Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gabrb2provided by MGI
Official Full Name: gamma-aminobutyric acid type A receptor subunit beta 2provided by MGI
Primary source: MGI:MGI:95620
See related: Ensembl:ENSMUSG00000007653 AllianceGenome:MGI:95620
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: Gabrab2; Gabrb-2; C030002O17Rik; C030021G16Rik
Summary: Enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to GABA-gated chloride ion channel activity. Involved in inner ear development and nervous system development. Is active in GABA-ergic synapse and postsynaptic specialization membrane. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autistic disorder and developmental and epileptic encephalopathy 92. Orthologous to human GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in cerebellum adult (RPKM 18.5), cortex adult (RPKM 14.5) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A5; 11 25.08 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (42310342..42523418)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (42419515..42632591)

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:

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?

Gabrb2 knock-out mice exhibit double-directed PMDD-like symptoms: GABAAR subunits, neurotransmitter metabolism disruption, and allopregnanolone binding.
Title: Gabrb2 knock-out mice exhibit double-directed PMDD-like symptoms: GABAAR subunits, neurotransmitter metabolism disruption, and allopregnanolone binding.
Protrudin modulates seizure activity through GABAA receptor regulation.
Title: Protrudin modulates seizure activity through GABA(A) receptor regulation.
The results reveal that furin may regulate GABA-A receptors-mediated inhibitory synaptic transmission by altering the transcription of Gabrb2 and Gabrb3 subunits in epilepsy.
Title: Transgenic overexpression of furin increases epileptic susceptibility.
In inhibitory transmission onto hippocampal CA1 pyramidal cells, deletion of all beta subunits 1, 2, and 3 completely eliminated inhibitory responses. In addition, only knockout of beta3, alone or in combination with another beta subunit, impaired inhibitory synaptic transmission. expression of beta3 alone on the background of the beta1-3 subunit knockout was sufficient to restore synaptic and extrasynaptic inhibitory ...
Title: The GABA(A) Receptor β Subunit Is Required for Inhibitory Transmission.
These extensive schizophrenia-like and comorbid phenotypes brought about by Gabrb2 knockout, in conjunction with our previous findings on GABRB2 association with schizophrenia, support a pivotal role of GABRB2 in schizophrenia etiology.
Title: Gabrb2-knockout mice displayed schizophrenia-like and comorbid phenotypes with interneuron-astrocyte-microglia dysregulation.
Rebound potentiation is an input-specific plasticity that occurs only at basket cell-Purkinje cell inhibitory synapses and critically relies on GABAA receptors containing the beta2-subunit.
Title: Interneuron- and GABA(A) receptor-specific inhibitory synaptic plasticity in cerebellar Purkinje cells.
Gabrb2 receptor subunits are expressed in interneurons of the dentate gyrus along with alpha1 and delta subunits.
Title: The parvalbumin-positive interneurons in the mouse dentate gyrus express GABAA receptor subunits α1, β2, and δ along their extrasynaptic cell membrane.
The gamma2 subunits (of GABA A receptors) interacted with Beta2 subunit N-glycans and subdomains containing the glycosylation sites.
Title: Co-expression of γ2 subunits hinders processing of N-linked glycans attached to the N104 glycosylation sites of GABAA receptor β2 subunits.
In an epileptic stargazer mouse model, Gabrb2 receptor subunit expression in the ventral thalamus is increased.
Title: Altered thalamic GABAA-receptor subunit expression in the stargazer mouse model of absence epilepsy.
These studies identify a novel gephyrin-binding motif in GABA(A) R beta2 and beta3 large cytoplasmic loops.
Title: Direct binding of GABAA receptor β2 and β3 subunits to gephyrin.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gabrb2 (e-PCR), detects polymorphism
- UniSTS:506916

D11Mit308 (e-PCR), detects polymorphism
- UniSTS:126519

AI834970 (e-PCR)
- UniSTS:164459

D11Mit174 (e-PCR), detects polymorphism
- UniSTS:126369

11.MMHAP5FRD8.seq (e-PCR)
- UniSTS:123083

U14419 (e-PCR)
- UniSTS:125682

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	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-A receptor activity	ISO Inferred from Sequence Orthology more info
enables GABA-A receptor activity	ISS Inferred from Sequence or Structural Similarity 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
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables chloride channel activity	ISO Inferred from Sequence Orthology more info
enables chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables inhibitory extracellular ligand-gated monoatomic ion channel activity	ISO Inferred from Sequence Orthology more info
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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
involved_in cellular response to histamine	ISO Inferred from Sequence Orthology more info
involved_in cellular response to histamine	ISS Inferred from Sequence or Structural Similarity more info
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
involved_in chloride transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in cochlea development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gamma-aminobutyric acid signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in gamma-aminobutyric acid signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in gamma-aminobutyric acid signaling pathway	NAS Non-traceable Author Statement more info	PubMed
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
involved_in inner ear receptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in innervation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation 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	ISO Inferred from Sequence Orthology more info
part_of GABA-A receptor complex	ISS Inferred from Sequence or Structural Similarity more info
part_of GABA-A receptor complex	NAS Non-traceable Author Statement more info	PubMed
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
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 dendritic spine	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity 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
located_in postsynaptic specialization membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in presynaptic active zone membrane	ISO Inferred from Sequence Orthology more info

General protein information

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

Names: GABA(A) receptor subunit beta-2; GABAAR subunit beta-2; gamma-aminobutyric acid (GABA) A receptor, subunit beta 2; gamma-aminobutyric acid A receptor, subunit beta 2; gamma-aminobutyric acid receptor beta-2 subunit

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_001347314.3 → NP_001334243.1 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AL627444, AL645964

Consensus CDS

CCDS88146.1

UniProtKB/Swiss-Prot

A6H6R7, D1LYT3, P15432, P63137

Related

ENSMUSP00000141868.2, ENSMUST00000192403.2

Conserved Domains (1) summary

TIGR00860
Location:9 → 510

LIC; Cation transporter family protein
NM_001362646.2 → NP_001349575.1 gamma-aminobutyric acid receptor subunit beta-2 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AL627444, AL645964

Consensus CDS

CCDS24555.1

Conserved Domains (1) summary

TIGR00860
Location:9 → 472

LIC; Cation transporter family protein
NM_001362647.2 → NP_001349576.1 gamma-aminobutyric acid receptor subunit beta-2 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AL627444, AL645964

Consensus CDS

CCDS24555.1

Conserved Domains (1) summary

TIGR00860
Location:9 → 472

LIC; Cation transporter family protein
NM_001362649.2 → NP_001349578.1 gamma-aminobutyric acid receptor subunit beta-2 isoform 3

Status: VALIDATED

Source sequence(s)

AL627444, AL645964

Conserved Domains (1) summary

TIGR00860
Location:6 → 440

LIC; Cation transporter family protein
NM_008070.5 → NP_032096.1 gamma-aminobutyric acid receptor subunit beta-2 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AL627444, AL645964

Consensus CDS

CCDS24555.1

UniProtKB/Swiss-Prot

P63137

Related

ENSMUSP00000007797.5, ENSMUST00000007797.10

Conserved Domains (1) summary

TIGR00860
Location:9 → 472

LIC; Cation transporter family protein

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

42310342..42523418

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030245560.1 → XP_030101420.1 gamma-aminobutyric acid receptor subunit beta-2 isoform X1

UniProtKB/Swiss-Prot

A6H6R7, D1LYT3, P15432, P63137

Conserved Domains (1) summary

TIGR00860
Location:9 → 510

LIC; Cation transporter family protein