GABRB2 Gene Summary [Human]
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GABRB2 |
| Official Name | gamma-aminobutyric acid type A receptor subunit beta2 [Source:HGNC Symbol;Acc:HGNC:4082] |
| Ensembl ID | ENSG00000145864 |
| Bio databases IDs | |
| Aliases | gamma-aminobutyric acid type A receptor subunit beta2, GABA(A) receptor, beta 2 |
| Synonyms | C030002O17RIK, C030021G16Rik, DEE92, GABA-A, GABA A receptor B2, GABA A receptor subunit beta2, Gaba A receptor β-2, Gabrab2, gamma-aminobutyric acid type A receptor subunit beta 2, GARB2, ICEE2, γ-aminobutyric acid type A receptor subunit beta2, γ-aminobutyric acid type A receptor subunit β 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 GABRB2 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
- extracellular ligand-gated ion channel
- Cation transporter family protein
- protein binding
- ion channel
- GABA receptor
- anion channel
- LGIC_ECD
- GABA binding domain
- neurotransmitter receptor
- Neurotransmitter-gated ion-channel transmembrane region
- Neurotransmitter-gated ion-channel ligand binding domain
- transmembrane domain
- chloride channel
- ligand-gated ion channel
- intracellular domain
- loop domain
Pathways
Biological processes and signaling networks where the GABRB2 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
- disorder of coronary artery
- convulsion
- HIV infection
- Pneumocystosis jiroveci pneumonia
- seizures
- pain
- nausea
- bipolar I disorder
- amyotrophic lateral sclerosis
- sleep apnea syndrome
regulates
- GABA-A alpha5 beta gamma2,3
- GABA-A alpha3 beta gamma2,3
- piperidine-4-sulfonic acid
- chloride
- GABA-A alpha2 beta gamma2,3
- quinine
- GABRD
- GABA-A alpha4 beta gamma2,3
- GABA-A alpha1 beta gamma2,3
- saccharin
role in cell
- assembly
- development
- degeneration
- response by
- innervation
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
- glutaminergic synapse
- cell surface
- cellular membrane
- presynaptic membrane
- postsynaptic membrane
- synaptic membrane
- dendritic spines
- synapse
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GABRB2 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
- regulation of membrane potential
- cochlea development
- cellular response to histamine
- innervation
- synaptic transmission
- inner ear receptor cell development
- synaptic transmission, GABAergic
- gamma-aminobutyric acid signaling pathway
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- cytoplasmic vesicle membrane
- extracellular vesicular exosome
- synapse
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- GABA receptor activity
- GABA-A receptor activity
- neurotransmitter receptor activity
- chloride channel activity
- GABA-gated chloride ion channel activity