CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit)

2007-02-01  

Identity

HGNC
LOCATION
20q13.33
LOCUSID
ALIAS
BFNC,EBN,EBN1,NACHR,NACHRA4,NACRA4
FUSION GENES

Other Information

Locus ID:

NCBI: 1137
MIM: 118504
HGNC: 1958
Ensembl: ENSG00000101204

Variants:

dbSNP: 1137
ClinVar: 1137
TCGA: ENSG00000101204
COSMIC: CHRNA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101204ENST00000370263P43681
ENSG00000101204ENST00000498043H0YBH1
ENSG00000101204ENST00000615287P43681
ENSG00000101204ENST00000627000A0A0D9SFU6

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Cholinergic synapseKEGGhsa04725
Nicotine addictionKEGGhsa05033
Nicotine addictionKEGGko05033
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
PA164781343vareniclineChemicalClinicalAnnotationassociatedPD25774163
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD15902904
PA445876Tobacco Use DisorderDiseaseClinicalAnnotation, VariantAnnotationassociatedPD15790597, 19290018, 20854418, 21740768, 25774163
PA448073ethanolChemicalClinicalAnnotationassociatedPD15902904
PA450626nicotineChemicalClinicalAnnotation, VariantAnnotationassociatedPD15790597, 19290018, 20854418, 21740768, 31402126

References

Pubmed IDYearTitleCitations
195069062009Candidate gene studies of ADHD: a meta-analytic review.263
188215652008Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.133
161838562005Nicotine acts as a pharmacological chaperone to up-regulate human alpha4beta2 acetylcholine receptors.130
192599742009Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.121
276984192016X-ray structure of the human α4β2 nicotinic receptor.115
208810052011Acetylcholine receptor (AChR) α5 subunit variant associated with risk for nicotine dependence and lung cancer reduces (α4β2)₂α5 AChR function.97
157905972005Ethnic- and gender-specific association of the nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4) with nicotine dependence.94
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
151541172004A common haplotype of the nicotine acetylcholine receptor alpha 4 subunit gene is associated with vulnerability to nicotine addiction in men.78
172267982007Association of the neuronal nicotinic receptor beta2 subunit gene (CHRNB2) with subjective responses to alcohol and nicotine.71

Citation

Dessen P

CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46560/chrna4