CHRNB2
entrez
1141
canonical
uniprot
P17787
canonical
ensembl
ENSG00000160716
resolver
ensp
ENSP00000357461
resolver
enst
ENST00000368476
resolver
genesymbol
CHRNB2
resolver
hgnc
HGNC:1962
resolver
uniprot
Q5SXY3
resolver
uniprot
Q9UEH9
resolver
uniprot_entry
ACHB2_HUMAN
resolver
uniprot_entry
Q5SXY3_HUMAN
resolver
uniprot_sec
Q9UEH9
resolver
activity_regulation
ACTIVITY REGULATION: Activated by a myriad of ligands such as acetylcholine, cytisine, nicotine, choline and epibatidine (PubMed:12527804, PubMed:16835356, PubMed:17132685, PubMed:20881005, PubMed:27698419, PubMed:29720657, PubMed:38454578). Channel potentiation by calcium is stoichiometry-selective, CHRNA4:CHRNB2 nACh receptor is achieved by calcium association with topographically distinct sites framed by anionic residues within the CHRNA4 subunit and between the CHRNA4 and CHRNB2 subunits (PubMed:38454578). Oligomeric amyloid-beta protein 42 activates specifially CHRNA7:CHRNB2 nAchRs (PubMed:33239400). nAChR activity is inhibited by the antagonist alpha-conotoxins BuIA, PnIA, PnIC, GID and MII, small disulfide-constrained peptides from cone snails (PubMed:15609996, PubMed:38161283). {ECO:0000269|PubMed:12527804, ECO:0000269|PubMed:15609996, ECO:0000269|PubMed:16835356, ECO:0000269|PubMed:17132685, ECO:0000269|PubMed:20881005, ECO:0000269|PubMed:27698419, ECO:0000269|PubMed:29720657, ECO:0000269|PubMed:33239400, ECO:0000269|PubMed:38161283, ECO:0000269|PubMed:38454578}.
uniprot
proteins
amino_acid_sequence
MARRCGPVALLLGFGLLRLCSGVWGTDTEERLVEHLLDPSRYNKLIRPATNGSELVTVQLMVSLAQLISVHEREQIMTTNVWLTQEWEDYRLTWKPEEFDNMKKVRLPSKHIWLPDVVLYNNADGMYEVSFYSNAVVSYDGSIFWLPPAIYKSACKIEVKHFPFDQQNCTMKFRSWTYDRTEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDITYDFIIRRKPLFYTINLIIPCVLITSLAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKIVPPTSLDVPLVGKYLMFTMVLVTFSIVTSVCVLNVHHRSPTTHTMAPWVKVVFLEKLPALLFMQQPRHHCARQRLRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGLAGAFGAEPAPVAGPGRSGEPCGCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVIDRLFLWIFVFVCVFGTIGMFLQPLFQNYTTTTFLHSDHSAPSSK
uniprot
proteins
disease_involvement
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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:22361591, PubMed:27698419, PubMed:29720657, PubMed:38454578). CHRNB2 forms heteropentameric neuronal acetylcholine receptors with CHRNA2, CHRNA3, CHRNA4 and CHRNA6, as well as CHRNA5 and CHRNB3 as accesory subunits (PubMed:16835356, PubMed:20881005, PubMed:22361591, PubMed:27698419, PubMed:29720657, PubMed:38454578, PubMed:8663494). Found in two major stoichiometric forms,(CHRNA4)3:(CHRNB2)2 and (CHRNA4)2:(CHRNB2)3, the two stoichiometric forms differ in their unitary conductance, calcium permeability, ACh sensitivity and potentiation by divalent cation (PubMed:27698419, PubMed:29720657, PubMed:38454578). Heteropentameric channels with CHRNA6 and CHRNA4 exhibit high sensitivity to ACh and nicotine and are predominantly expressed in only a few brain areas, including dopaminergic neurons, norepirephrine neurons and cells of the visual system. nAChrs containing CHRNA6 subunits mediate endogenous cholinergic modulation of dopamine and gamma-aminobutyric acid (GABA) release in response to nicotine at nerve terminals (By similarity). Also forms functional nAChRs with other subunits such as CHRNA7:CHRNB2, mainly expressed in basal forebrain cholinergic neurons (PubMed:33239400, PubMed:38161283). {ECO:0000250|UniProtKB:P12390, ECO:0000269|PubMed:16835356, ECO:0000269|PubMed:20881005, ECO:0000269|PubMed:22361591, ECO:0000269|PubMed:27698419, ECO:0000269|PubMed:29720657, ECO:0000269|PubMed:33239400, ECO:0000269|PubMed:38161283, ECO:0000269|PubMed:38454578, ECO:0000269|PubMed:8663494}.
uniprot
proteins
mass_dalton
57019
uniprot
proteins
mutagenesis
MUTAGEN 72; /note="E->A: Reduces CHRNA4:CHRNB2 channel opening potentiation by divalent cations."; /evidence="ECO:0000269|PubMed:38454578"; MUTAGEN 74; /note="E->A: Reduces CHRNA4:CHRNB2 channel opening potentiation by divalent cations."; /evidence="ECO:0000269|PubMed:38454578"; MUTAGEN 196; /note="D->A: Loss of CHRNA4:CHRNB2 channel opening potentiation by divalent cations."; /evidence="ECO:0000269|PubMed:38454578"; MUTAGEN 197; /note="F->Y: Increases ligand activation in LS and HS nAChR subtypes."; /evidence="ECO:0000269|PubMed:27493220"; MUTAGEN 202; /note="E->A: Reduces CHRNA4:CHRNB2 channel opening potentiation by divalent cations."; /evidence="ECO:0000269|PubMed:38454578"; MUTAGEN 218; /note="D->A: Reduces CHRNA4:CHRNB2 channel opening potentiation by divalent cations."; /evidence="ECO:0000269|PubMed:38454578"; MUTAGEN 285; /note="K->E: Increases Ca(2+) permeability."; /evidence="ECO:0000269|PubMed:17132685
uniprot
proteins
protein_family
Acetylcholine receptor (TC 1.A.9.1) subfamily
uniprot
proteins
protein_family
Beta-2/CHRNB2 sub-subfamily
uniprot
proteins
protein_family
Ligand-gated ion channel (TC 1.A.9) family
uniprot
proteins
pubmed
10441742
uniprot
proteins
pubmed
11062464
uniprot
proteins
pubmed
11104662
uniprot
proteins
pubmed
11118490
uniprot
proteins
pubmed
11906688
uniprot
proteins
pubmed
12527804
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15609996
uniprot
proteins
pubmed
16120769
uniprot
proteins
pubmed
16835356
uniprot
proteins
pubmed
17132685
uniprot
proteins
pubmed
20441771
uniprot
proteins
pubmed
20881005
uniprot
proteins
pubmed
22361591
uniprot
proteins
pubmed
2377478
uniprot
proteins
pubmed
27344019
uniprot
proteins
pubmed
27493220
uniprot
proteins
pubmed
27698419
uniprot
proteins
pubmed
29720657
uniprot
proteins
pubmed
33239400
uniprot
proteins
pubmed
38161283
uniprot
proteins
pubmed
38454578
uniprot
proteins
pubmed
8663494
uniprot
proteins
pubmed
8906617
uniprot
proteins
pubmed
9009220
uniprot
proteins
pubmed
9921897
uniprot
proteins
sequence_length
502
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Synaptic cell membrane {ECO:0000250|UniProtKB:P12390}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 239..260; /note="Helical"; /evidence="ECO:0000269|PubMed:29720657, ECO:0007744|PDB:6CNJ"; TRANSMEM 266..282; /note="Helical"; /evidence="ECO:0000269|PubMed:29720657, ECO:0007744|PDB:6CNJ"; TRANSMEM 297..321; /note="Helical"; /evidence="ECO:0000269|PubMed:29720657, ECO:0007744|PDB:6CNJ"; TRANSMEM 459..478; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins