Summary of CHRNB2
The CHRNB2 gene encodes a part of a larger protein called a neuronal nicotinic acetylcholine receptor (nAChR). The receptor is needed for chemical signaling between nerve cells. The acetylcholine receptor channels are needed to help control sleep, fatigue, anxiety, attention, pain, and memory (R).
Mutations can cause epilepsy (R).
The Function of CHRNB2
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodiun ions.
Protein names
Recommended name:
Neuronal acetylcholine receptor subunit beta-2- RS2072660 (CHRNB2) ??
- RS2072661 (CHRNB2) ??
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Top Gene-Substance Interactions
CHRNB2 Interacts with These Diseases
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Substances That Increase CHRNB2
| Substances | Interaction | Organism | Category |
Substances That Decrease CHRNB2
| Substances | Interaction | Organism | Category |
Advanced Summary
autosomal dominant nocturnal frontal lobe epilepsy At least three mutations in the CHRNB2 gene have been identified in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Each of these mutations changes a single protein building block (amino acid) in the β2 subunit of nAChR channels. CHRNB2 mutations make nAChR channels more sensitive to the neurotransmitter acetylcholine, allowing the channels to open more easily than usual. The resulting increase in ion flow across the cell membrane alters the release of neurotransmitters, which changes signaling between neurons. Researchers believe that the overexcitement of certain neurons in the brain triggers the abnormal brain activity associated with seizures. It is unclear why the seizures seen in ADNFLE start in the frontal lobes of the brain and occur most often during sleep.
The CHRNB2 gene provides instructions for making one part (subunit) of a larger protein called a neuronal nicotinic acetylcholine receptor (nAChR). Each nAChR protein is made up of a combination of five subunits, usually two alpha (α) and three beta (β) subunits. Many different combinations are possible, and the characteristics of each nAChR protein depend on which subunits it contains. In the brain, nAChR proteins most commonly consist of two α4 subunits and three β2 subunits. The CHRNB2 gene is responsible for producing the β2 subunit. In the brain, nAChR proteins are widely distributed and play an important role in chemical signaling between nerve cells (neurons). The nAChR proteins act as channels, allowing charged atoms (ions) including calcium, sodium, and potassium to cross the cell membrane. These channels open when attached to a brain chemical (neurotransmitter) called acetylcholine. The channels also open in response to nicotine, the addictive substance in tobacco. Communication between neurons depends on neurotransmitters, which are released from one neuron and taken up by neighboring neurons. The release and uptake of these chemicals are tightly regulated to ensure that signals are passed efficiently and accurately between neurons. Researchers believe that nAChR channels play an important role in controlling the normal release and uptake of neurotransmitters. A wide range of brain functions depend on nAChR channels, including sleep and arousal, fatigue, anxiety, attention, pain perception, and memory. The channels are also active before birth, which suggests that they are involved in early brain development. At least one drug that targets nAChR channels in the brain has been developed to help people quit smoking; other medications targeting these channels are under study for the treatment of schizophrenia, Alzheimer disease, and pain.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Gene Pathways:
Molecular Function:
- Acetylcholine-Activated Cation-Selective Channel Activity
- Acetylcholine Binding
- Acetylcholine Receptor Activity
- Drug Binding
- Ligand-Gated Ion Channel Activity
Biological Processes:
- Acetylcholine Receptor Signaling Pathway
- Action Potential
- Associative Learning
- B Cell Activation
- Behavioral Response To Nicotine
- Calcium Ion Transport
- Central Nervous System Projection Neuron Axonogenesis
- Cognition
- Conditioned Taste Aversion
- Ion Transport
- Lateral Geniculate Nucleus Development
- Learning
- Locomotory Behavior
- Membrane Depolarization
- Memory
- Negative Regulation Of Action Potential
- Neurological System Process
- Neuromuscular Synaptic Transmission
- Optic Nerve Morphogenesis
- Positive Regulation Of B Cell Proliferation
- Positive Regulation Of Dopamine Secretion
- Positive Regulation Of Synaptic Transmission, Dopaminergic
- Protein Heterooligomerization
- Regulation Of Circadian Sleep/Wake Cycle, Non-Rem Sleep
- Regulation Of Circadian Sleep/Wake Cycle, Rem Sleep
- Regulation Of Dendrite Morphogenesis
- Regulation Of Dopamine Metabolic Process
- Regulation Of Dopamine Secretion
- Regulation Of Synapse Assembly
- Regulation Of Synaptic Transmission, Dopaminergic
- Response To Cocaine
- Response To Ethanol
- Response To Hypoxia
- Response To Nicotine
- Sensory Perception Of Pain
- Sensory Perception Of Sound
- Signal Transduction
- Smooth Muscle Contraction
- Social Behavior
- Synaptic Transmission, Cholinergic
- Synaptic Transmission Involved In Micturition
- Vestibulocochlear Nerve Development
- Visual Learning
- Visual Perception