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Summary Expression Gene Literature (2) GO Terms (37) Nucleotides (43) Proteins (23) Interactants (8) Wiki
XB-GENEPAGE-6030742
Gene Symbol:
gabrb3

Gene Name:
gamma-aminobutyric acid (GABA) A receptor, beta 3

Synonyms:
eca5 ( Add synonyms , Nomenclature history )

Gene Function:
GABA receptor

Protein Function :
Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide.



Interactants:
Loading ...

Diseases: 


Disease Ontology:
Lennox-Gastaut syndrome [+]

OMIM:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5 [+]

External Links:
 
Xenbase Gene ID XB-GENE-6030743 XB-GENE-17339842 XB-GENE-17339843
Gene Symbol gabrb3 gabrb3.L gabrb3.S
Chromosome Chr2 chr2L chr2S
Molecules X. tropicalis X. laevis.L X. laevis.S
Genomic Sequence Version 10.0 Version 9.1 Version 9.1
CDS Gene model Gene model
Entrez Gene 100124708
108709724
mRNA NCBI Nucleotide NCBI Nucleotide
Protein NCBI Protein RefSeq  More.. NCBI Protein TrEMBL
Genomic
X. tropicalis X. laevis.L X. laevis.S
Genome Browser
(Click image to open in Genome Browser)
Genomic Synteny Genomicus PANTHER
Expression                  Development Stages    Embryonic TissuesAdult Tissues
Summary for
More Information
Xenbase Expression Details In situ images Single cell data at SPRING Ensembl In situ: Single cell: RNA-Seq:
Data Mining X. tropicalis X. laevis.L X. laevis.S
XenMine gabrb3 gabrb3.L gabrb3.S
Orthology
Knowledgebases Entrez Gene Genetic Phenotypes Gene Expression
human
HGNC AGR, OMIM:Gene, GeneCards GABRB3 OMIM Ensembl, Allen Brain Atlas, Protein Atlas
mouse
MGI, AGR Gabrb3 MGI, IMPC Ensembl, Allen Brain Atlas, Eurexpress, MGI
rat
RGD, AGR Gabrb3 Ensembl
zebrafish
ZFIN, AGR gabrb3 ZFIN Ensembl
chicken
GEISHA GABRB3 Ensembl
fruit fly
worm
Publications
First Functional characterization of the new human GABA(A) receptor mutation beta3(R192H)., Hum Genet 2002  
Most Recent Mutations in GABRB3: From febrile seizures to epileptic encephalopathies., Neurology 2017  
All View All Papers 1 paper(s) referencing OMIMs 1 paper(s) referencing Disease Ontology
Functional Ontologies X. tropicalis X. laevis.L X. laevis.S
GO 37 terms 0 term 7 terms
PANTHER gabrb3
KEGG Pathways K05181 K05181
KOG [T] GABA receptor (alt_id KOG:3643)
Reagents X. tropicalis X. laevis.L X. laevis.S
CRISPRscan Tracks gabrb3
Clones Horizon Source BioScience Horizon
Plasmids Addgene Addgene

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