GABRR3 Gene Summary [Human]
The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]
Details
| Type | Protein Coding |
| Official Symbol | GABRR3 |
| Official Name | gamma-aminobutyric acid type A receptor subunit rho3 [Source:HGNC Symbol;Acc:HGNC:17969] |
| Ensembl ID | ENSG00000183185 |
| Bio databases IDs | |
| Aliases | gamma-aminobutyric acid type A receptor subunit rho3, GABA(A) receptor, rho 3 |
| Synonyms | gamma-aminobutyric acid type A receptor subunit rho 3, γ-aminobutyric acid type A receptor subunit rho 3 |
| 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 GABRR3 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
- transmembrane domain of Cys-loop neurotransmitter-gated ion channels
- channel/pore class transporter
- protein domain specific binding
- extracellular ligand-gated ion channel
- Cation transporter family protein
- 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
- transmembrane receptor
Pathways
Biological processes and signaling networks where the GABRR3 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.
binds
- diazepam
- quazepam
- temazepam
- nitrazepam
- triazolam
- estazolam
- midazolam
- flurazepam
- oxazepam
- adinazolam
disease
- tonic-clonic seizure
- complex partial seizure
- bipolar disorder
- schizophrenia
- dementia
- depressive disorder
- traumatic brain injury
- major depression
- gastroesophageal reflux
- pain
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
- cellular membrane
- postsynaptic membrane
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GABRR3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of membrane potential
- synaptic transmission
- gamma-aminobutyric acid signaling pathway
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- postsynaptic membrane
- synapse
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- neurotransmitter receptor activity
- GABA-A receptor activity
- chloride channel activity
- GABA-gated chloride ion channel activity