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 enable GABA-A receptor activity. Predicted to contribute to chloride channel activity. Predicted to be involved in chloride transmembrane transport. Predicted to act upstream of or within chloride transport and monoatomic ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of GABA-A receptor complex. Is expressed in brain and eye. Used to study epilepsy. Human ortholog(s) of this gene implicated in alcohol dependence; alcohol use disorder; childhood absence epilepsy; developmental and epileptic encephalopathy 43; and heroin dependence. Orthologous to human GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Griffin et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| epilepsy | gabrb3s3015/s3015 | standard conditions | Griffin et al., 2021 |
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 |
| 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
Plasmids
No data available