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FLASH GENE
Symbol GABRG2 contributors: mct - updated : 19-12-2017
HGNC name gamma-aminobutyric acid (GABA) A receptor, gamma 2
HGNC id 4087
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 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
  • eighty one SINE
  • nine LINE elements
    • HOMOLOGY
    Homologene
    FAMILY
  • ligand-gated ionic channel family
    • CATEGORY signaling neurotransmitter , receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • putatively involved in the physiological dependance on alcohol and in the maintenance of psychomotor disease states
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • complexing with DRD5 and promoting mutually inhibitory functional interactions between these receptor systems
  • component of a pentameric receptor mediating inhibitory neurotransmission
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GEFSP3 , EIEE74 , ECA2
    Susceptibility
    Variant & Polymorphism SNP seven SNP in the entire exon region
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS