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FLASH GENE
Symbol MEGF6 contributors: mct - updated : 22-03-2020
HGNC name multiple EGF-like-domains 6
HGNC id 3232
Location 1p36.32      Physical location : 3.404.512 - 3.528.059
Synonym name
  • multiple epidermal growth factor-like motif 6
  • EGF-like-domain, multiple 3
  • Synonym symbol(s) EGFL3, KIAA0815
    DNA
    TYPE functioning gene
    STRUCTURE 136.82 kb     37 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 - 7443 - 1541 - 2018 29719292
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three calcium binding type EGF-like motifs
  • 30 EGF-like domains containing two additional cysteine residues
  • HOMOLOGY
    Homologene
    FAMILY MEGF (multiple EGF-like domains) protein family
    CATEGORY secretory , protooncogene
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • may serve as an oncogene to promote cell proliferation and inhibit apoptosis
  • can also accelerate cell migration via TGFB1/SMAD signaling-mediated EMT
  • is dispensable for embryonic development
  • MEGF6-expressing cells contribute to the periotic mesenchyme and its derivatives, skin epidermis, certain cells in brain and ribs
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to SAPHO syndrome
    Variant & Polymorphism other
  • association between CNV in MEGF6, and SAPHO syndrome
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS