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FLASH GENE
Symbol NGEF contributors: mct - updated : 20-11-2010
HGNC name neuronal guanine nucleotide exchange factor
HGNC id 7807
Location 2q37.1      Physical location : 233.743.395 - 233.877.951
Synonym name
  • ephexin
  • Eph-interacting exchange protein
  • Synonym symbol(s) EPHEXIN, ARHGEF27
    DNA
    TYPE functioning gene
    STRUCTURE 134.55 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence   triplet
    text structure (CAA)n
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 3184 82.5 710 - 2000 10777665
    13 - 2812 - 618 - 2000 10777665
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    life cycle
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a pleckstrin homology (PH) domain
  • a DBL homology (DH) interacting with N-terminal helices to exclude and prevent activation of Rho GTPases
  • C-terminal SH3 domain
  • HOMOLOGY
    interspecies ortholog to murine Ngef
    intraspecies homolog to TIM
    Homologene
    FAMILY
  • Dbl family of oncogene
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • plays a role in axon guidance and is regulated by a switch mechanism that is specifically tailored to control Eph-mediated growth cone collapse
  • essential role in the maturation of AChR (acetylcholine receptor) clusters
  • indispensible role in regulating the structural maturation and neurotransmission of neuromuscular junctions
  • CELLULAR PROCESS cell cycle, checkpoint
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Rho GTPases (RAGs, ARHs, CDC42)
  • interacts with EPHA4 and mediate the effect of EPHA on the activity of Rho GTPases, key regulators of the cytoskeleton and axon guidance
  • cell & other
    REGULATION
    activated by tyrosine phosphorylation of a blocking helix
    Other regulated by fibroblast growth factor receptor-mediated tyrosine phosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Adult ephexin1(-/-) mice exhibit severe muscle weakness and impaired synaptic transmission at the neuromuscular junctions