GABRA2 Gene Summary [Human]
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Details
| Type | Protein Coding |
| Official Symbol | GABRA2 |
| Official Name | gamma-aminobutyric acid type A receptor subunit alpha2 [Source:HGNC Symbol;Acc:HGNC:4076] |
| Ensembl ID | ENSG00000151834 |
| Bio databases IDs | |
| Aliases | gamma-aminobutyric acid type A receptor subunit alpha2, GABA(A) receptor, alpha 2 |
| Synonyms | C630048P16Rik, DEE78, EIEE78, Gaba A receptor alpha-2, GABA A receptor subunit alpha 2, GABA A receptor subunit α 2, Gaba A receptor α-2, gamma-aminobutyric acid type A receptor subunit alpha 2, α 2 gaba receptor, γ-aminobutyric acid type A receptor subunit alpha2, γ-aminobutyric acid type A receptor subunit α 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GABRA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GABA-A receptor
- intracellular loop
- transmembrane domain of Cys-loop neurotransmitter-gated ion channels
- channel/pore class transporter
- intracellular M3-M4 domain
- extracellular ligand-gated ion channel
- Cation transporter family protein
- protein binding
- benzodiazepine receptor
- ion channel
- anion channel
- neurotransmitter receptor
- LGIC_ECD
- Neurotransmitter-gated ion-channel transmembrane region
- Neurotransmitter-gated ion-channel ligand binding domain
- chloride channel
- ligand-gated ion channel
- intracellular domain
- loop domain
Pathways
Biological processes and signaling networks where the GABRA2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- weight gain
- hypertension
- hypercholesterolemia
- nonalcoholic fatty liver disease
- HIV infection
- cancer
- dental caries
- diabetes mellitus
- pain
- dementia
role in cell
- proliferation
- expression in
- activation in
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- synaptic vesicle membrane
- Cytoplasm
- postsynaptic region
- membrane surface
- cellular membrane
- presynaptic membrane
- synaptic membrane
- synaptosomes
- synapse
- perikaryon
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GABRA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of postsynaptic membrane potential
- synaptic transmission, GABAergic
- gamma-aminobutyric acid signaling pathway
Cellular Component
Where in the cell the gene product is active
- inhibitory synapse
- chloride channel complex
- dendrite membrane
- synaptic vesicle membrane
- synapse
- neuronal cell body
- neuron projection
- axon
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- GABA-A receptor activity
- chloride channel activity
- benzodiazepine receptor activity
- GABA-gated chloride ion channel activity