MEGF10 - multiple EGF like domains 10 Gene

Also Known as SR-F3; EMARDD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84466

About MEGF10

Cytogenetic location: 5q23.2 Genomic coordinates (GRCh38): 5:127,229,300-127,461,222 (from NCBI)

This gene has 10 transcripts (splice variants), 193 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 5.7), adrenal (RPKM 1.0) and 4 other tissues.

Summary

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]

MEGF10 Products (4)

mRNA	Protein	Name
NM_001256545.2	NP_001243474.1	multiple epidermal growth factor-like domains protein 10 isoform a precursor
NM_001308119.2	NP_001295048.1	multiple epidermal growth factor-like domains protein 10 isoform b precursor
NM_001308121.2	NP_001295050.1	multiple epidermal growth factor-like domains protein 10 isoform b precursor
NM_032446.3	NP_115822.1	multiple epidermal growth factor-like domains protein 10 isoform a precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables Notch binding	IPI IPI: Inferred from physical interaction	28498977	GOA
enables complement component C1q complex binding	IDA IDA: Inferred from direct assay	27170117	GOA
enables scavenger receptor activity	IDA IDA: Inferred from direct assay	27170117	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in homotypic cell-cell adhesion	IDA IDA: Inferred from direct assay	22407321	GOA
involved in muscle cell development	IMP IMP: Inferred from mutant phenotype	22101682	GOA
involved in muscle cell proliferation	IMP IMP: Inferred from mutant phenotype	28498977	GOA
involved in myoblast migration	IMP IMP: Inferred from mutant phenotype	28498977	GOA
involved in positive regulation of cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	31267131	GOA
involved in positive regulation of myoblast proliferation	IMP IMP: Inferred from mutant phenotype	31267131	GOA
involved in regulation of muscle cell differentiation	IMP IMP: Inferred from mutant phenotype	22101682	GOA
involved in regulation of skeletal muscle tissue development	IMP IMP: Inferred from mutant phenotype	22101682	GOA
involved in skeletal muscle satellite cell differentiation	IMP IMP: Inferred from mutant phenotype	22101682	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in phagocytic cup	IDA IDA: Inferred from direct assay	17205124	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	27170117	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MEGF10 Protein Structure

hEGF

Laminin_EGF

hEGF

Laminin_EGF

0
200
400
600
800
1000
1140 a.a.

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

Recombinant MEGF10 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76490	MEGF10 Protein, Human (HEK293, Fc)	Q96KG7-1 (L26-G857)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P76491	MEGF10 Protein, Human (HEK293, His)	Q96KG7-1 (L26-G857)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset	EMARDD Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia
Myopathy	Muscular Diseases Myopathies
Scoliosis
Rhabdomyolysis-Myalgia Syndrome
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Complex Cortical Dysplasia With Other Brain Malformations 6 CDCBM6 Cdcbm56 Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 6
Nemaline Myopathy 2	NEM2 Nemaline Myopathy 2, Autosomal Recessive Nemaline Myopathy, Type 2 Neb-Related Nemaline Myopathy Myopathy, Nemaline, Type 2
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Rigid Spine Muscular Dystrophy 1	Rigid Spine Syndrome RSMD1 Rss Mdrs1 Eichsfeld Type Congenital Muscular Dystrophy Desmin-Related Myopathy With Mallory Bodies Classic Multiminicore Myopathy Sepn1-Related Myopathy Multicore Myopathy, Severe Classic Form Minicore Myopathy, Severe Classic Form Multiminicore Disease, Severe Classic Form Muscular Dystrophy, Rigid Spine, 1 Classic Mmd Classic Multiminicore Disease Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity Desmin-Related Myopathy With Mallory Body-Like Inclusions Early-Onset Desmin-Related Myopathy Myopathy, Sepn1-Related Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity Muscular Dystrophy, Congenital, Eichsfeld Type Severe Classic Form Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Desmin-Related Myopathies With Mallory Bodies Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity Rigid Spine Muscular Dystrophy-1 Rigid Spine Congenital Muscular Dystrophy Congenital Muscular Dystrophy Eichsfeld Type Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Severe Classic Form Dystrophy, Muscular, Rigid Spine, Type 1
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS18007	Megf10 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08314	MEGF10 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24480	Megf10 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MEGF10	VGNC	VGNC:74617
Bos taurus	MEGF10	VGNC	VGNC:31375
Canis familiaris	MEGF10	VGNC	VGNC:43147
Felis catus	MEGF10	VGNC	VGNC:102255
Mus musculus	MEGF10	MGD	MGI:2685177
Rattus norvegicus	MEGF10	RGD	RGD:735084
Others	MEGF10	NCBI