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GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 [ Homo sapiens (human) ]

Gene ID: 2555, updated on 17-Feb-2015
Official Symbol
GABRA2provided by HGNC
Official Full Name
gamma-aminobutyric acid (GABA) A receptor, alpha 2provided by HGNC
Primary source
HGNC:HGNC:4076
See related
Ensembl:ENSG00000151834; HPRD:11747; 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
See GABRA2 in MapViewer
Location:
4p12
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (46244453..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 ribosomal protein L4 pseudogene Neighboring gene gamma-aminobutyric acid (GABA) A receptor, gamma 1 Neighboring gene ras-related C3 botulinum toxin substrate 1 pseudogene 2 Neighboring gene cytochrome c oxidase subunit VIIb2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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...
  • Orphan transporters, organism-specific biosystem (from REACTOME)
    Orphan transporters, organism-specific biosystemThis section contains known or putative transporters that are either directly involved in a transport process or, through their binding to other proteins, assist in a transport process (Purves 2001, ...
  • 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,...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ97076

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GABA-A receptor activity IEA
Inferred from Electronic Annotation
more info
 
benzodiazepine receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
chloride channel activity IEA
Inferred from Electronic Annotation
more info
 
extracellular ligand-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
neurotransmitter transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neurotransmitter levels IMP
Inferred from Mutant Phenotype
more info
PubMed 
synaptic transmission TAS
Traceable Author Statement
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
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
gamma-aminobutyric acid receptor subunit alpha-2
GABA(A) receptor subunit alpha-2
GABA(A) receptor, 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_012835.1 RefSeqGene

    Range
    5001..145482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_000798.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the same isoform as variant 2. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AB209295, AC095060, BX108394
    Consensus CDS
    CCDS3471.1
    UniProtKB/TrEMBL
    A0A024R9X6
    UniProtKB/Swiss-Prot
    P47869
    Related
    ENSP00000371033, OTTHUMP00000125268, ENST00000381620, 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_001114175.1NP_001107647.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor

    See proteins identical to NP_001107647.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR, as compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AK125179, BX108394
    Consensus CDS
    CCDS3471.1
    UniProtKB/TrEMBL
    A0A024R9X6
    UniProtKB/Swiss-Prot
    P47869
    Related
    ENSP00000348897, OTTHUMP00000125269, ENST00000356504, 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_001286827.1NP_001273756.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform b

    See proteins identical to 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)
    AK293466, BX108394, DB478542, DN991770
    UniProtKB/Swiss-Prot
    P47869
    Related
    ENSP00000444409, ENST00000540012
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38 Primary Assembly

    Range
    46244453..46390039
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714002.1XP_006714065.1  

    See proteins identical to XP_006714065.1

    UniProtKB/TrEMBL
    A0A024R9X6
    UniProtKB/Swiss-Prot
    P47869
    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. XM_005248080.1XP_005248137.1  

    See proteins identical to 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
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000136.1 Alternate HuRef

    Range
    45569699..45710166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)