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FLASH GENE
Symbol EGFL7 contributors: mct/pgu - updated : 09-11-2013
HGNC name EGF-like-domain, multiple 7
HGNC id 20594
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel   specific Homo sapiens
Nervousbrain    
Reproductivemale systemprostate   
Respiratorylung    
Urinarykidney    
Visualeyeuveachoroid  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell Homo sapiens
cell lineage endothelial progenitor cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a signal sequence
  • an EMI domain domain at the N-terminus (domain present in a number of extracellular-matrix-associated proteins involved in regulating cell-adhesion)
  • two EGF-like domains and a leucine and valine-rich C-terminal region
  • HOMOLOGY
    interspecies homolog to murine Egfl7 (78.7pc)
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • playing a specific role in regulating vascular tubulogenesis
  • secreted factor implicated in cellular responses such as cell migration and blood vessel formation
  • acting as an antagonist of Notch signalling and affecting neural stem cell renewal
  • may protect endothelial cell from hyperoxia-induced apoptosis by inhibition of mitochondria-dependent apoptosis pathway
  • chemoattractant for endothelial cells, and its expression is restricted to endothelial cells
  • potentially regulates angiogenesis by an autocrine mechanism involving vasculature alone
  • its expression in tumors promotes tumor progression by reducing the expression of endothelial molecules that mediate immune cell infiltration
  • its function in blood vessel development is mediated, at least in part, through modulation of NOTCH signaling
  • role for EGFL7 in developmental and postnatal angiogenesis
  • extracellular matrix-associated protein expressed in activated endothelium
  • CELLULAR PROCESS cell migration & motility
    PHYSIOLOGICAL PROCESS development
    text blood vessel development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • binding transmembrane receptors of the Notch Family
  • CASZ1 is required to directly regulate an EGFL7/RhoA-mediated pathway to promote vertebrate vascular development
  • transcriptional pathway involving activation of EGFL7 gene by the transcription factor CASTOR (CASZ1) is required for blood vessel assembly and lumen morphogenesis
  • cell & other
    REGULATION
    activated by hypoxia that upregulates human coronary artery endothelial cells expression of EGFL7 and EGFL7 inhibits expression of intercellular adhesion molecule 1 subsequent to Hypoxia/reoxygenation (H/R) injury
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    significantly upregulated in human epithelial tumor tissues
    tumoral     --over  
    expression is significantly higher in invasive ductal than in invasive lobular breast carcinoma
    constitutional     --low  
    with ACVRL1 showed lower expression in early-onset pre-eclampsia versus late-onset pre-eclampsia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • potential biomarker for human epithelial tumors, especially hepatocellular carcinoma and breast cancer
  • Therapy target
    SystemTypeDisorderPubmed
    cancer  
    anti-EGFL7 antibodies enhance stress-induced endothelial cell death and anti-VEGF efficacy
    ANIMAL & CELL MODELS