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    GABRA2 gamma-aminobutyric acid type A receptor alpha2 subunit [ Homo sapiens (human) ]

    Gene ID: 2555, updated on 5-Nov-2017
    Official Symbol
    GABRA2provided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor alpha2 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4076
    See related
    Ensembl:ENSG00000151834 MIM:137140; Vega:OTTHUMG00000044266
    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
    Summary
    GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
    Orthologs
    Location:
    4p12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (46243548..46390039, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (46246470..46392056, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SK small nuclear pseudogene 199 Neighboring gene gamma-aminobutyric acid type A receptor gamma1 subunit Neighboring gene RNA, U6 small nuclear 412, pseudogene Neighboring gene Rac family small GTPase 1 pseudogene 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Alcohol dependence
    MedGen: C0001973 OMIM: 103780 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 induces mucus formation through the NACHRA7/GABRA2 pathway in normal human bronchial epithelial cells PubMed
    env MUC5AC and GABRA2 are upregulated more strongly by HIV-1 X4- and X4/R5- than R5-tropic gp120 in normal human bronchial epithelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    • 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...
    • Taste transduction, organism-specific biosystem (from KEGG)
      Taste transduction, organism-specific biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
    • Taste transduction, conserved biosystem (from KEGG)
      Taste transduction, conserved biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
    • 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,...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ97076

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to GABA-A receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GABA-gated chloride ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    benzodiazepine receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gamma-aminobutyric acid signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neurotransmitter transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of neurotransmitter levels IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    GABA-A receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of synaptic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    gamma-aminobutyric acid receptor subunit alpha-2
    Names
    GABA(A) receptor subunit alpha-2

    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_012835.2 RefSeqGene

      Range
      4972..151492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000807.3NP_000798.2  gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor

      See identical proteins and their annotated locations for NP_000798.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (a). Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AB209295, AC104072, AF086092, BX108394, DA778940, DB478542, DN991770
      Consensus CDS
      CCDS3471.1
      UniProtKB/Swiss-Prot
      P47869
      UniProtKB/TrEMBL
      A0A024R9X6
      Related
      ENSP00000371033.4, OTTHUMP00000125268, ENST00000381620.8, OTTHUMT00000216879
      Conserved Domains (3) summary
      TIGR00860
      Location:25440
      LIC; Cation transporter family protein
      pfam02931
      Location:43250
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:257437
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    2. NM_001114175.2NP_001107647.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor

      See identical proteins and their annotated locations for NP_001107647.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC104072, AF086092, AK125179, BX108394
      Consensus CDS
      CCDS3471.1
      UniProtKB/Swiss-Prot
      P47869
      UniProtKB/TrEMBL
      A0A024R9X6
      Related
      ENSP00000348897.1, OTTHUMP00000125269, ENST00000356504.5, OTTHUMT00000216880
      Conserved Domains (3) summary
      TIGR00860
      Location:25440
      LIC; Cation transporter family protein
      pfam02931
      Location:43250
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:257437
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    3. NM_001286827.2NP_001273756.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform b

      See identical proteins and their annotated locations for NP_001273756.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' end and contains an alternate in-frame exon in the 3' end, which leads to the use of a downstream start codon compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus and contains an alternate segment compared to isoform a.
      Source sequence(s)
      AC104072, AF086092, AK293466, BX108394, DA778940, DB478542, DN991770
      UniProtKB/Swiss-Prot
      P47869
      Related
      ENSP00000444409.2, ENST00000540012.5
      Conserved Domains (2) summary
      pfam02931
      Location:16195
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:202442
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    4. NM_001330690.1NP_001317619.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and contains an alternate in-frame exon in the 3' coding region. The resulting isoform (c) has the same N- and C-termini, but contains an alternate segment compared to isoform a.
      Source sequence(s)
      AC104072, AF086092, AK293466, AK307128, BX108394, DA343351
      Consensus CDS
      CCDS82921.1
      UniProtKB/Swiss-Prot
      P47869
      UniProtKB/TrEMBL
      E9PBQ7

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      46243548..46390039 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513675.1XP_011511977.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_011511977.1

      UniProtKB/TrEMBL
      E9PBQ7
      Conserved Domains (3) summary
      TIGR00860
      Location:25500
      LIC; Cation transporter family protein
      pfam02931
      Location:43250
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:257497
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    2. XM_011513676.1XP_011511978.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

      Related
      ENSP00000427603.1, OTTHUMP00000219670, ENST00000507069.5, OTTHUMT00000363658
      Conserved Domains (3) summary
      TIGR00860
      Location:25500
      LIC; Cation transporter family protein
      pfam02931
      Location:43250
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:257497
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    3. XM_017007983.1XP_016863472.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X2

      UniProtKB/Swiss-Prot
      P47869
      UniProtKB/TrEMBL
      A0A024R9X6
      Conserved Domains (3) summary
      TIGR00860
      Location:25440
      LIC; Cation transporter family protein
      pfam02931
      Location:43250
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:257437
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    4. XM_017007982.1XP_016863471.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X2

      UniProtKB/Swiss-Prot
      P47869
      UniProtKB/TrEMBL
      A0A024R9X6
      Conserved Domains (3) summary
      TIGR00860
      Location:25440
      LIC; Cation transporter family protein
      pfam02931
      Location:43250
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:257437
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    5. XM_005248080.3XP_005248137.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X3

      See identical proteins and their annotated locations for XP_005248137.1

      Conserved Domains (2) summary
      pfam02931
      Location:16195
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:202382
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      46248463..46389517 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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