Property Summary

NCBI Gene PubMed Count 25
PubMed Score 17.45
PubTator Score 24.85

Knowledge Summary

Patent (1,362)

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 1.500 0.000
cystic fibrosis -1.068 0.000

Synonym

Accession P11230 B7Z5H1 Q8IZ46 Q96FB8
Symbols ACHRB
CHRNB
CMS1D
CMS2A
CMS2C
SCCMS

Gene

Gene RIF (15)

PMID Text
24240098 These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits.
22406075 Single nucleotide polymorphisms , rs55633891 (alpha9, C>T) and rs17856697 (beta1, A>G), did not exhibit a significant trend to be associated with cervical lesions.
20736995 Observational study of gene-disease association. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20584212 Observational study of gene-disease association. (HuGE Navigator)
19307444 Observational study of gene-disease association. (HuGE Navigator)
19279256 Extracellular beta1-beta2 and cysteine-loops bridge the pre-M1 transmembrane domain and M2-M3 linker to transduce agonist binding into channel gating.
19259974 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
18179903 No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence.
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AA Sequence

MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPAREVGDRVRVSVGLILAQLISLNEKD      1 - 70
EEMSTKVYLDLEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVR     71 - 140
WQPPGIYRSSCSIQVTYFPFDWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEI    141 - 210
IHKPSRLIQPPGDPRGGREGQRQEVIFYLIIRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLS    211 - 280
IFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVTFSVILSVVVLNLHHRSPHTHQMPLWVRQIF    281 - 350
IHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDFLFPKPNRFQPELSAPDLRRFI    351 - 420
DGPNRAVALLPELREVVSSISYIARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIIFTSVGTLVIFLDA    421 - 490
TYHLPPPDPFP                                                               491 - 501
//

Text Mined References (26)

PMID Year Title
24240098 2014 Determinants in the ? and ? subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.
22406075 2012 Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia.
20736995 2010 Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20584212 2010 Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.
19307444 2009 Examination of the nicotine dependence (NICSNP) consortium findings in the Iowa adoption studies population.
19279256 2009 Binding to gating transduction in nicotinic receptors: Cys-loop energetically couples to pre-M1 and M2-M3 regions.
19259974 2009 Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
18179903 2008 Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
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