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Gabrb3
Gene Detail
Symbol

Name
ID
Gabrb3
gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
MGI:95621
Synonyms
A230092K12Rik, beta3, Gabrb-3
Feature Type
protein coding gene
Genetic Map
Chromosome 7
33.53 cM
Detailed Genetic Map ± 1 cM


Mapping data(15)
Sequence Map
Chr7:57590518-57828802 bp, + strand
From VEGA annotation of GRCm38

  238285 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:633  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Gabrb3

Human
homologs
Human Homolog GABRB3, gamma-aminobutyric acid (GABA) A receptor, beta 3
NCBI Gene ID 2562
neXtProt AC  NX_P28472
Human Synonyms  ECA5
Human Chr (Location)  15q12; chr15:26543546-26773788 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human GABRB3
Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Gene trapped(2) Targeted(11) Transgenic(1)
Genomic Mutations involving Gabrb3 (3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mutants die at birth with cleft palate. Survivors show delayed growth, reduced lifespan, seizures, ataxia, hyperactivity, hyperresponsiveness and reduced learning, mothering ability and REM sleep. A point mutation lowers anesthetic effect.
 
Human Diseases Modeled Using Mouse Gabrb3 (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Gabrb3 interacts with 437 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (48 annotations)
Process cellular response to histamine, chloride transmembrane transport, ...
Component cell junction, chloride channel complex, ...
Function AP-2 adaptor complex binding, chloride channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (16 records)
Data Summary: Results (140)    Tissues (51)    Images (50)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 11
RNA in situ 106
Northern blot 14
RT-PCR 9
cDNA source data(18)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(26) Genomic(3) cDNA(20) Primer pair(1) Other(2)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000031173 (Evidence)
Ensembl Gene ModelENSMUSG00000033676 (Evidence)
Entrez Gene14402 (Evidence)
DFCITC1581477, TC1598956
DoTSDT.111018108, DT.40170397, DT.97342321
NIA Mouse Gene IndexU129211
Consensus CDS ProjectCCDS21323.1, CCDS21324.1
International Mouse Knockout Project StatusGabrb3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031173 VEGA Gene Model | MGI Sequence Detail 238285 C57BL/6J ±  kb
transcript OTTMUST00000077240 VEGA | MGI Sequence Detail 5579 Not Applicable 
polypeptide OTTMUSP00000040804 VEGA | MGI Sequence Detail 473 Not Applicable 

For the selected sequences
All sequences(49) RefSeq(4) UniProt(5)
Polymorphisms
RFLP(7) : SNPs within 2kb(2941 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006028 Gamma-aminobutyric acid A receptor
InterPro IPR002289 Gamma-aminobutyric-acid A receptor, beta subunit
InterPro IPR006201 Neurotransmitter-gated ion-channel
InterPro IPR018000 Neurotransmitter-gated ion-channel, conserved site
InterPro IPR006202 Neurotransmitter-gated ion-channel ligand-binding
InterPro IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
Protein Ontology PR:000007774 gamma-aminobutyric acid receptor subunit beta-3
References
(Earliest) J:2967 Wagstaff J, et al., The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. Genomics. 1991 Dec;11(4):1071-8
(Latest) J:204135 Luo R, et al., Distinct roles of synaptic and extrasynaptic GABAAreceptors in striatal inhibition dynamics. Front Neural Circuits. 2013;7:186
All references(107)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-26107, MGD-MRK-9935, MGD-MRK-9938, MGI:2444282, MGI:3034342

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory