ZFIN ID: ZDB-GENE-101102-2
Gene Name: gamma-aminobutyric acid type A receptor subunit beta3
Gene Symbol: gabrb3    Nomenclature History

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 6 Mapping Details/Browsers
Description: Predicted to have neurotransmitter receptor activity. Predicted to be involved in several processes, including chemical synaptic transmission; nervous system process; and regulation of membrane potential. Predicted to localize to integral component of plasma membrane; neuron projection; and synapse. Is expressed in eye and telencephalon. Human ortholog(s) of this gene implicated in childhood absence epilepsy and early infantile epileptic encephalopathy 43. Orthologous to human GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3).
Genome Resources: Alliance (1),  Gene:566922 (1),  Ensembl(GRCz11):ENSDARG00000023771 (1)
GENE EXPRESSION
All Expression Data: text only from Cocco et al., 2017
Wild-type Stages, Structures: Adult (90d-730d, breeding adult) to Adult (90d-730d, breeding adult)
 
PHENOTYPE No data available
DISEASE ASSOCIATED WITH gabrb3 HUMAN ORTHOLOG
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
early infantile epileptic encephalopathy 43 Alliance Epileptic encephalopathy, early infantile, 43 617113
{Epilepsy, childhood absence, susceptibility to, 5} 612269
DISEASE ASSOCIATED WITH gabrb3 VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process ion transmembrane transport (more)
Cellular Component integral component of membrane (more)
Molecular Function extracellular ligand-gated ion channel activity (more)
GO Terms (all 20)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA gabrb3-201 (1)    Ensembl 3594
gabrb3-202 (1)    Ensembl 812
Browsers: NCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM gabrb3 No data available
MARKER RELATIONSHIPS
gabrb3 Contained in: [BAC] CH211-249A19 (1), DKEY-93P24 (1) (order this)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:XM_005166081 (1) 3652 nt
Genomic GenBank:CR405707 (1) 96706 nt
Select Tool
Polypeptide UniProtKB:E7EXG0 (1) 532 aa
Sequence Information (all 19)
ORTHOLOGY for gabrb3 ( Chr: 6 )
CITATIONS (23)