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FLASH GENE
Symbol GABRB3 contributors: mct - updated : 18-11-2016
HGNC name gamma-aminobutyric acid (GABA) A receptor, beta 3
HGNC id 4083
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a ligand binding site in the N terminal region, and N-terminus of GABRB3 could be important for GABRB3 regulation in development, and its alteration could produce childhood absence epilepsy
  • four transmembrane (4TM) segments
  • one of which forming the wall of the channel and a large intracellular loop, and a gephyrin-binding motif in the large cytoplasmic loops
    • HOMOLOGY
    Homologene
    FAMILY ligand gated ion channel family
    CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
    basic FUNCTION
  • mediating neuronal inhibition by binding to theGABA/benzodiazepine receptor and opening an integral chloride channel
  • potential role of GABRB3 variation in the atypical sensory sensitivity in autism spectrum
  • might be associated with heroin dependence, and increased expression of GABRB3 might contribute to the pathogenesis of heroin dependence
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a pentameric receptor mediating inhibitory neurotransmission putatively
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other age-downregulated in the frontal cortex
    ASSOCIATED DISORDERS
    corresponding disease(s) AUTS4 , AS , DUP15QP , ECA5 , EIEE43
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    included in PWS/AS typically deleted region
    constitutional     --low  
    reduced expression could be one potential cause for the development of childhood absence epilepsy
    Susceptibility
  • to childhood absence epilepsy
  • to autism
  • to Asperger syndrome (APGS)
  • to epileptic encephalopathies (EEs)
    • Variant & Polymorphism SNP , other
  • mutation leading to gain in glycosylation and to absence seizures
  • SNPs (rs7180158, rs7165604, rs12593579) were significantly associated with APGS
    • Candidate gene the three GABA-A receptor subunit genes GABRB3, GABRB5, GABGRG3 are attractive candidate genes for idiopathic autism
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Gabrb3 null mice exhibit behaviours consistent with autism . in mice, heterozygous Gabrb3 deletion is associated with increased tactile sensitivity
  • dysregulation of Fmrp-Grm5 signaling pathway, accompanied with a downregulation of Gabrb3 expression, may contribute to the 'autistic-like' features observed in En2 mice