Gabrb3 GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gabrb3provided by MGI
Official Full Name: GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3provided by MGI
Primary source: MGI:MGI:95621
See related: Ensembl:ENSMUSG00000033676 AllianceGenome:MGI:95621
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: Cp1; beta3; Gabrb-3; A230092K12Rik
Summary: Enables GABA-A receptor activity and transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to GABA-gated chloride ion channel activity. Involved in several processes, including chloride transmembrane transport; inner ear development; and nervous system development. Acts upstream of or within several processes, including cellular response to zinc ion; circadian sleep/wake cycle, REM sleep; and learning or memory. Located in GABA-ergic synapse and plasma membrane. Part of GABA-A receptor complex. Is active in cell surface. Is expressed in several structures, including central nervous system; eye; jaw; and olfactory epithelium. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in childhood absence epilepsy and developmental and epileptic encephalopathy 43. Orthologous to human GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in frontal lobe adult (RPKM 26.3), cortex adult (RPKM 19.2) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B5; 7 33.53 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (57240266..57478550)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (57590518..57828802)

Chromosome 7 - NC_000073.7 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?

GABAA Receptor beta3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox-Gastaut Syndrome.
Title: GABA(A) Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox-Gastaut Syndrome.
Heterozygous GABAA receptor beta3 subunit N110D knock-in mice have epileptic spasms.
Title: Heterozygous GABA(A) receptor β3 subunit N110D knock-in mice have epileptic spasms.
Gabrb3 is required for the functional integration of pyramidal neuron subtypes in the somatosensory cortex.
Title: Gabrb3 is required for the functional integration of pyramidal neuron subtypes in the somatosensory cortex.
Gabrb3 endothelial cell-specific knockout mice display abnormal blood flow, hypertension, and behavioral dysfunction.
Title: Gabrb3 endothelial cell-specific knockout mice display abnormal blood flow, hypertension, and behavioral dysfunction.
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.
Loss of either GABAA receptors (GABAARs) or NMDA receptors (NMDARs) in primary afferents leads to tactile hypersensitivity across skin types, and loss of GABAARs, but not NMDARs, leads to impaired texture discrimination.
Title: Distinct Modes of Presynaptic Inhibition of Cutaneous Afferents and Their Functions in Behavior.
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 results suggest that impairment in GABRB3 downregulates OCA2 and indirectly causes ocular hypopigmentation and visual defects in Angelman syndrome (AS) and Prader-Willi syndrome
Title: Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.
In Gabrb3 mutant cerebellar nuclei cells, inhibitory postsynaptic current kinetics were unchanged, but mutant males, unlike females, showed enlarged glutamine receptor 1/5 responses and accelerated spontaneous firing.
Title: Sex differences in cerebellar synaptic transmission and sex-specific responses to autism-linked Gabrb3 mutations in mice.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Variation

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Alleles

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

Targeted (8) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW049585 (e-PCR)
- UniSTS:208134

NoName (e-PCR)
- UniSTS:484873

D1Wox53 (e-PCR)
- UniSTS:518968

GDB:192789 (e-PCR)
- UniSTS:155726

Gabrb3 (e-PCR), detects polymorphism
- UniSTS:525652

RH11160 (e-PCR)
- UniSTS:90465

RH137455 (e-PCR)
- UniSTS:219543

D1Wox53 (e-PCR)
- UniSTS:239560

MHAa84e6.seq (e-PCR)
- UniSTS:125386

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables AP-2 adaptor complex binding	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	IMP Inferred from Mutant Phenotype more info	PubMed
enables GABA-A receptor activity	ISO Inferred from Sequence Orthology more info	PubMed
contributes_to GABA-gated chloride ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables GABA-gated chloride ion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 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 extracellular ligand-gated monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables monoatomic ion channel activity	IDA Inferred from Direct Assay more info	PubMed
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 brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to histamine	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to zinc ion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cerebellum development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within chemical synaptic transmission, postsynaptic	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
acts_upstream_of_or_within circadian sleep/wake cycle, REM sleep	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cochlea development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within exploration behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway	ISO Inferred from Sequence Orthology more info	PubMed
involved_in gamma-aminobutyric acid signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hard palate development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within hard palate development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inhibitory postsynaptic potential	IMP Inferred from Mutant Phenotype 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
acts_upstream_of_or_within learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
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 motor behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of postsynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within reproductive behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to anesthetic	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
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-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
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	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in GABA-ergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in cell surface	IDA Inferred from Direct Assay more info	PubMed
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 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	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic membrane	ISO Inferred from Sequence Orthology 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
located_in terminal bouton	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 beta-3

Names: GABA(A) receptor subunit beta-3; cleft palate 1; gamma-aminobutyric acid (GABA) A receptor, subunit beta 3

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_001038701.2 → NP_001033790.1 gamma-aminobutyric acid receptor subunit beta-3 isoform b precursor

See identical proteins and their annotated locations for NP_001033790.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate exon at its 5' end and initiates translation at an alternate start codon compared to variant 1. The resulting protein (isoform b) is the same length but has a distinct N-terminus compared to isoform a.

Source sequence(s)

AC158300, AK083107

Consensus CDS

CCDS21323.1

UniProtKB/TrEMBL

F6ZYH6, Q8C446

Related

ENSMUSP00000143353.2, ENSMUST00000196198.5

Conserved Domains (1) summary

TIGR00860
Location:4 → 471

LIC; Cation transporter family protein
NM_008071.3 → NP_032097.1 gamma-aminobutyric acid receptor subunit beta-3 isoform a precursor

See identical proteins and their annotated locations for NP_032097.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AC158300, AK083051, AK147247

Consensus CDS

CCDS21324.1

UniProtKB/Swiss-Prot

P15433, P63080, Q3UHR3

UniProtKB/TrEMBL

F6ZYH6

Related

ENSMUSP00000038051.8, ENSMUST00000039697.14

Conserved Domains (1) summary

TIGR00860
Location:10 → 471

LIC; Cation transporter family protein