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
Comparative Information
Expression
All Expression Data
4 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Griffin et al., 2021
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
Human Disease Fish Conditions Citations
epilepsy gabrb3s3015/s3015 standard conditions Griffin et al., 2021
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
Homologous_superfamily IPR038050 Neuronal acetylcholine receptor
Domain Details Per Protein
Protein Length Gamma-aminobutyric-acid A receptor, beta subunit Gamma-aminobutyric acid A receptor/Glycine receptor alpha Neuronal acetylcholine receptor 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:A0A0R4ILP2 498
UniProtKB:A0A8M2BDH7 532
UniProtKB:A0A8M9PYR4 523
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA gabrb3-201 (1) Ensembl 3,594 nt
mRNA gabrb3-202 (1) Ensembl 812 nt
mRNA gabrb3-203 (1) Ensembl 3,174 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations