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... See more...

Aliases for MEGF10 Gene

Aliases for MEGF10 Gene

  • Multiple EGF Like Domains 10 2 3 5
  • Multiple Epidermal Growth Factor-Like Domains Protein 10 3 4
  • KIAA1780 2 4
  • SR-F3 2 3
  • Multiple EGF-Like Domains Protein 10 4
  • Multiple EGF-Like-Domains 10 2
  • EMARDD 3
  • MEGF10 5

External Ids for MEGF10 Gene

Previous GeneCards Identifiers for MEGF10 Gene

  • GC05P126164
  • GC05P127062
  • GC05P126657
  • GC05P126702
  • GC05P126654
  • GC05P121817
  • GC05P127290

Summaries for MEGF10 Gene

Entrez Gene Summary for MEGF10 Gene

  • 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]

GeneCards Summary for MEGF10 Gene

MEGF10 (Multiple EGF Like Domains 10) is a Protein Coding gene. Diseases associated with MEGF10 include Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset and Dysphagia. Gene Ontology (GO) annotations related to this gene include endopeptidase inhibitor activity. An important paralog of this gene is MEGF11.

UniProtKB/Swiss-Prot Summary for MEGF10 Gene

  • Membrane receptor involved in phagocytosis by macrophages and astrocytes of apoptotic cells. Receptor for C1q, an eat-me signal, that binds phosphatidylserine expressed on the surface of apoptotic cells (PubMed:27170117). Cooperates with ABCA1 within the process of engulfment. Promotes the formation of large intracellular vacuoles and may be responsible for the uptake of amyloid-beta peptides (PubMed:20828568, PubMed:17643423). Necessary for astrocyte-dependent apoptotic neuron clearance in the developing cerebellum (PubMed:27170117). Plays role in muscle cell proliferation, adhesion and motility. Is also an essential factor in the regulation of myogenesis. Controls the balance between skeletal muscle satellite cells proliferation and differentiation through regulation of the notch signaling pathway (PubMed:28498977, Ref.14). May also function in the mosaic spacing of specific neuron subtypes in the retina through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements (PubMed:17498693, PubMed:17643423, PubMed:20828568, PubMed:22101682, PubMed:27170117, PubMed:28498977).

Gene Wiki entry for MEGF10 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MEGF10 Gene

Genomics for MEGF10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MEGF10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J127290 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.2 +62.4 62436 4.1 CTCF PRDM10 KDM1A ZNF692 PRDM1 ZIC2 PATZ1 REST RAD21 POLR2A ENSG00000286615 LOC105379199 MEGF10 MARCHF3 PRRC1 LOC105379198 piR-37895-133
GH05J127228 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 600.7 +0.1 81 1.6 RNF2 JUND FOXA1 POLR2A EZH2 GTF2F1 MGA ZFX UBTF DPF2 ENSG00000283897 L13304-027 LOC105379198 MEGF10 lnc-MEGF10-1 MARCHF3
GH05J127229 Promoter 0.3 Ensembl 600.7 -1.0 -1018 0.2 ENSG00000283897 L13304-027 LOC105379198 MEGF10 lnc-MEGF10-1 MARCHF3 C5orf63
GH05J126970 Enhancer 1.1 ENCODE dbSUPER 11.4 -257.6 -257613 3.8 ATF7 PRDM10 LEF1 IKZF1 JUND DDX20 MTA2 PKNOX1 ZNF24 MTA1 MARCHF3 PRRC1 MEGF10 PHAX C5orf63 piR-57133-492 RF00017-4856 LMNB1
GH05J127298 Enhancer 0.7 FANTOM5 Ensembl dbSUPER 16 +70.0 69982 3.4 CTCF RAD21 MEGF10 MARCHF3 CTXN3 LOC105379199 LOC105379198 piR-37895-133 PRRC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MEGF10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MEGF10

Top Transcription factor binding sites by QIAGEN in the MEGF10 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • Arnt
  • Ik-1
  • MyoD
  • Nkx2-5

Genomic Locations for MEGF10 Gene

Genomic Locations for MEGF10 Gene
chr5:127,229,519-127,465,737
(GRCh38/hg38)
Size:
236,219 bases
Orientation:
Plus strand
chr5:126,626,456-126,801,429
(GRCh37/hg19)
Size:
174,974 bases
Orientation:
Plus strand

Genomic View for MEGF10 Gene

Genes around MEGF10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEGF10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEGF10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEGF10 Gene

Proteins for MEGF10 Gene

  • Protein details for MEGF10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KG7-MEG10_HUMAN
    Recommended name:
    Multiple epidermal growth factor-like domains protein 10
    Protein Accession:
    Q96KG7
    Secondary Accessions:
    • Q68DE5
    • Q8WUL3

    Protein attributes for MEGF10 Gene

    Size:
    1140 amino acids
    Molecular mass:
    122205 Da
    Quaternary structure:
    • Homopolymer (Probable). Interacts with GULP1 and ABCA1. Interacts with AP2M1 (PubMed:17643423). Does not interact with MEGF11 (PubMed:17498693). Binds with high affinity to complement C1q (PubMed:27170117). Interacts (via the cytoplasmic domain) with NOTCH1 (via NICD domain) (PubMed:28498977).
    SequenceCaution:
    • Sequence=BAB47409.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for MEGF10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MEGF10 Gene

Post-translational modifications for MEGF10 Gene

  • Phosphorylated on tyrosine residues. Phosphorylation at Tyr-1030 may be important for muscle cell proliferation.
  • Ubiquitinated; mono- and polyubiquitinated forms are detected.
  • Glycosylation at Asn134 and Asn496
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MEGF10 Gene

Domains & Families for MEGF10 Gene

Gene Families for MEGF10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MEGF10 Gene

InterPro:
Blocks:
  • EMI
ProtoNet:

Suggested Antigen Peptide Sequences for MEGF10 Gene

GenScript: Design optimal peptide antigens:
  • Multiple epidermal growth factor-like domains protein 10 (MEG10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96KG7

UniProtKB/Swiss-Prot:

MEG10_HUMAN :
  • The EMI and EGF-like domains work in concert to promote self-assembly.
  • Belongs to the MEGF family.
Domain:
  • The EMI and EGF-like domains work in concert to promote self-assembly.
Family:
  • Belongs to the MEGF family.
genes like me logo Genes that share domains with MEGF10: view

Function for MEGF10 Gene

Molecular function for MEGF10 Gene

UniProtKB/Swiss-Prot Function:
Membrane receptor involved in phagocytosis by macrophages and astrocytes of apoptotic cells. Receptor for C1q, an eat-me signal, that binds phosphatidylserine expressed on the surface of apoptotic cells (PubMed:27170117). Cooperates with ABCA1 within the process of engulfment. Promotes the formation of large intracellular vacuoles and may be responsible for the uptake of amyloid-beta peptides (PubMed:20828568, PubMed:17643423). Necessary for astrocyte-dependent apoptotic neuron clearance in the developing cerebellum (PubMed:27170117). Plays role in muscle cell proliferation, adhesion and motility. Is also an essential factor in the regulation of myogenesis. Controls the balance between skeletal muscle satellite cells proliferation and differentiation through regulation of the notch signaling pathway (PubMed:28498977, Ref.14). May also function in the mosaic spacing of specific neuron subtypes in the retina through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements (PubMed:17498693, PubMed:17643423, PubMed:20828568, PubMed:22101682, PubMed:27170117, PubMed:28498977).

Phenotypes From GWAS Catalog for MEGF10 Gene

Gene Ontology (GO) - Molecular Function for MEGF10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001849 complement component C1q binding IDA 27170117
GO:0005044 scavenger receptor activity IDA 27170117
GO:0005112 Notch binding IPI 28498977
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with MEGF10: view
genes like me logo Genes that share phenotypes with MEGF10: view

Human Phenotype Ontology for MEGF10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MEGF10 Gene

MGI Knock Outs for MEGF10:

Animal Model Products

  • Taconic Biosciences Mouse Models for MEGF10

CRISPR Products

miRNA for MEGF10 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MEGF10

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MEGF10 Gene

Localization for MEGF10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEGF10 Gene

Cell membrane. Single-pass type I membrane protein. Cell projection, phagocytic cup. Note=Enriched at the sites of contact with apoptotic thymocyte cells (PubMed:17205124). Forms an irregular, mosaic-like adhesion pattern in region of the cell surface that becomes firmely fixed to the substrate. Expressed at the cell surface in clusters around cell corpses during engulfment. During the engulfment of apoptotic thymocytes, recruited at the bottom of the forming phagocytic cup (PubMed:17498693). Colocalizes with ABCA1 in absence of any phagocytic challenge (PubMed:17205124). Does not localize within lamellipodia (PubMed:17498693). Does not localize with MEGF11 (PubMed:17498693). {ECO:0000269 PubMed:17205124, ECO:0000269 PubMed:17498693}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MEGF10 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MEGF10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001891 phagocytic cup IEA,IDA 17205124
GO:0005886 plasma membrane IEA,IDA 27170117
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with MEGF10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MEGF10 Gene

Pathways & Interactions for MEGF10 Gene

PathCards logo

SuperPathways for MEGF10 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MEGF10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006909 phagocytosis IEA --
GO:0007155 cell adhesion IEA --
GO:0007517 muscle organ development IEA --
GO:0014719 skeletal muscle satellite cell activation ISS --
GO:0014816 skeletal muscle satellite cell differentiation IMP 22101682
genes like me logo Genes that share ontologies with MEGF10: view

No data available for Pathways by source and SIGNOR curated interactions for MEGF10 Gene

Drugs & Compounds for MEGF10 Gene

No Compound Related Data Available

Transcripts for MEGF10 Gene

mRNA/cDNA for MEGF10 Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MEGF10

Alternative Splicing Database (ASD) splice patterns (SP) for MEGF10 Gene

No ASD Table

Relevant External Links for MEGF10 Gene

GeneLoc Exon Structure for
MEGF10

Expression for MEGF10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MEGF10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MEGF10 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.9), Brain - Caudate (basal ganglia) (x5.5), Brain - Putamen (basal ganglia) (x5.0), Brain - Nucleus accumbens (basal ganglia) (x4.8), Brain - Amygdala (x4.6), Brain - Substantia nigra (x4.4), and Brain - Hippocampus (x4.1).

Protein differential expression in normal tissues from HIPED for MEGF10 Gene

This gene is overexpressed in Cerebrospinal fluid (37.3), Pancreatic juice (12.7), and Heart (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MEGF10 Gene



Protein tissue co-expression partners for MEGF10 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MEGF10

SOURCE GeneReport for Unigene cluster for MEGF10 Gene:

Hs.438709

Evidence on tissue expression from TISSUES for MEGF10 Gene

  • Nervous system(4.8)
  • Eye(4.5)
  • Muscle(4.4)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MEGF10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • epiglottis
  • face
  • head
  • larynx
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • vocal cord
Thorax:
  • bronchus
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
  • sternum
  • trachea
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • prostate
  • rectum
  • urinary bladder
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with MEGF10: view

No data available for mRNA Expression by UniProt/SwissProt for MEGF10 Gene

Orthologs for MEGF10 Gene

This gene was present in the common ancestor of animals.

Orthologs for MEGF10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MEGF10 30 31
  • 99.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MEGF10 30 31
  • 91.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MEGF10 30 31
  • 91.13 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MEGF10 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Megf10 30
  • 87.78 (n)
Mouse
(Mus musculus)
Mammalia Megf10 30 17 31
  • 87.76 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MEGF10 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MEGF10 30 31
  • 81.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MEGF10 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia megf10 30
  • 75.5 (n)
Str.19153 30
Zebrafish
(Danio rerio)
Actinopterygii megf10 30 31
  • 72.77 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG18172 32
  • 45 (a)
drpr 31 32
  • 36 (a)
OneToMany
BG:DS00180.10 32
  • 27 (a)
BG:DS00180.14 32
  • 24 (a)
Worm
(Caenorhabditis elegans)
Secernentea ced-1 31
  • 31 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToMany
Species where no ortholog for MEGF10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MEGF10 Gene

ENSEMBL:
Gene Tree for MEGF10 (if available)
TreeFam:
Gene Tree for MEGF10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MEGF10: view image

Paralogs for MEGF10 Gene

Paralogs for MEGF10 Gene

(3) SIMAP similar genes for MEGF10 Gene using alignment to 1 proteins:

  • MEG10_HUMAN

Pseudogenes.org Pseudogenes for MEGF10 Gene

genes like me logo Genes that share paralogs with MEGF10: view

Variants for MEGF10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MEGF10 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
639163 Uncertain Significance: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 127,396,565(+) C/T MISSENSE_VARIANT
642548 Uncertain Significance: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 127,420,179(+) G/C MISSENSE_VARIANT
643289 Uncertain Significance: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 127,438,489(+) C/T MISSENSE_VARIANT
643383 Uncertain Significance: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 127,440,795(+) G/A MISSENSE_VARIANT
643447 Pathogenic: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 127,339,201(+) G/ACATTC NONSENSE

Additional dbSNP identifiers (rs#s) for MEGF10 Gene

Structural Variations from Database of Genomic Variants (DGV) for MEGF10 Gene

Variant ID Type Subtype PubMed ID
esv2730748 CNV deletion 23290073
esv2730749 CNV deletion 23290073
esv3606705 CNV loss 21293372
esv3606706 CNV gain 21293372
esv3890733 CNV gain 25118596
nsv1033607 CNV gain 25217958
nsv526333 CNV loss 19592680
nsv830478 CNV loss 17160897

Variation tolerance for MEGF10 Gene

Residual Variation Intolerance Score: 3.12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.66; 78.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MEGF10 Gene

Human Gene Mutation Database (HGMD)
MEGF10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEGF10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEGF10 Gene

Disorders for MEGF10 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MEGF10 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, areflexia, respiratory distress, and dysphagia, early-onset
  • emardd
dysphagia
  • deglutition disorders
myopathy
  • muscular diseases
multiminicore disease
  • minicore myopathy with external ophthalmoplegia
scoliosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MEG10_HUMAN
  • Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) [MIM:614399]: An autosomal recessive congenital myopathy characterized by onset at birth, or early in infancy, of respiratory distress caused by diaphragmatic weakness. Additional features are dysphagia resulting in poor feeding, failure to thrive, poor head control, facial weakness, cleft palate, contractures and scoliosis. Affected individuals become ventilator-dependent, and most require feeding by gastrostomy. The disorder results in severe muscle weakness and most patients never achieve walking. Death from respiratory failure in childhood occurs in about half of patients. Muscle biopsies from affected individuals show myopathic changes, replacement of myofibers with fatty tissue, small and incompletely fused muscle fibers, and variation in fiber size. Short regions of sarcomeric disorganization with few or no mitochondria (minicores) have been observed in some cases. {ECO:0000269 PubMed:22101682, ECO:0000269 PubMed:22371254, ECO:0000269 PubMed:23954233, ECO:0000269 PubMed:27170117, ECO:0000269 PubMed:28498977, ECO:0000269 Ref.14}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=An adult onset form of MEG10 myopathy, a condition characterized by muscle weakness and respiratory distress. Additional features include a palatal midline ridge, bilateral scapular winging, pes cavus, lumbar lordosis and protruded abdomen. Muscle weakness is proximal more than distal with diffusely absent deep tendon reflexes. Affected individuals become ventilator-dependent and have poor exercise tolerance. Muscle biopsies from affected individuals show myopathic changes such as fiber atrophy and the presence of core-like structures. Prior to onset of symptoms, affected individuals do not display any significant respiratory or motor symptoms. {ECO:0000269 Ref.14}.

Additional Disease Information for MEGF10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MEGF10: view

No data available for Genatlas for MEGF10 Gene

Publications for MEGF10 Gene

  1. Megf10 Is a Receptor for C1Q That Mediates Clearance of Apoptotic Cells by Astrocytes. (PMID: 27170117) Iram T … El Khoury J (The Journal of neuroscience : the official journal of the Society for Neuroscience 2016) 2 3 4
  2. The mammalian Ced-1 ortholog MEGF10/KIAA1780 displays a novel adhesion pattern. (PMID: 17498693) Suzuki E … Nakayama M (Experimental cell research 2007) 3 4 23
  3. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4
  4. Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions. (PMID: 28498977) Saha M … Kang PB (Human molecular genetics 2017) 3 4
  5. Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. (PMID: 23954233) Mitsuhashi S … Kang PB (FEBS letters 2013) 3 4

Products for MEGF10 Gene

Sources for MEGF10 Gene