Gene
gabra2a
- ID
- ZDB-GENE-141216-16
- Name
- gamma-aminobutyric acid type A receptor subunit alpha2a
- Symbol
- gabra2a Nomenclature History
- Previous Names
-
- si:dkey-52k1.6
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to contribute to GABA-A receptor activity; benzodiazepine receptor activity; and chloride channel activity. Predicted to be involved in several processes, including GABAergic synaptic transmission; chloride transmembrane transport; and gamma-aminobutyric acid signaling pathway. Predicted to localize to several cellular components, including GABA-A receptor complex; dendrite membrane; and postsynapse. Human ortholog(s) of this gene implicated in alcohol use disorder; autistic disorder; and early infantile epileptic encephalopathy. Is expressed in caudal fin; nervous system; neural tube; and tail bud. Orthologous to human GABRA2 (gamma-aminobutyric acid type A receptor subunit alpha2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Gonzalez-Nunez, 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| alcohol dependence | Alliance | {Alcohol dependence, susceptibility to} | 103780 |
| developmental and epileptic encephalopathy 78 | Alliance | Developmental and epileptic encephalopathy 78 | 618557 |
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 |
| Domain | IPR047023 | Gamma-aminobutyric acid receptor subunit alpha-2, extracellular domain |
| Domain | IPR047024 | Gamma-aminobutyric acid receptor subunit alpha 1-6, transmembrane domain |
| Family | IPR001390 | Gamma-aminobutyric-acid A receptor, alpha 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, alpha subunit | Gamma-aminobutyric acid A receptor/Glycine receptor alpha | Gamma-aminobutyric acid receptor subunit alpha 1-6, transmembrane domain | Gamma-aminobutyric acid receptor subunit alpha-2, extracellular domain | 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:E7F635
|
451 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gabra2a-201
(1)
|
Ensembl | 1,356 nt | ||
| mRNA |
gabra2a-202
(1)
|
Ensembl | 1,530 nt |
Interactions and Pathways
No data available
Plasmids
No data available