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Aliases for MEGF10 Gene

Aliases for MEGF10 Gene

  • Multiple EGF-Like-Domains 10 2 3
  • KIAA1780 4 6
  • EMARDD 3 6
  • Multiple Epidermal Growth Factor-Like Domains Protein 10 3
  • Multiple EGF-Like Domains Protein 10 4

External Ids for MEGF10 Gene

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 dysphagia and myopathy, areflexia, respiratory distress, and dysphagia, early-onset. An important paralog of this gene is MEGF11.

UniProtKB/Swiss-Prot for MEGF10 Gene

  • Membrane receptor involved in phagocytosis by macrophages of apoptotic cells. 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. 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. May play role in cell adhesion and motility. Is also an essential factor in the regulation of myogenesis. Controls the balance between skeletal muscle satellite cells proliferation and differentiation problably through regulation of the notch signaling pathway.

Gene Wiki entry for MEGF10 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEGF10 Gene

Genomics for MEGF10 Gene

Genomic Location for MEGF10 Gene

Start:
127,290,764 bp from pter
End:
127,465,737 bp from pter
Size:
174,974 bases
Orientation:
Plus strand

Genomic View for MEGF10 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Does not interact with MEGF11.
    SequenceCaution:
    • Sequence=BAB47409.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MEGF10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MEGF10 Gene

Proteomics data for MEGF10 Gene at MOPED

Post-translational modifications for MEGF10 Gene

Other Protein References for MEGF10 Gene

No data available for DME Specific Peptides for MEGF10 Gene

Domains for MEGF10 Gene

Protein Domains for MEGF10 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

MEG10_HUMAN
Domain:
  • The EMI and EGF-like domains work in concert to promote self-assembly:
    • Q96KG7
  • Contains 15 EGF-like domains.:
    • Q96KG7
  • Contains 1 EMI domain.:
    • Q96KG7
Family:
  • Belongs to the MEGF family.:
    • Q96KG7
genes like me logo Genes that share domains with MEGF10: view

No data available for Gene Families for MEGF10 Gene

Function for MEGF10 Gene

Molecular function for MEGF10 Gene

UniProtKB/Swiss-Prot Function: Membrane receptor involved in phagocytosis by macrophages of apoptotic cells. 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. 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. May play role in cell adhesion and motility. Is also an essential factor in the regulation of myogenesis. Controls the balance between skeletal muscle satellite cells proliferation and differentiation problably through regulation of the notch signaling pathway.

Gene Ontology (GO) - Molecular Function for MEGF10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with MEGF10: view

Phenotypes for MEGF10 Gene

MGI mutant phenotypes for MEGF10:
inferred from 1 alleles
GenomeRNAi human phenotypes for MEGF10:
genes like me logo Genes that share phenotypes with MEGF10: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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. Basolateral cell membrane; Single-pass type I membrane protein. Cell projection, phagocytic cup. Note=Enriched at the sites of contact with apoptotic thymocyte cells (By similarity). 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. Colocalizes with ABCA1 in absence of any phagocytic challenge. Does not localize within lamellipodia. Does not localize with MEGF11. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MEGF10 Gene COMPARTMENTS Subcellular localization image for MEGF10 gene
Compartment Confidence
plasma membrane 5
extracellular 3

Gene Ontology (GO) - Cellular Components for MEGF10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001891 phagocytic cup IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with MEGF10: view

Pathways for MEGF10 Gene

SuperPathways for MEGF10 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MEGF10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014719 skeletal muscle satellite cell activation ISS --
GO:0014816 skeletal muscle satellite cell differentiation IMP 22101682
GO:0014841 skeletal muscle satellite cell proliferation ISS --
GO:0034109 homotypic cell-cell adhesion IDA 22407321
GO:0043654 recognition of apoptotic cell IEA --
genes like me logo Genes that share ontologies with MEGF10: view

No data available for Pathways by source for MEGF10 Gene

Transcripts for MEGF10 Gene

mRNA/cDNA for MEGF10 Gene

(6) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MEGF10 Gene

Multiple EGF-like-domains 10:
Representative Sequences:

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

No ASD Table

Relevant External Links for MEGF10 Gene

GeneLoc Exon Structure for
MEGF10
ECgene alternative splicing isoforms for
MEGF10

Expression for MEGF10 Gene

mRNA expression in normal human tissues 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) (5.9), Brain - Caudate (basal ganglia) (5.5), Brain - Putamen (basal ganglia) (5.0), Brain - Nucleus accumbens (basal ganglia) (4.8), Brain - Amygdala (4.6), Brain - Substantia nigra (4.4), and Brain - Hippocampus (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MEGF10 Gene

SOURCE GeneReport for Unigene cluster for MEGF10 Gene Hs.438709

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

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 36
  • 99.18 (n)
  • 99.3 (a)
MEGF10 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MEGF10 36
  • 91.13 (n)
  • 95.65 (a)
MEGF10 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MEGF10 36
  • 91.25 (n)
  • 95.74 (a)
MEGF10 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Megf10 36
  • 87.76 (n)
  • 94.94 (a)
Megf10 16
Megf10 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MEGF10 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MEGF10 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Megf10 36
  • 87.78 (n)
  • 94.68 (a)
chicken
(Gallus gallus)
Aves MEGF10 36
  • 81.05 (n)
  • 89.52 (a)
MEGF10 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MEGF10 37
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia megf10 36
  • 75.5 (n)
  • 83.87 (a)
Str.19153 36
zebrafish
(Danio rerio)
Actinopterygii megf10 36
  • 72.77 (n)
  • 77.4 (a)
megf10 37
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta drpr 37
  • 36 (a)
OneToMany
BG:DS00180.10 38
  • 27 (a)
BG:DS00180.14 38
  • 24 (a)
CG18172 38
  • 45 (a)
drpr 38
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea ced-1 37
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 39 (a)
OneToMany
Species with no ortholog for MEGF10:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MEGF10 Gene

Paralogs for MEGF10 Gene

Selected SIMAP similar genes for MEGF10 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for MEGF10 Gene

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

Variants for MEGF10 Gene

Sequence variations from dbSNP and Humsavar for MEGF10 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs17763 -- 127,393,501(+) CAACC(C/T)AGGTT intron-variant
rs17765 -- 127,393,703(+) AACCA(A/G)GTCAG intron-variant
rs26943 -- 127,335,747(-) TGAGG(G/T)TATTT intron-variant
rs26944 -- 127,333,312(-) tctca(A/C)aatcc intron-variant
rs26945 -- 127,326,422(-) AGGCT(A/G)GTTAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830478 CNV Loss 17160897
esv2730748 CNV Deletion 23290073
esv2730749 CNV Deletion 23290073
nsv526333 CNV Loss 19592680

Relevant External Links for MEGF10 Gene

HapMap Linkage Disequilibrium report
MEGF10
Human Gene Mutation Database (HGMD)
MEGF10

Disorders for MEGF10 Gene

(1) OMIM Diseases for MEGF10 Gene (612453)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MEGF10

Genetic Association Database (GAD)
MEGF10
Human Genome Epidemiology (HuGE) Navigator
MEGF10
genes like me logo Genes that share disorders with MEGF10: view

Publications for MEGF10 Gene

  1. The mammalian Ced-1 ortholog MEGF10/KIAA1780 displays a novel adhesion pattern. (PMID: 17498693) Suzuki E. … Nakayama M. (Exp. Cell Res. 2007) 3 4 23
  2. 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 Res. 2001) 2 3 4
  3. Cooperation between engulfment receptors: the case of ABCA1 and MEGF10. (PMID: 17205124) Hamon Y. … Chimini G. (PLoS ONE 2006) 3 4
  4. MEGF10 is a mammalian ortholog of CED-1 that interacts with clathrin assembly protein complex 2 medium chain and induces large vacuole formation. (PMID: 17643423) Suzuki E. … Nakayama M. (Exp. Cell Res. 2007) 3 4
  5. MEGF10 association with schizophrenia. (PMID: 18179784) Chen X. … Kendler K.S. (Biol. Psychiatry 2008) 3 49

Products for MEGF10 Gene

Sources for MEGF10 Gene

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