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nicotinic receptor beta-2; neuronal acetylcholine receptor subunit beta-2 (CHRNB2)
Function:
- nicotinic receptor beta CHRNB2 can be combined to CHRNA2, CHRNA3, CHRNA4 to form functional nicotinic receptors
- interaction with RIC3 is required for proper folding & assembly
Structure:
- belongs to the ligand-gated ionic channel (TC 1.A.9) family
Compartment:
- cell junction, synapse, postsynaptic cell membrane
Pathology:
- defects in CHRNB2 are the cause of nocturnal frontal lobe epilepsy type 3 (ENFL3
General
nicotinic receptor beta subunit
Properties
SIZE: entity length = 502 aa
MW = 57 kD
COMPARTMENT: plasma membrane
MOTIF: exoplasmic domain {1-233}
MOTIF: signal sequence {1-25}
N-glycosylation site {N51}
cysteine residue {C155}
MODIFICATION: cysteine residue {C169}
N-glycosylation site {N168}
cysteine residue {C169}
MODIFICATION: cysteine residue {C155}
transmembrane domain {234-258}
cytoplasmic loop {259-265}
transmembrane domain {266-284}
exoplasmic loop {285-299}
transmembrane domain {300-321}
cytoplasmic loop {322-458}
transmembrane domain {459-478}
exoplasmic domain {479-502}
MOTIF: N-glycosylation site {N485}
Database Correlations
OMIM correlations
MORBIDMAP 118507
UniProt P17787
PFAM correlations
Entrez Gene 1141
Kegg hsa:1141
References
- UniProt :accession P17787
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNB2