CHRNB2 Gene Summary [Human]
Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CHRNB2 |
| Official Name | cholinergic receptor nicotinic beta 2 subunit [Source:HGNC Symbol;Acc:HGNC:1962] |
| Ensembl ID | ENSG00000160716 |
| Bio databases IDs | |
| Aliases | cholinergic receptor nicotinic beta 2 subunit, acetylcholine receptor, nicotinic, beta 2 (neuronal) |
| Synonyms | Acrb-2, [b]2-nAchR, beta2 ACHR, beta2 nAChR, C030030P04Rik, cholinergic receptor nicotinic beta 2 subunit, cholinergic receptor nicotinic β 2 subunit, EFNL3, nAChRB2, nAChR beta2 subunit, nAChR β-2, nAChR β2 subunit, Nicotinic beta polypeptide 2, Nicotinic β polypeptide 2, β2 nAChR |
| 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 CHRNB2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- excitatory extracellular ligand-gated ion channel
- intracellular loop
- channel/pore class transporter
- extracellular ligand-gated ion channel
- Cation transporter family protein
- protein binding
- acetylcholine receptor
- neurotransmitter receptor
- binding protein
- LGIC_ECD
- Neurotransmitter-gated ion-channel transmembrane region
- Neurotransmitter-gated ion-channel ligand binding domain
- transmembrane domain
- ligand-gated ion channel
- acetylcholine binding
- transmembrane receptor
- cation channel
Pathways
Biological processes and signaling networks where the CHRNB2 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
- acute coronary syndrome
- schizophrenia
- depressive disorder
- alcoholism
- pulmonary hypertension
- renal failure
- hypertension
- systemic lupus erythematosus
- insomnia
- tobacco-related disorder
role in cell
- proliferation
- phosphorylation in
- transmembrane potential
- activation in
- number
- quantity
- binding
- activation
- function
- density
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
- Cytoplasm
- cell surface
- cellular membrane
- plasma membrane extracellular face
- presynaptic membrane
- synaptic membrane
- synaptosomes
- synapse
- membrane rafts
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHRNB2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- synaptic transmission, cholinergic
- synaptic transmission involved in micturition
- central nervous system projection neuron axonogenesis
- visual learning
- B cell activation
- lateral geniculate nucleus development
- associative learning
- learning
- memory
- regulation of dendrite morphogenesis
- optic nerve morphogenesis
- sensory perception of sound
- response to ethanol
- ion transport
- locomotory behavior
- response to hypoxia
- cognition
- smooth muscle contraction
- calcium ion transport
- neurological system process
- regulation of synaptic transmission, dopaminergic
- regulation of synapse assembly
- regulation of dopamine secretion
- social behavior
- regulation of excitatory postsynaptic membrane potential
- negative regulation of action potential
- behavioral response to nicotine
- signal transduction
- ion transmembrane transport
- response to cocaine
- regulation of circadian sleep/wake cycle, REM sleep
- synaptic transmission
- response to nicotine
- vestibulocochlear nerve development
- visual perception
- regulation of dopamine metabolic process
- positive regulation of B cell proliferation
- sensory perception of pain
- positive regulation of dopamine secretion
- membrane depolarization
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- membrane
- external side of plasma membrane
- synapse
- acetylcholine-gated channel complex
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- acetylcholine receptor activity
- protein binding
- ligand-gated ion channel activity
- acetylcholine-gated cation channel activity
- acetylcholine binding
- quaternary ammonium group binding