Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GABRA2 contributors: mct - updated : 22-09-2020
HGNC name gamma-aminobutyric acid (GABA) A receptor, alpha 2
HGNC id 4076
Corresponding disease
EIEE78 epileptic encephalopathy, early infantile, 78
Location 4p12      Physical location : 46.251.580 - 46.392.056
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text clustered with genes encoding alpha 4, beta 1 and gamma 1 subunits of the GABA A receptor
STRUCTURE 145.59 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 2538 - 456 - 2018 29961870
10 - 2426 - 451 - 2018 29961870
9 - 2784 - 451 - 2018 29961870
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    Homo sapiens
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,
  • four transmembrane segments (4TM),one of which forming the wall of the channel and
  • a large intracellular loop
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • NPTN specifically co-localizes with GABRA1 and GABRA2 but not with GABRA3 subunits at GABAergic synapses
  • basic FUNCTION major inhibitory neurotransmitter in the vertebrate brain, mediating neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of a pentameric receptor mediating inhibitory neurotransmission
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ovarian cycle-related Progesterone and neurosteroids regulate GABRA2 expression in the hippocampus via a non-PGR pathway, which may be relevant to menstrual-cycle related brain conditions
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE78
    Susceptibility
  • susceptibility to alcohol dependence by modulating the level of neural excitation
  • Variant & Polymorphism other genetic variations in GABRA2 might play a role in the risk of alcohol use disorders by moderating the subjective effects of alcohol
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    psychiatry  
    may therefore represent a novel target for the development of more effective antidepressants
    ANIMAL & CELL MODELS
  • genetic inactivation of Gabra2 would generate a depressive-like phenotype in mice