfment of excitatory postsynapses by astrocytes following severe brain injury.
Title: Megf10-related engulfment of excitatory postsynapses by astrocytes following severe brain injury.
Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration.
Title: Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration.
We find that tubular muscle subtypes are particularly sensitive to Megf10/Drpr overexpression. Complementary genetic analyses show that Megf10/Drpr and Notch may interact to regulate myogenesis. Our findings provide a basis for investigating MEGF10 in muscle development using Drosophila.
Title: The impact of Megf10/Drpr gain-of-function on muscle development in Drosophila.
Results indicate that Multiple-EGF like domains 10 (MEGF10)may be responsible for phagocytic activity targeted toward unwanted substances such as amyloid in cholinergic and glutamatergic neurons.
Title: Expression of MEGF10 in cholinergic and glutamatergic neurons.
Megf10 binds with high affinity to C1q, an eat-me signal for apoptotic cells. Cells expressing Megf10 with EMARDD mutations have impaired apoptotic cell clearance and impaired binding to C1q.
Title: Megf10 Is a Receptor for C1Q That Mediates Clearance of Apoptotic Cells by Astrocytes.
studies reveal a novel role for astrocytes in mediating synapse elimination in the developing and adult brain, identify MEGF10 and MERTK as critical proteins in the synapse remodelling underlying neural circuit refinement
Title: Astrocytes mediate synapse elimination through MEGF10 and MERTK pathways.
Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.
Title: Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.
These results indicated that both Jedi-1 and MEGF10 can mediate phagocytosis independently through the recruitment of Syk.
Title: Jedi-1 and MEGF10 signal engulfment of apoptotic neurons through the tyrosine kinase Syk.
in mouse, two related transmembrane proteins, MEGF10 and MEGF11, have critical roles in the formation of mosaics by two retinal interneuron subtypes, starburst amacrine cells and horizontal cells
Title: MEGF10 and MEGF11 mediate homotypic interactions required for mosaic spacing of retinal neurons.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables Notch binding	IBA Inferred from Biological aspect of Ancestor more info
enables Notch binding	IPI Inferred from Physical Interaction more info	PubMed
enables Notch binding	ISO Inferred from Sequence Orthology more info
enables complement component C1q complex binding	ISO Inferred from Sequence Orthology more info	PubMed
enables scavenger receptor activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic cell clearance	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within apoptotic process involved in development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within engulfment of apoptotic cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homotypic cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in homotypic cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle cell development	ISO Inferred from Sequence Orthology more info
involved_in muscle cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in myoblast development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myoblast migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myoblast migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of myoblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of myoblast proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within recognition of apoptotic cell	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within recognition of apoptotic cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of muscle cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in regulation of muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in regulation of skeletal muscle tissue development	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle satellite cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle satellite cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle satellite cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle satellite cell proliferation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in phagocytic cup	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic cup	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: multiple epidermal growth factor-like domains protein 10

Names: multiple EGF-like domains protein 10

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001001979.2 → NP_001001979.1 multiple epidermal growth factor-like domains protein 10 precursor

See identical proteins and their annotated locations for NP_001001979.1

Status: VALIDATED

Source sequence(s)

AK013855, AK147238, BC075647

Consensus CDS

CCDS29264.1

UniProtKB/Swiss-Prot

Q3TLU3, Q3UG73, Q6DIB5

UniProtKB/TrEMBL

A0A140T8S0

Related

ENSMUSP00000075174.7, ENSMUST00000075770.13

Conserved Domains (2) summary

pfam07546
Location:32 → 99

EMI; EMI domain

cl21504
Location:281 → 326

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...