CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit)

2008-05-01  

Identity

HGNC
LOCATION
15q25.1
LOCUSID
ALIAS
BAIPRCK,LNCR2,NACHRA3,PAOD2
FUSION GENES

Other Information

Locus ID:

NCBI: 1136
MIM: 118503
HGNC: 1957
Ensembl: ENSG00000080644

Variants:

dbSNP: 1136
ClinVar: 1136
TCGA: ENSG00000080644
COSMIC: CHRNA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080644ENST00000326828P32297
ENSG00000080644ENST00000348639P32297
ENSG00000080644ENST00000559080H0YNF9
ENSG00000080644ENST00000559658P32297

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Cholinergic synapseKEGGhsa04725
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Acetylcholine Binding And Downstream EventsREACTOMER-HSA-181431
Activation of Nicotinic Acetylcholine ReceptorsREACTOMER-HSA-629602
Presynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622323
Highly calcium permeable nicotinic acetylcholine receptorsREACTOMER-HSA-629597
Highly sodium permeable acetylcholine nicotinic receptorsREACTOMER-HSA-629587
Postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622327
Highly calcium permeable postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-629594

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712720Drugs used in nicotine dependenceChemicalClinicalAnnotationassociatedPD
PA164712950Opium alkaloids and derivativesChemicalClinicalAnnotationassociatedPD20725741
PA166048714PregnancyDiseaseClinicalAnnotationassociated
PA166114414cotinineChemicalClinicalAnnotationassociatedPK
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD
PA445208PainDiseaseClinicalAnnotationassociatedPD20725741
PA445876Tobacco Use DisorderDiseaseClinicalAnnotationassociatedPKPD20886544
PA446878Cocaine-Related DisordersDiseaseClinicalAnnotationassociatedPD32152934
PA448073ethanolChemicalClinicalAnnotationassociatedPD
PA449072cocaineChemicalClinicalAnnotationassociatedPD32152934
PA450626nicotineChemicalClinicalAnnotationassociatedPKPD20886544, 24535486, 31402126

References

Pubmed IDYearTitleCitations
183856762008Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.585
183856762008Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.585
183857382008A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.543
204188902010Genome-wide meta-analyses identify multiple loci associated with smoking behavior.463
204188892010Meta-analysis and imputation refines the association of 15q25 with smoking quantity.321
185195242008Variants in nicotinic receptors and risk for nicotine dependence.307
193004822009A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.302
193004822009A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.302
182278352008Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking.250
182278352008Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking.250

Citation

Dessen P

CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50155/chrna3