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    GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 [ Homo sapiens ]

    Gene ID: 2566, updated on 19-May-2012
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    Summary

    Official Symbol
    GABRG2provided by HGNC
    Official Full Name
    gamma-aminobutyric acid (GABA) A receptor, gamma 2provided by HGNC
    Primary source
    HGNC:4087
    See related
    Ensembl:ENSG00000113327; HPRD:00663; MIM:137164; Vega:OTTHUMG00000130350
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAE2; ECA2; GEFSP3
    Summary
    This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    5q34
    Sequence :
    Chromosome: 5; NC_000005.9 (161494648..161582545)
    See GABRG2 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene glutaredoxin (thioltransferase) pseudogene 3 Neighboring gene gamma-aminobutyric acid (GABA) A receptor, alpha 1 Neighboring gene mitochondrial ribosomal protein 63 pseudogene 6 Neighboring gene cyclin G1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area. Polizzi A, et al. Childs Nerv Syst, 2012 Jan. PMID 22011963.
    2. New insight into the central benzodiazepine receptor-ligand interactions: design, synthesis, biological evaluation, and molecular modeling of 3-substituted 6-phenyl-4H-imidazo[1,5-a][1,4]benzodiazepines and related compounds. Anzini M, et al. J Med Chem, 2011 Aug 25. PMID 21751815.
    3. Modulation of human GABAA receptor function: a novel mode of action of drugs of abuse. Hondebrink L, et al. Neurotoxicology, 2011 Dec. PMID 21729720.
    4. Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. Lachance-Touchette P, et al. Eur J Neurosci, 2011 Jul. PMID 21714819.
    5. Temperature elevation increases GABA(A) -mediated cortical inhibition in a mouse model of genetic epilepsy. Hill EL, et al. Epilepsia, 2011 Jan. PMID 21219304.

    See all (91) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Drugs of abuse directly modulate activity of human alpha(1)beta(2)gamma(2) GABA(A) receptor.
      Title: Modulation of human GABAA receptor function: a novel mode of action of drugs of abuse.
    2. Mutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus was performed
      Title: Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area.
    3. Results report the identification of three novel mutations in two GABAA receptor subunits, GABRA1 and GABRG2, found in patients with idiopathic generalized epilepsy.
      Title: Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.
    4. Data indicate the selectivity of some selected compounds were assessed in recombinant alpha(1)beta(2)gamma(2)L, alpha(2)beta(1)gamma(2)L, and alpha(5)beta(2)gamma(2)L GABA(A) receptors.
      Title: New insight into the central benzodiazepine receptor-ligand interactions: design, synthesis, biological evaluation, and molecular modeling of 3-substituted 6-phenyl-4H-imidazo[1,5-a][1,4]benzodiazepines and related compounds.
    5. results from this study do not provide support for the hypothesis of linkage disequilibrium between the GABAA receptor-gamma2 gene and obsessive-compulsive disorder.
      Title: The GABA(A)-receptor γ2 (GABRG2) gene in obsessive-compulsive disorder.
    6. Internalization of GABA(A) receptor gamma2 is not associated with the cellular mechanism underlying febrile seizure genesis in patients with a missense mutation at this receptor.
      Title: Temperature elevation increases GABA(A) -mediated cortical inhibition in a mouse model of genetic epilepsy.
    7. GABRG2 subunit expression decreases with age in patient with pediatric epilepsy.
      Title: Impaired maturation of cortical GABA(A) receptor expression in pediatric epilepsy.
    8. this study further investigates the role of GABRG2 in the pathogenesis of childhood epilepsy
      Title: Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.
    9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Association of alpha subunit of GABAA receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population.
    10. These findings suggest that common variation in the GABRA2, GABRA3, GABRA6, and GABRG2 genes does not play a major role in liability to anxiety spectrum disorders.
      Title: Association study between GABA receptor genes and anxiety spectrum disorders.
    Submit: New GeneRIF Correction See all (53)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Dravet syndrome

    Epilepsy, childhood absence, susceptibility to, 2

    Epilepsy, generalized, with febrile seizures plus, type 3

    Febrilel, convulsions, familial, 8 611277

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P18507 P21918 DRD5    HPRD  PubMed  
    P18507 O95166 GABARAP    HPRD  PubMed  
    P18507 P18507 GABRG2    HPRD  PubMed  
    P18507 Q08209 PPP3CA    HPRD  PubMed  
    P18507 P17252 PRKCA    HPRD  PubMed  
    P18507 P05771 PRKCB    HPRD  PubMed  
    P18507 Q9NYG2 ZDHHC3    HPRD  PubMed  
    BioGRID:108840 BioGRID:108150 DRD5    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108840 BioGRID:116465 GABARAP    BioGRID  PubMed Affinity Capture-Western; Protein-peptide; Reconstituted Complex; Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • GABA A receptor activation, organism-specific biosystem (from REACTOME)
      GABA A receptor activation, organism-specific biosystemGABA B receptors are G protein coupled receptors that are activated by GABA binding to the B1 subunit and B2 subunit alters the activity of adenylate cyclase by interacting with the G alpha i/alpha 0...
    • GABA receptor activation, organism-specific biosystem (from REACTOME)
      GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Ligand-gated ion channel transport, organism-specific biosystem (from REACTOME)
      Ligand-gated ion channel transport, organism-specific biosystemLigand-gated ion channels (LGICs) are a group of transmembrane ion channels that are opened or closed in response to the binding of a chemical messenger (Purves, 2001).
    • Morphine addiction, organism-specific biosystem (from KEGG)
      Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Morphine addiction, conserved biosystem (from KEGG)
      Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
      Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
    • Nicotine addiction, organism-specific biosystem (from KEGG)
      Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
    • Nicotine addiction, conserved biosystem (from KEGG)
      Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
    • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
      Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
      Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GABA-A receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    benzodiazepine receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    chloride channel activity TAS
    Traceable Author Statement
    more info
    		  
    extracellular ligand-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    chloride transport TAS
    Traceable Author Statement
    more info
    		  
    gamma-aminobutyric acid signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    synaptic transmission TAS
    Traceable Author Statement
    more info
    		  
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    gamma-aminobutyric acid receptor subunit gamma-2
    Names
    gamma-aminobutyric acid receptor subunit gamma-2
    GABA(A) receptor, gamma 2
    GABA(A) receptor subunit gamma-2
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009290.1 RefSeqGene

      Range
      5001..92898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000816.3 → NP_000807.2  gamma-aminobutyric acid receptor subunit gamma-2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons, compared to variant 3. It encodes isoform 2 which is shorter than isoform 3.
      Source sequence(s)
      AC091984, BC069348, BC074795, DA226729
      Consensus CDS
      CCDS4358.1
      UniProtKB/Swiss-Prot
      P18507
      Related
      ENSP00000354651, OTTHUMP00000160874, ENST00000361925, OTTHUMT00000252706
      Conserved Domains (3) summary
      TIGR00860
      Location:69 – 464
      Blast Score: 698
      LIC; Cation transporter family protein
      pfam02931
      Location:69 – 272
      Blast Score: 504
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:279 – 461
      Blast Score: 411
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    2. NM_198903.2 → NP_944493.2  gamma-aminobutyric acid receptor subunit gamma-2 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC008611, AC091926, AC091984
      Consensus CDS
      CCDS47333.1
      UniProtKB/TrEMBL
      F5HB82
      Related
      ENSP00000410732, OTTHUMP00000224398, ENST00000414552, OTTHUMT00000374407
      Conserved Domains (3) summary
      TIGR00860
      Location:69 – 512
      Blast Score: 651
      LIC; Cation transporter family protein
      pfam02931
      Location:69 – 312
      Blast Score: 463
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:319 – 509
      Blast Score: 385
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    3. NM_198904.2 → NP_944494.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon, compared to variant 3. It encodes isoform 1 which is shorter than isoform 3.
      Source sequence(s)
      AC091984, BC052926, BC059389, DA226729
      Consensus CDS
      CCDS4359.1
      UniProtKB/Swiss-Prot
      P18507
      Related
      ENSP00000349000, OTTHUMP00000160873, ENST00000356592, OTTHUMT00000252705
      Conserved Domains (3) summary
      TIGR00860
      Location:69 – 472
      Blast Score: 696
      LIC; Cation transporter family protein
      pfam02931
      Location:69 – 272
      Blast Score: 504
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:279 – 469
      Blast Score: 385
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p5 Primary Assembly

      Range
      161494648..161582545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      156587110..156675113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC008611.6 (86512..113063) None
    genomic AC091926.4 (149850..193011) None
    genomic AC091984.3 (186962..205145) None
    genomic AF165124.1 AAD50273.1
    genomic CH471062.2 EAW61532.1
      EAW61533.1
      EAW61534.1
      EAW61535.1
    mRNA AK123394.1 None
    mRNA AK299640.1 BAG61563.1
    mRNA AK315200.1 None
    mRNA BC036030.1 None
    mRNA BC052926.1 None
    mRNA BC059389.1 AAH59389.1
    mRNA BC069348.1 AAH69348.1
    mRNA BC074795.2 AAH74795.1
    mRNA CD013896.1 None
    mRNA CD013897.1 None
    mRNA DA226729.1 None
    mRNA X15376.1 CAA33437.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P18507.2 GenPept UniProtKB/Swiss-Prot:P18507
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
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