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FLASH GENE
Symbol GABRB2 contributors: mct - updated : 18-11-2016
HGNC name gamma-aminobutyric acid (GABA) A receptor, beta 2
HGNC id 4082
Corresponding disease
SMEI4 severe myoclonic epilepsy of infancy 4
Location 5q34      Physical location : 160.715.435 - 160.975.130
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
STRUCTURE 259.70 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map see GABRA1
Physical map
LOC348938 5q33.3 hypothetical protein LOC348938 ADAM19 5q32-q33 a disintegrin and metalloproteinase domain 19 (meltrin beta) SOX30 5q33 a disintegrin and metalloproteinase domain 19 (meltrin beta) LOC389341 5 similar to RIKEN cDNA 4921536K21 FLJ20546 5q33.3 hypothetical protein FLJ20546 LSM11 5q33.3 U7 snRNA-associated Sm-like protein ENTH 5q23.1-q33.3 U7 snRNA-associated Sm-like protein LOC391843 5 similar to 60S acidic ribosomal protein P2 LOC345471 5q33.3 similar to Hsp90 co-chaperone Cdc37 (Hsp90 chaperone protein kinase-targeting subunit) (p50Cdc37) LOC285721 5q33.3 hypothetical LOC285721 EBF 5q34 early B-cell factor FLJ31951 5q33.3 hypothetical protein FLJ31951 MGC10067 5q33.3 hypothetical protein MGC10067 IL12B 5q31.1-q33.1 interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) ADRA1B 5q33.1 adrenergic, alpha-1B-, receptor TTC1 5q32-q33.2 tetratricopeptide repeat domain 1 KIAA1935 5q34 KIAA1935 protein FABP6 5q23-q35 fatty acid binding protein 6, ileal (gastrotropin) FLJ14166 5q34 hypothetical protein FLJ14166 C1QTNF2 5q33.3 C1q and tumor necrosis factor related protein 2 LOC63920 5q34 transposon-derived Buster3 transposase-like SLU7 5q34 step II splicing factor SLU7 PTTG1 5q35.1 pituitary tumor-transforming 1 FLJ21477 5q34 hypothetical protein FLJ21477 GABRB2 5q33.1-q34 gamma-aminobutyric acid (GABA) A receptor, beta 2 GABRA6 5q33.1-q33.2 gamma-aminobutyric acid (GABA) A receptor, alpha 6 GABRA1 5q33.2 gamma-aminobutyric acid (GABA) A receptor, alpha 1 GABRG2 5q31.3-q33.2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 MRP63P6 5q34 mitochondrial ribosomal protein 63 pseudogene 6 CCNG1 5q32-q34 cyclin G1 LOC134492 5q34 similar to RIKEN cDNA 2700047N05 HMMR 5q33.3 hyaluronan-mediated motility receptor (RHAMM) MAT2B 5q34-q35.1 methionine adenosyltransferase II, beta LOC391844 5 similar to beta-tropomyosin LOC391845 5 similar to ribosomal protein S15
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 7295 - 474 - 2014 25241062
11 - 7409 - 512 - 2014 25241062
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a ligand binding site in the N terminal region
  • four transmembrane segments (4TM)
  • one of which forming the wall of the channel
  • a large intracellular loop, and a gephyrin-binding motif in the large cytoplasmic loops
  • HOMOLOGY
    interspecies homolog to murine gabrb2
    Homologene
    FAMILY ligand gated ion channel family
    CATEGORY enzyme , receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION major inhibitory neurotransmitter receptor in the brain
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of a pentameric receptor mediating inhibitory neurotransmission
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SMEI4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    contribute to neurological and developmental dysfunction
    Susceptibility
  • to psychosis, the core symptom and an endophenotype of schizophrenia
  • to epilepsy susceptibility
  • to Developmental and epileptic encephalopathy (DEE)
  • Variant & Polymorphism other
  • heterozygous missense variant in exon 4 of GABRB2 (c.236T>C; p.M79T)associated with intellectual disability and epilepsy
  • SNP in GABRB2 associated with psychosis, the core symptom and an endophenotype of schizophrenia
  • involvement of beta (GABRB2) subunits of GABA(A) receptor in epilepsy susceptibility
  • de novo missense variants, p.Thr287Pro, has been found to reduce cell-surface expression and peak current amplitudes of GABAA channels, and can cause a DEE
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS