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FLASH GENE
Symbol EGFLAM contributors: mct/npt - updated : 30-12-2020
HGNC name EGF-like, fibronectin type III and laminin G domains
HGNC id 26810
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • laminin G and EGF-like domains
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
    text localized to the synaptic cleft in the photoreceptor ribbon synapse
    basic FUNCTION
  • plays an important role in interactions between the photoreceptor ribbon synapse and bipolar dendrites
  • extracellular matrix-like retinal protein, dystroglycan-interacting protein and has an essential role in the precise interactions between the photoreceptor ribbon synapse and the bipolar dendrites
  • required for apposition of bipolar dendrite, and for synaptic signal transmission
  • functioning specifically in photoreceptor-bipolar synaptic apposition
  • involved in defective photoreceptor synaptic function associated with congenital muscular dystrophies such as muscle-eye-brain disease
  • might play a crucial role in promoting glioblastoma progression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • colocalized with both dystrophin and dystroglycan at the ribbon synapses
  • dystroglycan ligand in the retina
  • EGFLAM promoted the proliferation, migration and invasion of GBM cells via the activation of PI3K/AKT pathway
  • LRRTM4 is implicated in the GPR179-pikachurin-dystroglycan transsynaptic complex at rod synapses
  • cell & other
    REGULATION
    Other regulated by OTX2
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to true aortic aneurysm
    Variant & Polymorphism SNP
  • rs1465567 [T/C (W229R)] of EGFLAM was significantly (P<0.0016) associated with true aortic aneurysm
  • Candidate gene
    Marker
  • might be a prognostic biomarker for glioblastoma (GBM)
  • could be a specific hypomethylated tumor markers in ovarian cancer
  • Therapy target
    SystemTypeDisorderPubmed
    cancerbrainglioma/neuroblstoma
    might be a therapeutic target for glioblastoma (GBM)
    ANIMAL & CELL MODELS