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MGP000559

UniProt Annotations

Entry Information

Gene Name	cholinergic receptor, nicotinic, beta 2 (neuronal)
Protein Entry	ACHB2_HUMAN
UniProt ID	P17787
Species	Human

Comments

Comment type	Description
Disease	Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375]: An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. {ECO:0000269\|PubMed:11062464, ECO:0000269\|PubMed:11104662}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	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. {ECO:0000269\|PubMed:22361591}.
Similarity	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. {ECO:0000305}.
Subcellular Location	Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Subunit	Neuronal AChR is composed of two different types of subunits: alpha and beta. Beta-2 subunit can be combined to alpha- 2, alpha-3 or alpha-4 to give rise to functional receptors, complexes with beta-2 may be heteropentamers. Interacts with RIC3; which is required for proper folding and assembly. {ECO:0000269\|PubMed:16120769, ECO:0000269\|PubMed:22361591}.