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MEGF10 Gene

protein-coding   GIFtS: 53
GCID: GC05P126654

Multiple EGF-Like-Domains 10

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Multiple EGF-Like-Domains 101 2
EMARDD2 5
KIAA17803 5
Multiple Epidermal Growth Factor-Like Domains Protein 102
Multiple EGF-Like Domains Protein 103

External Ids:    HGNC: 296341   Entrez Gene: 844662   Ensembl: ENSG000001457947   OMIM: 6124535   UniProtKB: Q96KG73   

Export aliases for MEGF10 gene to outside databases

Previous GC identifers: GC05P126164 GC05P127062 GC05P126657 GC05P126702 GC05P121817


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, early-onset, areflexia, respiratory distress, and dysphagia. An important paralog of this gene is SCARF1.

UniProtKB/Swiss-Prot: MEG10_HUMAN, Q96KG7
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 Wiki entry for MEGF10 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MEGF10 gene promoter:
         AP-2alpha isoform 3   MyoD   Nkx2-5   AP-2alpha isoform 2   Arnt   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMEGF10 promoter sequence
   Search Chromatin IP Primers for MEGF10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MEGF10


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q33   Ensembl cytogenetic band:  5q23.2   HGNC cytogenetic band: 5q33

MEGF10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MEGF10 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P126654:  view genomic region     (about GC identifiers)

Start:
126,626,456 bp from pter      End:
126,801,429 bp from pter
Size:
174,974 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MEG10_HUMAN, Q96KG7 (See protein sequence)
Recommended Name: Multiple epidermal growth factor-like domains protein 10 precursor  
Size: 1140 amino acids; 122205 Da
Subunit: Homopolymer (Probable). Interacts with GULP1 and ABCA1. Interacts with AP2M1. Does not interact with
MEGF11
Sequence caution: Sequence=BAB47409.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q68DE5 Q8WUL3
Alternative splicing: 2 isoforms:  Q96KG7-1   Q96KG7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MEGF10: NX_Q96KG7

Explore proteomics data for MEGF10 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine residues1
  • Ubiquitinated; mono- and polyubiquitinated forms are detected1
  • Glycosylation2 at Asn134, Asn496
  • Modification sites at PhosphoSitePlus

  • See MEGF10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001243474.1  NP_115822.1  

    ENSEMBL proteins: 
     ENSP00000423354   ENSP00000423195   ENSP00000416284   ENSP00000274473  

    MEGF10 Human Recombinant Protein Products:

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    Search for Antibodies for MEGF10 at Abcam
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    Search ThermoFisher Antibodies for MEGF10
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    MEGF10 Assay Products:

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    Cloud-Clone Corp. CLIAs for MEGF10


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR000742 EG-like_dom
     IPR011489 EMI_domain
     IPR002049 EGF_laminin
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry Q96KG7

    ProtoNet protein and cluster: Q96KG7

    1 Blocks protein domain: IPB011489 EMI

    UniProtKB/Swiss-Prot: MEG10_HUMAN, Q96KG7
    Domain: The EMI and EGF-like domains work in concert to promote self-assembly
    Similarity: Belongs to the MEGF family
    Similarity: Contains 15 EGF-like domains
    Similarity: Contains 1 EMI domain


    MEGF10 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MEG10_HUMAN, Q96KG7
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity ----
    GO:0005515protein binding ----
         
    MEGF10 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MEGF10:
     Increased cilium length after  

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Megf10):
     nervous system  vision/eye 

    MEGF10 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MEGF10
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MEGF10

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MEGF10
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MEGF10

    miRNA
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    Block miRNA regulation of human, mouse, rat MEGF10 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MEGF10 (see all 39):
    hsa-miR-374a hsa-miR-502-3p hsa-miR-9 hsa-miR-3908 hsa-miR-3613-3p hsa-miR-190 hsa-miR-181b hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidMEGF10 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MEGF10
    Predesigned siRNA for gene silencing in human, mouse, rat MEGF10

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for MEGF10
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MEGF10 (NM_032446)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MEGF10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MEGF10

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEGF10


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MEG10_HUMAN, Q96KG7: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001891phagocytic cup IEA--
    GO:0016021integral component of membrane IEA--
    GO:0016323basolateral plasma membrane IEA--
    GO:0042995cell projection IEA--

    MEGF10 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MEGF10
    Interactions:

        Search GeneGlobe Interaction Network for MEGF10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MEGF10 (Q96KG73 ENSP000002744734) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DHX16O602313, ENSP000003656254I2D: score=2 STRING: ENSP00000365625
    ENSG00000233049O602313, ENSP000004089564I2D: score=2 STRING: ENSP00000408956
    ENSG00000233561O602313, ENSP000003909384I2D: score=2 STRING: ENSP00000390938
    ENSG00000206486O602313I2D: score=2 
    ENSG00000226171O602313I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0014719satellite cell activation ISS--
    GO:0014816satellite cell differentiation IMP--
    GO:0014841satellite cell proliferation ISS--
    GO:0034109homotypic cell-cell adhesion IDA--
    GO:0043654recognition of apoptotic cell IEA--

    MEGF10 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MEGF10 (MEG10)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MEGF10 gene (2 alternative transcripts): 
    NM_001256545.1  NM_032446.2  

    Unigene Cluster for MEGF10:

    Multiple EGF-like-domains 10
    Hs.438709  [show with all ESTs]
    Unigene Representative Sequence: NM_032446
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503335(uc003kui.4) ENST00000508365(uc010jdc.1 uc010jdd.1)
    ENST00000418761 ENST00000274473(uc003kuh.4) ENST00000515002 ENST00000506709
    ENST00000510513 ENST00000510828 ENST00000507158 ENST00000515622
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MEGF10 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MEGF10 (see all 39):
    hsa-miR-374a hsa-miR-502-3p hsa-miR-9 hsa-miR-3908 hsa-miR-3613-3p hsa-miR-190 hsa-miR-181b hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidMEGF10 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MEGF10
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MEGF10 (NM_032446)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MEGF10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MEGF10
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MEGF10
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MEGF10
      QuantiTect SYBR Green Assays in human, mouse, rat MEGF10
      QuantiFast Probe-based Assays in human, mouse, rat MEGF10

    Additional mRNA sequence: 

    AB058676.1 AK021631.1 AK123568.1 AK307919.1 BC020198.1 BC152478.1 CR749437.1 

    6 DOTS entries:

    DT.310590  DT.102826209  DT.97769618  DT.101974533  DT.97824564  DT.95239560 

    1 AceView cDNA sequence:

    BG828819 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MEGF10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATATGCAAG
    MEGF10 Expression
    About this image


    MEGF10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
             Human embryonic stem cells (family)
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Horizontal Cells Inner Nuclear Layer
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Granulosa Cells Primary Follicle
             Oviduct
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    MEGF10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MEGF10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.438709
        Custom PCR Arrays for MEGF10
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEGF10

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MEGF10 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Megf101 , 5 multiple EGF-like-domains 101, 5 87.76(n)1
    94.94(a)1
      18 (31.50 cM)5
    704171  NM_001001979.21  NP_001001979.11 
     571330905 
    chicken
    (Gallus gallus)
    Aves MEGF101 multiple EGF-like-domains 10 81.05(n)
    89.52(a)
      427126  XM_424719.4  XP_424719.3 
    lizard
    (Anolis carolinensis)
    Reptilia MEGF106
    multiple EGF-like-domains 10
    82(a)
    1 ↔ 1
    2(29605484-29727826)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.191532 Transcribed sequence with moderate similarity to protein more 79.81(n)    AL860947.2 
    zebrafish
    (Danio rerio)
    Actinopterygii megf101 multiple EGF-like-domains 10 72.77(n)
    77.4(a)
      564571  XM_001922489.3  XP_001922524.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG181723   -- 45(a)
    (best of 4)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea ced-16
    Protein CED-1, isoform c
    31(a)
    1 → many
    I(11851343-11868105) WBGene00000415


    ENSEMBL Gene Tree for MEGF10 (if available)
    TreeFam Gene Tree for MEGF10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MEGF10 gene
    SCARF12  MEGF112  PEAR12  SCARF22  
    3 SIMAP similar genes for MEGF10 using alignment to 1 protein entry:     MEG10_HUMAN:
    MEGF11    PEAR1    MEGF6

    MEGF10 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MEGF10
    PGOHUM00000239745


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MEGF10 (see all 3636)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0674714
    Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD)4--see VAR_0674712 C R mis40--------
    VAR_0674704
    Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD)4--see VAR_0674702 C R mis40--------
    rs788027801,2
    C,F--126645650(+) CTTTCC/TTTCTT 2 -- int11Minor allele frequency- T:0.50WA 2
    rs30508501,2
    C--126656324(+) CATTTTT/-TCTCC 2 -- int11Minor allele frequency- -:0.50NA 2
    rs342081161,2
    C--126659892(+) AGGGCT/-TTTTA 2 -- int11Minor allele frequency- -:0.50NA 2
    rs3776062261,2
    C--126661597(+) TATAT-/ATATA 
            
    TTTTT
    2 -- int10--------
    rs339304931,2
    C--126661601(+) TATAT-/A/ATA 
            
    TTTTT
    4 -- int1 cds11NA 2
    rs802304061,2
    C--126663268(+) GGACT-/TTCCTT 2 -- int10--------
    rs112856161,2
    C--126663407(+) TTTTC-/TTTTTT 2 -- int1 trp31Minor allele frequency- T:0.00NA 2
    rs11609601,2
    C--126689439(-) AACAGAG/-TTAGC 2 -- int16Minor allele frequency- -:0.44EU NA EA 346

    HapMap Linkage Disequilibrium report for MEGF10 (126626456 - 126801429 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MEGF10:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2730749CNV Deletion23290073
    esv2730748CNV Deletion23290073
    nsv830478CNV Loss17160897
    nsv526333CNV Loss19592680

    Human Gene Mutation Database (HGMD): MEGF10
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MEGF10
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612453   
    OMIM disorders: 614399  
    UniProtKB/Swiss-Prot: MEG10_HUMAN, Q96KG7
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 15 diseases for MEGF10:    
    About MalaCards
    dysphagia    myopathy, early-onset, areflexia, respiratory distress, and dysphagia    myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant    spinal muscular atrophy with respiratory distress 1
    myopathy    adenomyosis    schizophrenia    respiratory failure
    cleft palate    retinitis    alzheimer's disease    endotheliitis
    multiple myeloma    myeloma    neuronitis


    MEGF10 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MEGF10
    Human Genome Epidemiology (HuGE) Navigator: MEGF10 (4 documents)

    Export disorders for MEGF10 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MEGF10 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with MEGF10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2001)
    2. The mammalian Ced-1 ortholog MEGF10/KIAA1780 displays a novel adhesion pattern. (PubMed id 17498693)1, 2, 9 Suzuki E. and Nakayama M. (Exp. Cell Res. 2007)
    3. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. (PubMed id 22371254)1, 2 Boyden S.E.... Kang P.B. (Neurogenetics 2012)
    4. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). (PubMed id 22101682)1, 2 Logan C.V.... Johnson C.A. (Nat. Genet. 2011)
    5. MEGF10 functions as a receptor for the uptake of amyloid-beta. (PubMed id 20828568)1, 2 Singh T.D....Kim I.S. (FEBS Lett. 2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Apoptotic engulfment pathway and schizophrenia. (PubMed id 19721717)1, 4 Chen X....Kendler K.S. (PLoS ONE 2009)
    8. Vascular endothelial growth factor gene polymorphisms are associated with the risk of developing adenomyosis. (PubMed id 19197986)1, 4 Kang S....Li Y. (Environ. Mol. Mutagen. 2009)
    9. MEGF10 association with schizophrenia. (PubMed id 18179784)1, 4 Chen X....Kendler K.S. (Biol. Psychiatry 2008)
    10. MEGF10 is a mammalian ortholog of CED-1 that interacts with clathrin assembly protein complex 2 medium chain and induces large vacuole formation. (PubMed id 17643423)1, 2 Suzuki E. and Nakayama M. (Exp. Cell Res. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84466 HGNC: 29634 AceView: MEGF10.1 Ensembl:ENSG00000145794 euGenes: HUgn84466
    ECgene: MEGF10 H-InvDB: MEGF10

    (According to HUGE)
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    HUGE: KIAA1780

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MEGF10 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MEGF10 gene:
    Search GeneIP for patents involving MEGF10

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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