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

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; inhibitory extracellular ligand-gated ion channel activity; and transmitter-gated 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 integral component of postsynaptic specialization membrane. Is active in GABA-ergic synapse. Is expressed in brain and lens. Human ortholog(s) of this gene implicated in 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, Apr 2022]
Expression: Biased expression in frontal lobe adult (RPKM 12.4), cortex adult (RPKM 8.1) and 5 other tissues See more
Orthologs: human all
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Genomic context

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A quantitative trait variant in Gabra2 underlies increased methamphetamine stimulant sensitivity.
Title: A quantitative trait variant in Gabra2 underlies increased methamphetamine stimulant sensitivity.
alpha2-containing gamma-aminobutyric acid type A receptors promote stress resiliency in male mice.
Title: α2-containing γ-aminobutyric acid type A receptors promote stress resiliency in male mice.
Phosphorylation on Ser-359 of the alpha2 subunit in GABA type A receptors down-regulates their density at inhibitory synapses.
Title: Phosphorylation on Ser-359 of the α2 subunit in GABA type A receptors down-regulates their density at inhibitory synapses.
here we demonstrate that direction selectivity in downstream ganglion cells remains remarkably unaffected when starburst dendrites are rendered non-directional, using a novel strategy combining a conditional GABAA alpha2 receptor knockout mouse with optogenetics
Title: Retinal direction selectivity in the absence of asymmetric starburst amacrine cell responses.
Gabra2-1 mice display spontaneous seizures during development, accompanied by early mortality
Title: Developmental seizures and mortality result from reducing GABA(A) receptor α2-subunit interaction with collybistin.
At a lower concentration of fluoxetine and its active metabolite norfluoxetine (that is in the therapeutic range), study observed anxiogenic- and depressive-like actions in alpha2 knock-out mice, but not in alpha2+/+ mice, suggesting that in 129x1/SvJ mice a decrease in alpha2-containing GABAARs promotes an increased sensitivity to the prodepressant-like effects of chronic fluoxetine treatment.
Title: Prodepressant- and anxiogenic-like effects of serotonin-selective, but not noradrenaline-selective, antidepressant agents in mice lacking α2-containing GABA(A) receptors.
Findings suggest that ovarian cycle-related progesterone and neurosteroids regulate alpha2-GABA-A receptor expression in the hippocampus via a non-progesterone receptor pathway, which may be relevant to menstrual-cycle related brain conditions.
Title: PR-independent neurosteroid regulation of α2-GABA-A receptors in the hippocampus subfields.
Results show that the expression levels of Gabra2, as well as of GABA receptor-mediated inhibitory neurotransmission, are reduced in Shank2 e6-7, but not in e7 KO mice compared with their own wild type littermates. Shank2 e6-7 KO mice treated with allosteric modulator for the GABAA receptor reverses spatial memory deficits, indicating that reduced inhibitory neurotransmission may cause memory deficits in Shank2.
Title: Enhancing inhibitory synaptic function reverses spatial memory deficits in Shank2 mutant mice.
role for: (i) H101 in species-typical binge-like drinking, (ii) Q241 in escalated chronic drinking, and (iii) S270 and/or L277 in the development of forced abstinence-associated social deficits
Title: Effects of Gabra2 Point Mutations on Alcohol Intake: Increased Binge-Like and Blunted Chronic Drinking by Mice.
Pharmological manipulation by clobazam, a common anticonvulsant with preferential affinity for the GABRA2 receptor, revealed dose-dependent protection against hyperthermia-induced seizures in Scn1a+/- mice. These findings support Gabra2 as a genetic modifier of the Scn1a+/- mouse model of Dravet syndrome.
Title: Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Variation

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Alleles

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

Spontaneous (1) 1 citation
Targeted (9) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gabra2 (e-PCR), detects polymorphism
- UniSTS:143149

Gabra2 (e-PCR), detects polymorphism
- UniSTS:143150

RH109434 (e-PCR)
- UniSTS:116812

Gabra2 (e-PCR), detects polymorphism
- UniSTS:525648

D5Buc19 (e-PCR), detects polymorphism
- UniSTS:525980

D5Buc15 (e-PCR), detects polymorphism
- UniSTS:142508

D5Buc16 (e-PCR), detects polymorphism
- UniSTS:142509

D5Buc17 (e-PCR), detects polymorphism
- UniSTS:142510

M86567 (e-PCR)
- UniSTS:179177

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-gated chloride ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-gated chloride ion channel activity	ISO Inferred from Sequence Orthology more info
contributes_to benzodiazepine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables benzodiazepine receptor activity	ISO Inferred from Sequence Orthology more info
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular ligand-gated monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	ISO Inferred from Sequence Orthology more info
enables monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chloride transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transport	IEA Inferred from Electronic Annotation more info
involved_in gamma-aminobutyric acid signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in inhibitory synapse assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in inhibitory synapse assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, GABAergic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of GABA-A receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of GABA-A receptor complex	ISO Inferred from Sequence Orthology more info
located_in GABA-ergic synapse	IC Inferred by Curator more info	PubMed
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in GABA-ergic synapse	ISO Inferred from Sequence Orthology more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite membrane	ISO Inferred from Sequence Orthology more info
located_in inhibitory synapse	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic specialization membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic specialization membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic active zone membrane	ISO Inferred from Sequence Orthology more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
part_of transmembrane transporter complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: gamma-aminobutyric acid receptor subunit alpha-2

Names: 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)

NM_001428488.1 → NP_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
NM_001428489.1 → NP_001415418.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC036145, AC161220
NM_008066.5 → NP_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:25 → 440

LIC; Cation transporter family protein

cd19035
Location:47 → 249

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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

71115735..71253192 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503733.5 → XP_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:25 → 440

LIC; Cation transporter family protein

cd19035
Location:47 → 249

LGIC_ECD_GABAAR_A2; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-2 (GABAAR-A2 or GABRA2)