nAChRB2 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. Defects in CHRNB2 are the cause of nocturnal frontal lobe epilepsy type 3 (ENFL3). ENFL3 is an autosomal dominant epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 2/CHRNB2 sub-subfamily. Note: This description may include information from UniProtKB.
Protein type: Channel, cation; Channel, ligand-gated; Membrane protein, integral; Membrane protein, multi-pass; Receptor, misc.
Chromosomal Location of Human Ortholog: 1q21.3
Cellular Component:  acetylcholine-gated channel complex; cell junction; external side of plasma membrane; integral component of membrane; plasma membrane; postsynaptic membrane
Molecular Function:  acetylcholine binding; acetylcholine receptor activity; acetylcholine-gated cation channel activity; drug binding; ligand-gated ion channel activity; protein binding; protein heterodimerization activity
Biological Process:  associative learning; B cell activation; behavioral response to nicotine; calcium ion transport; central nervous system projection neuron axonogenesis; cognition; conditioned taste aversion; excitatory postsynaptic potential; 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 action potential; 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 involved in micturition; synaptic transmission, cholinergic; vestibulocochlear nerve development; visual learning; visual perception
Disease: Epilepsy, Nocturnal Frontal Lobe, 3
Reference #:  P17787 (UniProtKB)
Alt. Names/Synonyms: ACHB2; cholinergic receptor, nicotinic, beta 2 (neuronal); cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal); CHRNB2; EFNL3; nAChRB2; Neuronal acetylcholine receptor subunit beta-2; neuronal nicotinic acetylcholine receptor beta 2
Gene Symbols: CHRNB2
Molecular weight: 57,019 Da
Basal Isoelectric point: 6.33  Predict pI for various phosphorylation states
CST Pathways:  Alzheimer's Disease
Select Structure to View Below

nAChRB2

Protein Structure Not Found.


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