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FLASH GENE
Symbol MEGF10 contributors: mct/npt/pgu - updated : 09-05-2012
HGNC name multiple EGF-like-domains 10
HGNC id 29634
Corresponding disease
EMARDD myopathy, areflexia, respiratory distress, and dysphagia
Location 5q23.2      Physical location : 126.626.455 - 126.796.908
Synonym symbol(s) DKFZp781K1852, FLJ41574, KIAA1780
DNA
TYPE functioning gene
STRUCTURE 170.46 kb     26 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
CSNK1G3 5q23 casein kinase 1, gamma 3 LOC391827 5 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) KIAA1281 5q23.2 KIAA1281 protein LOC391828 5 similar to ribosomal protein L28 LOC391829 5 similar to High mobility group protein 1-like 10 (HMG-1L10) LOC389319 5 LOC389319 NS3TP2 5q23.3 HCV NS3-transactivated protein 2 ALDH7A1 5q31 aldehyde dehydrogenase 7 family, member A1 PHAX 5q23.3 likely ortholog of mouse phosphorylated adaptor for RNA export LOC133609 5q23.3 similar to 60S acidic ribosomal protein P1 LOC389320 5 hypothetical gene supported by AK131015 LOC285008 5q23.3 hypothetical gene supported by BC028282; BC028282; BC028282 LMNB1 5q23.3-q31.1 lamin B1 LOC389321 5 LOC389321 MGC48332 5q23.3 hypothetical protein MGC48332 MRPS5P3 5q23.3 mitochondrial ribosomal protein S5 pseudogene LOC345818 5q23.3 similar to RNA binding motif protein 15; one twenty two protein MEGF10 5q33 MEGF10 protein LOC389322 5 similar to heterogeneous nuclear ribonucleoprotein K LOC133619 5q23.3 hypothetical protein MGC12103 LOC391831 5 similar to Cullin homolog 1 (CUL-1) LOC389323 5 similar to hypothetical protein LOC389324 5 LOC389324 SLC12A2 5q23.3 solute carrier family 12 (sodium/potassium/chloride transporters), member 2 FBN2 5q23-q31 fibrillin 2 (congenital contractural arachnodactyly) SLC27A6 5q23.3 solute carrier family 27 (fatty acid transporter), member 6 CGI-111 5q22.1-q33.3 CGI-111 protein ADAMTS19 5q31 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19 CSS3 5q31.1 chondroitin sulfate synthase 3 LOC133629 5q31.1 similar to ribosomal protein L11 LOC133628 5q31.1 similar to splicing factor 4 isoform a; RNA-binding protein
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
26 - 7689 - 1140 - 2007 17498693
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   predominantly Homo sapiens
 brainlimbic systemhippocampus   Homo sapiens
 brainforebraincerebral cortex   Homo sapiens
 spinal cord     Homo sapiens
Visualeyeretina    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmooth   
cells
SystemCellPubmedSpeciesStageRna symbol
Visualamacrine cell Homo sapiens
Visualhorizontal association cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • overall domain organization of Ced-1, with a signal peptide
  • a EMI domain
  • 17 atypical EGF-like domains in extracellular region , each of which contains eight cysteine residues that likely form disulfide bonds
  • a transmembrane domain
  • a cytoplasmic domain with NPXY and YXXL motifs , and NPxY and YxxL motifs are crucial for cellular uptake of Abeta42
  • HOMOLOGY
    interspecies ortholog to of nematode CED-1, a transmembrane protein involved in engulfment of apoptotic corpses (PMID: 17498693)
    Homologene
    FAMILY
  • MEGF10 family
  • CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type I transmembrane protein
    basic FUNCTION
  • induces large vacuole formation
  • with apoptotic cells, accumulated around the contact region during engulfment of apoptotic cells
  • epidermal growth factor repeat transmembrane protein, quiescent satellite cell marker that is also expressed in skeletal myoblasts but not in differentiated myofibers
  • represents a novel transmembrane protein that impinges on Notch signaling to regulate the satellite cell population balance between proliferation and differentiation
  • PEAR1 an engulfment receptor, and MEGF10, a purported engulfment receptor are expressed in fibroblasts, and facilitated binding to dead neurons
  • involved in the uptake of amyloid-beta peptide (Abeta42) in the brain
  • functional receptor that mediates the uptake of APP, which will help elucidate the molecular mechanisms of amlyoid-beta clearance in Alzheimer disease
  • it is possible that MEGF10 is involved in clearance of Abeta which was formed in cerebral cortex and hippocampus regions at old age
  • highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers
  • MEGF10 and MEGF11, have critical roles in the formation of mosaics by two retinal interneuron subtypes, starburst amacrine cells and horizontal cells
  • can act as a ligand that signals to starburst amacrine cells (SACs), and horizontal cells (HCs)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complex MEGF10-EGFP localized throughout the cytoplasmic membrane
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between MEGF10 and clathrin assembly protein complex 2 medium chain (AP50), a component of clathrin-coated pits
  • cell & other
    REGULATION
    Other regulated by ABCA1 (function modulated by the ATP binding cassette transporter ABCA1, ortholog to CED-7)
    ASSOCIATED DISORDERS
    corresponding disease(s) EMARDD
    Susceptibility to schizophrenia
    Variant & Polymorphism other major allele and 1/1 genotype at rs27388 impose higher risks for the schizophrenia
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS