Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GABRB3 contributors: mct - updated : 18-11-2016
HGNC name gamma-aminobutyric acid (GABA) A receptor, beta 3
HGNC id 4083
Corresponding disease
AS Angelman syndrome
AUTS4 autism spectrum disorder, 4
DUP15QP chromosome 15 interstitial duplication involving the Prader-Willi/Angelman critical region
ECA5 epilepsy, childhood absence, 5
EIEE43 epileptic encephalopathy, early infantile, 43
Location 15q12      Physical location : 26.788.694 - 27.018.935
Synonym symbol(s) ECA5
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text clustered with GABRA5 and GABRG3
STRUCTURE 230.24 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map cen - D15S817 - D15S128 - D15S122 - GABRB3 - D15S97 - GABRA5 - D15S822 - D15S975 - D15S156 - D15S219 - D15S217 - D15S1048 - D15S165 - qter
Authors Bass (00)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 5783 - 473 - 1997 9126483
9 - 5733 - 473 - 1997 9126483
10 - 5889 - 388 - 1997 9126483
7 - 5581 - 388 - 1997 9126483
7 - 5641 - 402 - 1997 9126483
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary  highly
Nervousbrainhindbraincerebellum   Homo sapiens
Respiratorylung   highly
 respiratory tractlarynx  highly
Visualeyeretinafovea highly
 eyeretinamacula highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly Homo sapiens
Connectiveadipose  highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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