Gene
gabrb2a
- ID
- ZDB-GENE-030131-8196
- Name
- gamma-aminobutyric acid type A receptor subunit beta2a
- Symbol
- gabrb2a Nomenclature History
- Previous Names
-
- gabrb2
- fj59e04
- si:ch211-215g18.1
- wu:fj59e04
- zgc:136311
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have GABA-A receptor activity and extracellular ligand-gated ion channel activity. Predicted to be involved in several processes, including chemical synaptic transmission; nervous system process; and regulation of membrane potential. Predicted to localize to integral component of plasma membrane; neuron projection; and synapse. Human ortholog(s) of this gene implicated in autistic disorder and infantile or early childhood epileptic encephalopathy 2. Is expressed in nervous system. Orthologous to human GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 92 | Alliance | Developmental and epileptic encephalopathy 92 | 617829 |
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:Q9DDD9
|
519 | |||||||||
|
UniProtKB:A0A8M2BKD0
|
472 | |||||||||
|
UniProtKB:A4FUK8
|
519 | |||||||||
|
UniProtKB:A0A8M1N6N1
|
519 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gabrb2-201
(1)
|
Ensembl | 3,200 nt | ||
| mRNA |
gabrb2-202
(1)
|
Ensembl | 907 nt | ||
| ncRNA |
gabrb2-002
(1)
|
Ensembl | 880 nt |
Interactions and Pathways
No data available
Plasmids
No data available