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FLASH GENE
Symbol EGFL6 contributors: mct - updated : 02-03-2012
HGNC name EGF-like-domain, multiple 6
HGNC id 3235
Location Xp22.2      Physical location : 13.587.693 - 13.651.693
Synonym name
  • MAM domain and EGF domain containing protein precursor
  • MAM and EGF domains-containing gene protein
  • epidermal growth factor-like protein 6
    • Synonym symbol(s) MAEG, W80, PP648
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 64.01 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - PRPS2 - DXS1224 - DXS16 - EGFL6 - DXS7167 - SEDL SEDL - DXS69E - OFD1 OFD1 OFD1 OFD1 - DXS414 - DXS6839 - DXS8022 - DXS1151 - cen
    Authors Buchner (00)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2448 - 554 - 2000 1077766
    12 - 2445 - 553 - 2000 1077766
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemplacenta   
    cell lineage
    cell lines lung tumor and meningioma cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text
  • lung, skin, umbilical cord, liver, spleen, kidney
  • expressed primarily in fetal tissues and during early development
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • secreted protein with five EGF repeats
  • three of them displaying the typical signature of the calcium binding EGF-like domain
  • a MAM domain believed to have adhesive function at the C terminus
  • two glycosylation site
  • an integrin association motif (RGD), that binds to integrins
  • a protein kinase C phosphorylation site
  • three hydroxylation sites, ATP/GDP binding site inside the MAM domain
    • HOMOLOGY
    intraspecies homolog to fibrillin
    Homologene
    FAMILY
  • nephronectin family
  • epidermal growth factor (EGF) repeat superfamily proteins
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • may play a role as a mediator regulating epithelial-mesenchymal interaction through binding to RGD-binding integrins including alpha8beta1 during hair follicle development
  • adipose tissue-secreted protein, and extra-cellular matrix protein
  • paracrine/autocrine growth factor of adipose tissue up-regulated in obesity and potentially involved in the process of adipose tissue expansion and the development of obesity
  • may play a role as a mediator regulating epithelial-mesenchymal interaction during hair follicle development
  • induces angiogenesis by a paracrine mechanism in which EGFL6 is expressed in osteoblastic-like cells but promotes migration and angiogenesis of endothelial cells
  • mediates a paracrine mechanism of cross-talk between osteoblastic-like cells and vascular endothelial cells to regulate angiogenesis in the bone local environment
  • produced by osteoblastic-like cells and plays a role in endothelial cells and angiogenesis
  • has a specific role in the induction of endothelial cell migration and angiogenesis through the activation of ERK pathway
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with integrins and regulates angiogenic activities
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker potential marker of malignancies
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticularboneostéoporosis
    might offer an important new target for the potential treatment of bone diseases, including osteonecrosis, osteoporosis, and fracture healing
    ANIMAL & CELL MODELS