Gene

gabrb3

ID
ZDB-GENE-101102-2
Name
gamma-aminobutyric acid type A receptor subunit beta3
Symbol
gabrb3 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Predicted to contribute to GABA-A receptor activity and chloride channel activity. Predicted to be involved in several processes, including chemical synaptic transmission; chloride transmembrane transport; and regulation of membrane potential. Predicted to localize to several cellular components, including GABA-A receptor complex; integral component of plasma membrane; and neuron projection. 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
Note
None
Expression
All Expression Data
1 figure from Cocco et al., 2017
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gabrb3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
developmental and epileptic encephalopathy 43 Alliance Developmental and epileptic encephalopathy 43 617113
{Epilepsy, childhood absence, susceptibility to, 5} 612269
Associated With gabrb3 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018000 Neurotransmitter-gated ion-channel, conserved site
Domain IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
Domain IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain
Family IPR002289 Gamma-aminobutyric-acid A receptor, beta subunit
Family IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
Family IPR006201 Neurotransmitter-gated ion-channel
Homologous_superfamily IPR036719 Neurotransmitter-gated ion-channel transmembrane domain superfamily
Homologous_superfamily IPR036734 Neurotransmitter-gated ion-channel ligand-binding domain superfamily
Domain Details Per Protein
Protein Length Gamma-aminobutyric-acid A receptor, beta subunit Gamma-aminobutyric acid A receptor/Glycine receptor alpha Neurotransmitter-gated ion-channel Neurotransmitter-gated ion-channel, conserved site Neurotransmitter-gated ion-channel ligand-binding domain Neurotransmitter-gated ion-channel ligand-binding domain superfamily Neurotransmitter-gated ion-channel transmembrane domain Neurotransmitter-gated ion-channel transmembrane domain superfamily
UniProtKB:F8W4K2 199
UniProtKB:A0A0R4ILP2 498
UniProtKB:E7EXG0 532
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations