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FLASH GENE
Symbol GABBR2 contributors: mct - updated : 27-09-2017
HGNC name gamma-aminobutyric acid (GABA) B receptor, 2
HGNC id 4507
Location 9q22.33      Physical location : 101.050.365 - 101.471.479
Synonym name
  • gamma-aminobutyric acid type B (GABA(B)) receptor subunit 2
  • G protein-coupled receptor 51
  • GABA-B receptor 2
  • Synonym symbol(s) GABABR2, HG20, GPRC3B, GABAB2, GPR51, FLJ36928, Gb2, GABA-B-R2, GBR2 HRIHFB2099
    DNA
    TYPE functioning gene
    STRUCTURE 421.12 kb     19 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map see HSN1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 5802 105 941 - 2001 11707323
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a large extracellular region
  • a long C terminal tail
  • HOMOLOGY
    intraspecies homolog to GABA B receptor
    Homologene
    FAMILY
  • G-protein coupled receptor 3 family
  • GABA-B receptor subfamily
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • inhibiting neuronal activity through G-protein coupled second-messenger systems, which regulate the release of neurotransmitters and the activity of ion channels and adenylyl cyclase
  • GABBR1, GABBR2 play an important role in modulating synapses and maintaining the balance of excitation-inhibition in the brain
  • GABBR1, GABBR2 play important functions in regulating synaptic plasticity
  • playing an important role in the etiology of nicotine addiction
  • GABBR1 is responsible for ligand-binding and GABBR2 is responsible for G protein coupling
  • GABBR1, GABBR2 are neurotransmitter receptors that modulate synaptic transmission by mediating the slow and prolonged responses to GABA
  • GABBR1, GABBR2 are expressed in human aortic smooth muscle cells and regulate the intracellular Ca(2+) concentration
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer with subunits of GABA(B1) and GABA(B2) in the human colon
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • coupling to adenyl cyclase
  • heteromeric association between CHRM2 and GABBR2 provides a possible mechanism for altering muscarinic signaling in the brain and represents a previously unrecognized role for GABBR2
  • physical and functional interaction between CACNA1D and GABBR2, suggesting the potential pivotal roles of CACNA1D in the CNS
  • post-transcriptional regulation of GABBR1, GABBR2 and KCNJ3 channels by RTN4R
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    significant reductions in GABBR1, GABBR2 density were demonstrated in the anterior and posterior cingulate cortex, suggesting that alterations in this key inhibitory receptor subtype may contribute to the functional deficits in individuals with autism
    Susceptibility
  • to nicotine dependence
  • to severe epileptic encephalopathies
  • to Developmental and epileptic encephalopathy (DEE)
  • Variant & Polymorphism other
  • causative role of GABBR2 mutations in severe epileptic encephalopathies
  • de novo missense mutations in GABBR2 have the potential to cause DEE
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS