GABRA6 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. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | GABRA6 |
| Official Name | gamma-aminobutyric acid type A receptor subunit alpha6 [Source:HGNC Symbol;Acc:HGNC:4080] |
| Ensembl ID | ENSG00000145863 |
| Bio databases IDs | |
| Aliases | gamma-aminobutyric acid type A receptor subunit alpha6, GABA(A) receptor, alpha 6 |
| Synonyms | alpha6, GABA-ARalpha6, Gaba A receptor α-6, gamma-aminobutyric acid type A receptor subunit alpha 6, γ-aminobutyric acid type A receptor subunit alpha6, γ-aminobutyric acid type A receptor subunit α 6 |
| 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 GABRA6 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
- inhibitory extracellular ligand-gated ion channel
- 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
- benzodiazepine receptor
- ion channel
- anion channel
- LGIC_ECD
- neurotransmitter receptor
- binding protein
- Neurotransmitter-gated ion-channel transmembrane region
- Neurotransmitter-gated ion-channel ligand binding domain
- chloride channel
- ligand-gated ion channel
- intracellular domain
Pathways
Biological processes and signaling networks where the GABRA6 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
- rheumatoid arthritis
- treatment-resistant major depressive disorder
- non-small cell lung cancer
- hypertension
- renal cell cancer
- gastric cancer
- metastatic gastric cancer
- cardiovascular disorder
- renal failure
- Alzheimer disease
role in cell
- activation
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
- cellular membrane
- presynaptic membrane
- postsynaptic membrane
- synaptic membrane
- synapse
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GABRA6 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
- signal transduction
- synaptic transmission, GABAergic
- gamma-aminobutyric acid signaling pathway
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- dendrite membrane
- synapse
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- GABA-A receptor activity
- chloride channel activity
- benzodiazepine receptor activity
- GABA-gated chloride ion channel activity