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 : 04-02-2014
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
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)
Physical map
HBII-438A 15q11.2 HBII-438A C/D box snoRNA PWCR1 15q11.2 Prader-Willi syndrome chromosome region 1 X102 15q11.2 X102 protein IPW 15q11.2-q12 imprinted in Prader-Willi syndrome PAR1 15q11-q13 imprinted in Prader-Willi syndrome HBII-52 15q11.2 HBII-52 snoRNA PAR4 15q11.2 PAR4 gene HBII-438B 15q11.2 HBII-438B C/D box snoRNA UBE3A 15q11-q12 ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) ATP10A 15q11-q13 ATPase, Class V, type 10A MRPS18CP5 15q11.2 mitochondrial ribosomal protein S18C pseudogene 5 GABRB3 15q11.2-q12 gamma-aminobutyric acid (GABA) A receptor, beta 3 GABRA5 15q11.2-q12 gamma-aminobutyric acid (GABA) A receptor, alpha 5 LOC390550 15 LOC390550 GABRG3 15q11.2-q12 gamma-aminobutyric acid (GABA) A receptor, gamma 3 OCA2 15q11.2-q12 oculocutaneous albinism II (pink-eye dilution homolog, mouse)
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
Nervousbrain    
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
  • HOMOLOGY
    Homologene
    FAMILY ligand gated ion channel family
    CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    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
  • 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
    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)
  • 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