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Gabrg2 gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 [ Mus musculus (house mouse) ]

Gene ID: 14406, updated on 8-May-2016
Official Symbol
Gabrg2provided by MGI
Official Full Name
gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2provided by MGI
Primary source
MGI:MGI:95623
See related
Ensembl:ENSMUSG00000020436 Vega:OTTMUSG00000006345
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
gamma2; GABAA-R; Gabrg-2
Summary
This gene encodes a gamma-aminobutyric acid (GABA)-A receptor subunit, which is a member of the ligand-gated ion channel family. GABA is the major inhibitory neurotransmitter in the adult central nervous system, and conversely exhibits an excitatory function during development. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. This gene encodes one of three gamma subunits in mammals, which contain the binding site for benzodiazepine drugs. Several mutations in this gene are associated with epileptic seizures, and genetic knockdown is associated with anxiety behavior. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Orthologs
Location:
11 A5; 11 24.8 cM
Exon count:
10
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 11 NC_000077.6 (41910190..42000840, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (41723697..41814180, complement)

Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene heat shock protein 1 (chaperonin), pseudogene 3 Neighboring gene predicted gene 12142 Neighboring gene uncharacterized LOC102637814 Neighboring gene gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1 Neighboring gene gamma-aminobutyric acid (GABA) A receptor, subunit alpha 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to GABA receptor activity ISO
Inferred from Sequence Orthology
more info
 
GABA-A receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
GABA-A receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
GABA-A receptor activity ISO
Inferred from Sequence Orthology
more info
 
chloride channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
chloride channel activity ISO
Inferred from Sequence Orthology
more info
 
extracellular ligand-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adult behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to histamine IDA
Inferred from Direct Assay
more info
PubMed 
chloride transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
chloride transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
chloride transport IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
ion transport IEA
Inferred from Electronic Annotation
more info
 
post-embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
synaptic transmission IDA
Inferred from Direct Assay
more info
PubMed 
synaptic transmission, GABAergic ISO
Inferred from Sequence Orthology
more info
 
transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA receptor complex ISO
Inferred from Sequence Orthology
more info
 
GABA-A receptor complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
axon 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
 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
dendrite membrane ISO
Inferred from Sequence Orthology
more info
 
inhibitory synapse ISO
Inferred from Sequence Orthology
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
gamma-aminobutyric acid receptor subunit gamma-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.

mRNA and Protein(s)

  1. NM_008073.3NP_032099.1  gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_032099.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1, also known as gamma 2L).
    Source sequence(s)
    AF233775, AL645751, BX284629
    Consensus CDS
    CCDS24551.1
    UniProtKB/Swiss-Prot
    P22723
    Related
    ENSMUSP00000063812, OTTMUSP00000065449, ENSMUST00000070735, OTTMUST00000014428
    Conserved Domains (3) summary
    pfam02931
    Location:68271
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:278468
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    TIGR00860
    Location:68471
    LIC; Cation transporter family protein
  2. NM_177408.6NP_803127.3  gamma-aminobutyric acid receptor subunit gamma-2 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2, also known as gamma 2S) is shorter, compared to isoform 1.
    Source sequence(s)
    AF233775, AK141129, AL645751, BX284629
    Consensus CDS
    CCDS24552.2
    UniProtKB/Swiss-Prot
    P22723
    Related
    ENSMUSP00000064739, OTTMUSP00000006692, ENSMUST00000070725, OTTMUST00000014426
    Conserved Domains (3) summary
    pfam02931
    Location:68271
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:278460
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    TIGR00860
    Location:68463
    LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000077.6 Reference GRCm38.p3 C57BL/6J

    Range
    41910190..42000840 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006532199.1XP_006532262.1  

    Conserved Domains (3) summary
    pfam02931
    Location:50253
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:260450
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    TIGR00860
    Location:50453
    LIC; Cation transporter family protein
  2. XM_006532200.2XP_006532263.1  

    Conserved Domains (3) summary
    pfam02931
    Location:49252
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:259449
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    TIGR00860
    Location:49452
    LIC; Cation transporter family protein

Alternate Mm_Celera

Genomic

  1. AC_000033.1 Alternate Mm_Celera

    Range
    45722004..45812247 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)