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Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 [ Mus musculus (house mouse) ]

Gene ID: 14395, updated on 31-Dec-2024

Summary

Official Symbol
Gabra2provided by MGI
Official Full Name
gamma-aminobutyric acid type A receptor subunit alpha 2provided by MGI
Primary source
MGI:MGI:95614
See related
Ensembl:ENSMUSG00000000560 AllianceGenome:MGI:95614
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gabra-2; C630048P16Rik
Summary
Predicted to enable GABA-gated chloride ion channel activity; ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential; and transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Predicted to contribute to GABA-A receptor activity; benzodiazepine receptor activity; and chloride channel activity. Involved in inhibitory synapse assembly. Located in several cellular components, including dendrite; inhibitory synapse; and neuronal cell body. Is active in GABA-ergic synapse and postsynaptic specialization membrane. Is expressed in central nervous system and lens. Human ortholog(s) of this gene implicated in alcohol dependence; alcohol use disorder; autistic disorder; and developmental and epileptic encephalopathy 78. Orthologous to human GABRA2 (gamma-aminobutyric acid type A receptor subunit alpha2). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Biased expression in frontal lobe adult (RPKM 12.4), cortex adult (RPKM 8.1) and 5 other tissues See more
Orthologs
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Genomic context

See Gabra2 in Genome Data Viewer
Location:
5 C3.1; 5 37.59 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (71115735..71253192, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (70958392..71095849, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26072 Neighboring gene gamma-aminobutyric acid type A receptor subunit gamma 1 Neighboring gene STARR-seq mESC enhancer starr_13345 Neighboring gene STARR-seq mESC enhancer starr_13346 Neighboring gene STARR-seq mESC enhancer starr_13347 Neighboring gene STARR-seq mESC enhancer starr_13349 Neighboring gene STARR-seq mESC enhancer starr_13350 Neighboring gene STARR-seq mESC enhancer starr_13351 Neighboring gene STARR-seq mESC enhancer starr_13352 Neighboring gene cytochrome c oxidase subunit 7B2 Neighboring gene STARR-seq mESC enhancer starr_13353 Neighboring gene STARR-seq mESC enhancer starr_13354 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha 4 Neighboring gene gamma-aminobutyric acid type A receptor subunit beta 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

General gene information

Clone Names

  • MGC140832

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to GABA-A receptor activity  
enables GABA-A receptor activity  
enables GABA-gated chloride ion channel activity  
enables GABA-gated chloride ion channel activity  
contributes_to benzodiazepine receptor activity  
enables benzodiazepine receptor activity  
enables benzodiazepine receptor activity  
contributes_to chloride channel activity  
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential  
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential  
enables protein binding PubMed 
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential  
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential  
Process Evidence Code Pubs
involved_in chloride transmembrane transport  
involved_in chloride transmembrane transport  
involved_in gamma-aminobutyric acid signaling pathway  
involved_in gamma-aminobutyric acid signaling pathway  
involved_in inhibitory synapse assembly  
involved_in inhibitory synapse assembly PubMed 
involved_in regulation of postsynaptic membrane potential  
involved_in regulation of postsynaptic membrane potential  
involved_in regulation of presynaptic membrane potential  
involved_in synaptic transmission, GABAergic  
Component Evidence Code Pubs
part_of GABA-A receptor complex  
part_of GABA-A receptor complex  
is_active_in GABA-ergic synapse PubMed 
is_active_in GABA-ergic synapse  
located_in axon PubMed 
part_of chloride channel complex  
located_in dendrite PubMed 
is_active_in dendrite membrane  
located_in dendrite membrane  
located_in inhibitory synapse PubMed 
located_in neuronal cell body PubMed 
is_active_in postsynapse  
located_in postsynapse PubMed 
is_active_in postsynaptic specialization membrane PubMed 
is_active_in postsynaptic specialization membrane  
is_active_in presynaptic active zone membrane  
located_in synaptic vesicle membrane  
located_in synaptic vesicle membrane  

General protein information

Preferred Names
gamma-aminobutyric acid receptor subunit alpha-2
Names
GABAAR subunit alpha-2
gamma-aminobutyric acid (GABA) A receptor, subunit alpha 2

NCBI Reference Sequences (RefSeq)

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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_001428488.1NP_001415417.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC036145, AC161220
    UniProtKB/Swiss-Prot
    P26048
    UniProtKB/TrEMBL
    Q544G1
  2. NM_001428489.1NP_001415418.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC036145, AC161220
    UniProtKB/TrEMBL
    Q8C8J1
  3. NM_008066.5NP_032092.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_032092.1

    Status: VALIDATED

    Source sequence(s)
    AC036145, AC161220
    Consensus CDS
    CCDS19327.1
    UniProtKB/Swiss-Prot
    P26048
    UniProtKB/TrEMBL
    Q544G1
    Related
    ENSMUSP00000142892.2, ENSMUST00000197284.5
    Conserved Domains (2) summary
    TIGR00860
    Location:25440
    LIC; Cation transporter family protein
    cd19035
    Location:47249
    LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    71115735..71253192 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006503733.5XP_006503796.1  gamma-aminobutyric acid receptor subunit alpha-2 isoform X1

    See identical proteins and their annotated locations for XP_006503796.1

    UniProtKB/Swiss-Prot
    P26048
    UniProtKB/TrEMBL
    Q544G1
    Conserved Domains (2) summary
    TIGR00860
    Location:25440
    LIC; Cation transporter family protein
    cd19035
    Location:47249
    LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)
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