Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
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