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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
Location 5p13.2      Physical location : 38.258.532 - 38.465.581
Synonym name
  • pikachurin
  • EGF-like, fibronectin type-III and laminin G-like domain-containing protein
  • agrin-like protein
    • Synonym symbol(s) AGRNL, AGRINL, FLJ39155, PIKA
    DNA
    TYPE functioning gene
    STRUCTURE 206.92 kb     22 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 4720 - 1009 - 2008 18641643
    17 - 4163 - 775 - 2008 18641643
    12 - 3328 - 375 - 2008 18641643
    6 - 2217 - 152 - 2008 18641643
    23 - 4744 - 1017 - 2008 18641643
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   highly Homo sapiens
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemplacenta  highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothvessel   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text in developing photoreceptors
    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