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FLASH GENE
Symbol GRIA4 contributors: mct - updated : 24-01-2018
HGNC name glutamate receptor, ionotrophic, AMPA 4
HGNC id 4574
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ligand binding site in the N terminal region
  • four transmembrane segments (4TM)
  • one of which forming the wall of the channel
  • and a large intracellular loop
    • HOMOLOGY
    interspecies homolog to murine Gria4
    Homologene
    FAMILY ligand gated ion channel family
    CATEGORY protooncogene , receptor membrane
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • mediating the fast component of excitatory post synaptic currents in the central nervous system
  • predominant excitatory neurotransmitter receptors in the mammalian brain
  • likely involvement of the GRIA4 subunit in cognitive function
  • GRIA4 defines the signaling requirements for long-term potentiation (LTP) and silent synapse activation during a critical period of synapse development
  • is critical for neonatal long-term potentiation
  • GRIA4 enables likely efficient homeostatic upscaling and responsiveness to temporal activity patterns during the critical period of activity-dependent refinement of the circuitry
  • GRIA4-mediated activation of silent synapses is a critical mechanism facilitating the functional maturation of glutamatergic circuitry during the critical period of experience-dependent fine-tunin
  • GRIA4-containing AMPAR are expressed in epidermal keratinocytes, and pruritic and painful dermatopathologies have alterations in the keratinocyte expression levels of GRIA4-containing AMPAR
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein interacting with and signaling through the protein-kinase LYN
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDSGA
    Susceptibility to intellectual disability with or without seizures and gait abnormalities
    Variant & Polymorphism other
  • de novo, heterozygous pathogenic variants in GRIA4 are causative for ID with or without seizures and gait abnormalities
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Gria4 deficient mice provide a model of Absence epilepsy (AE)
  • GluR4 knockout mice showed mildly improved spatial working memory in the T-maze test