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 enable GABA-gated chloride ion channel activity and inhibitory extracellular ligand-gated monoatomic ion channel activity. Predicted to contribute to GABA-A receptor activity and benzodiazepine receptor activity. Predicted to be involved in several processes, including GABAergic synaptic transmission; chloride transmembrane transport; and gamma-aminobutyric acid signaling pathway. Predicted to act upstream of or within chloride transport and monoatomic ion transmembrane transport. Predicted to be located in cytoplasmic vesicle membrane and postsynaptic membrane. Predicted to be part of GABA-A receptor complex. Predicted to be active in dendrite membrane and postsynapse. Is expressed in caudal fin; nervous system; neural tube; and tail bud. Human ortholog(s) of this gene implicated in alcohol use disorder; autistic disorder; and developmental and epileptic encephalopathy 78. 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