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

Summary

Official Symbol: Gabrg2provided by MGI
Official Full Name: gamma-aminobutyric acid type A receptor, subunit gamma 2provided by MGI
Primary source: MGI:MGI:95623
See related: Ensembl:ENSMUSG00000020436 AllianceGenome:MGI:95623
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: 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]
Expression: Biased expression in cortex adult (RPKM 23.5), cerebellum adult (RPKM 23.4) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A5; 11 24.8 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (41801017..41891684, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (41910190..42000857, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

Neonatal inflammation via persistent TGF-beta1 downregulation decreases GABAAR expression in basolateral amygdala leading to the imbalance of the local excitation-inhibition circuits and anxiety-like phenotype in adult mice.
Title: Neonatal inflammation via persistent TGF-β1 downregulation decreases GABA(A)R expression in basolateral amygdala leading to the imbalance of the local excitation-inhibition circuits and anxiety-like phenotype in adult mice.
BDNF controls GABAAR trafficking and related cognitive processes via autophagic regulation of p62.
Title: BDNF controls GABA(A)R trafficking and related cognitive processes via autophagic regulation of p62.
Impaired State-Dependent Potentiation of GABAergic Synaptic Currents Triggers Seizures in a Genetic Generalized Epilepsy Model.
Title: Impaired State-Dependent Potentiation of GABAergic Synaptic Currents Triggers Seizures in a Genetic Generalized Epilepsy Model.
Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse model Gabrg2(+/Q390X) knockin: A link between genetic and acquired epilepsy?
Title: Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse model Gabrg2(+/Q390X) knockin: A link between genetic and acquired epilepsy?
these data demonstrate the molecular basis for a comorbidity of epilepsy, anxiety, and suggest that impaired GABAA receptor function in CeA due to a loss-of-function mutation could at least contribute to anxiety
Title: Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies.
deletion of Gabrg2 on dopamine cells induced several behavioral traits associated with high risk of developing alcoholism.
Title: Several behavioral traits relevant for alcoholism are controlled by ɣ2 subunit containing GABA(A) receptors on dopamine neurons in mice.
This study found that the inactivation of gamma2-mediated synapses does not impact oligodendrocyte precursors proliferation and differentiation or the propensity of oligodendrocyte precursors to myelinate their presynaptic interneurons.
Title: A specific GABAergic synapse onto oligodendrocyte precursors does not regulate cortical oligodendrogenesis.
The results of this study suggesting that mutations like GABRG2(Q390X) may alter brain thermal regulation and precipitate seizures during temperature elevations.
Title: Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2(+/Q390X) mice.
GABAA receptor (GABAAR) and the Na(+)-K(+)-2Cl(-) cotransporter (NKCC1), but not the K(+)-Cl(-) cotransporter (KCC2), were expressed in the terminals of the CRH neurons at the median eminence (ME). In contrast, CRH neuronal somata were enriched with KCC2 but not with NKCC1.
Title: A novel GABA-mediated corticotropin-releasing hormone secretory mechanism in the median eminence.
This study demonstrated that the reduced local input to fast-spiking interneurons in the somatosensory cortex in the GABAA gamma2 R43Q mouse model of absence epilepsy.
Title: Reduced local input to fast-spiking interneurons in the somatosensory cortex in the GABA(A) γ2 R43Q mouse model of absence epilepsy.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Variation

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Alleles

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

Targeted (14) 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

M62374 (e-PCR)
- UniSTS:124965

BB314104 (e-PCR)
- UniSTS:209237

Gabrg2 (e-PCR), detects polymorphism
- UniSTS:525655

AI851231 (e-PCR)
- UniSTS:163496

Gabrg2 (e-PCR), detects polymorphism
- UniSTS:233979

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to GABA receptor activity	ISO Inferred from Sequence Orthology more info
enables GABA-A receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables GABA-A receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables GABA-A receptor activity	ISO Inferred from Sequence Orthology more info
contributes_to GABA-gated chloride ion channel activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to GABA-gated chloride ion channel activity	ISO Inferred from Sequence Orthology 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 chloride channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables chloride channel activity	ISO Inferred from Sequence Orthology more info
enables extracellular ligand-gated monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor 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	IDA Inferred from Direct Assay more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to histamine	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway	IDA Inferred from Direct Assay more info	PubMed
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
involved_in inhibitory synapse assembly	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
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
involved_in synaptic transmission, GABAergic	ISO Inferred from Sequence Orthology more info
involved_in synaptic transmission, GABAergic	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of GABA receptor complex	ISO Inferred from Sequence Orthology more info
part_of GABA-A receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of GABA-A receptor complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of GABA-A receptor complex	ISO Inferred from Sequence Orthology more info
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in GABA-ergic synapse	IMP Inferred from Mutant Phenotype 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
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
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in inhibitory synapse	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in postsynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic specialization membrane	ISO Inferred from Sequence Orthology more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor 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 gamma-2

Names: gamma-aminobutyric acid (GABA) A receptor, subunit gamma 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_001362655.1 → NP_001349584.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AL645751, BX284629

UniProtKB/TrEMBL

Q8C8H5

Conserved Domains (1) summary

cl27321
Location:50 → 453

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
NM_001362656.1 → NP_001349585.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 4 precursor

Status: VALIDATED

Source sequence(s)

AL645751, BX284629

UniProtKB/TrEMBL

Q8C8H5

Conserved Domains (1) summary

cl27321
Location:49 → 452

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
NM_008073.4 → NP_032099.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor

See identical proteins and their annotated locations for NP_032099.1

Status: VALIDATED

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, Q91V50, Q91VA8

UniProtKB/TrEMBL

Q8C8H5

Related

ENSMUSP00000063812.3, ENSMUST00000070735.10

Conserved Domains (2) summary

TIGR00860
Location:68 → 471

LIC; Cation transporter family protein

cd19000
Location:89 → 270

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
NM_177408.7 → NP_803127.3 gamma-aminobutyric acid receptor subunit gamma-2 isoform 2 precursor

Status: VALIDATED

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/TrEMBL

Q3UVW2

Related

ENSMUSP00000064739.5, ENSMUST00000070725.11

Conserved Domains (3) summary

TIGR00860
Location:68 → 463

LIC; Cation transporter family protein

pfam02931
Location:68 → 271

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:278 → 460

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

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_000077.7 Reference GRCm39 C57BL/6J

Range

41801017..41891684 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156333.1 → XP_036012226.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform X1

UniProtKB/TrEMBL

Q3UVW2

Conserved Domains (2) summary

TIGR00860
Location:50 → 445

LIC; Cation transporter family protein

cd19000
Location:71 → 252

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
XM_030245561.1 → XP_030101421.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform X2

UniProtKB/TrEMBL

Q3UVW2

Conserved Domains (2) summary

TIGR00860
Location:49 → 444

LIC; Cation transporter family protein

cd19000
Location:70 → 251

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma