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FLASH GENE
Symbol GRIA4 contributors: mct - updated : 24-01-2018
HGNC name glutamate receptor, ionotrophic, AMPA 4
HGNC id 4574
Location 11q22.3      Physical location : 105.480.799 - 105.852.819
Synonym name
  • DNA segment, single copy, probe GLUR4
  • AMPA-selective glutamate receptor 4
  • Synonym symbol(s) D11S2054, GLURD, GLR4, GLUR4C, GluA4
    DNA
    TYPE functioning gene
    STRUCTURE 368.65 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    text with flip and flop isoforms
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 113 - 36 widespread in the brain, and was upregulated with development in the cerebellum and cerebral cortex 1995 8589990
  • had a 113-bp insert containing a stop codon, resulting in a short C terminus
  • - - 5508 100.9 902 - 1995 8589990
    - - 5621 - 884 - 1995 8589990
    - - 3385 49.1 433 - 1995 8589990
    - - 3213 49.1 433 - 1995 8589990
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear    
    Nervousbrainlimbic systemhippocampus   Homo sapiensAdult
     brainhindbraincerebellum highly Homo sapiens
    Visualeyeretinafovea  
     eyeretinamacula  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermis   Mus musculus
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervouspyramidal cell Homo sapiensAdult
    Skin/Tegumentkeratinocyte Mus musculus
    cell lineage glioblastoma cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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)
    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