Aliases for CHRNB2 Gene
External Ids for CHRNB2 Gene
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]
GeneCards Summary for CHRNB2 Gene
CHRNB2 (Cholinergic Receptor, Nicotinic, Beta 2 (Neuronal)) is a Protein Coding gene. Diseases associated with CHRNB2 include epilepsy, nocturnal frontal lobe, 3 and frontal lobe epilepsy. Among its related pathways are Nanog in Mammalian ESC Pluripotency and SIDS Susceptibility Pathways. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and ligand-gated ion channel activity. An important paralog of this gene is CHRNA3.
UniProtKB/Swiss-Prot for CHRNB2 Gene
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.
Nicotinic alpha4beta2 receptors have high affinity for nicotine and account for >90% of [3H]-nicotine binding to brain tissues. A stoichiometry of (alpha4)2(beta2)3 has been proposed, generating two agonist binding sites consistent with the model of the muscle nAChR. Manipulation of the stoichiometry of alpha4beta2 nAChRs expressed in Xenopus oocytes indicates that (alpha4)3(beta2)2 nAChRs are also viable, displaying lower affinity for ACh and higher Ca2+ permeability; whether native nAChRs with this subunit stoichiometry exist is not known. Transgenic knockout of either of these subunits eliminates nicotine self administration, whereas virally targeted re-expression of the beta2 subunit in mesolimbic areas of beta2 knockout mice recovers this behavior, implicating a role for alpha4beta2 nAChRs in nicotine addiction. alpha4beta2 nAChRs are highly expressed in the thalamus and have been suggested to have a putative role in the thalamo-cortical circuitry . As a consequence of their putative role in thalamo-cortical circuitry, gain of function mutations in the M2 domain of either the alpha4 or beta2 subunit give rise to some forms of autosomal dominant nocturnal frontal lobe epilepsy. The human genes encoding the nicotinic alpha4 and beta2 receptor subunits have been localized to chromosomes 13 (q13.2-q13.3) and 1 (1q21.3) respectively.