CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)

2007-02-01  

Identity

HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
ACHRB,CHRNB,CMS1D,CMS2A,CMS2C,SCCMS
FUSION GENES

Other Information

Locus ID:

NCBI: 1140
MIM: 100710
HGNC: 1961
Ensembl: ENSG00000170175

Variants:

dbSNP: 1140
ClinVar: 1140
TCGA: ENSG00000170175
COSMIC: CHRNB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170175ENST00000306071P11230
ENSG00000170175ENST00000536404P11230
ENSG00000170175ENST00000570557I3L3Q9
ENSG00000170175ENST00000572857I3L4N5
ENSG00000170175ENST00000575379I3L535
ENSG00000170175ENST00000576360I3L1T7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192599742009Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.121
205842122010Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.58
192792562009Binding to gating transduction in nicotinic receptors: Cys-loop energetically couples to pre-M1 and M2-M3 regions.42
170150272007Nicotine activates cell-signaling pathways through muscle-type and neuronal nicotinic acetylcholine receptors in non-small cell lung cancer cells.40
207369952010Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.39
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
190860532009Identification 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.34
168745222006Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence.22
168745222006Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence.22
181799032008Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.19

Citation

Dessen P

CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/50005/chrnb1