CHRNA5 (cholinergic receptor nicotinic alpha 5 subunit)

2008-05-01 Affiliation

Identity

HGNC

CHRNA5

LOCATION

15q25.1

LOCUSID

1138

ALIAS

LNCR2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1138
MIM: 118505
HGNC: 1959
Ensembl: ENSG00000169684

Variants:

dbSNP: 1138
ClinVar: 1138
TCGA: ENSG00000169684
COSMIC: CHRNA5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000169684	ENST00000299565	P30532
ENSG00000169684	ENST00000394802	H7BYM0
ENSG00000169684	ENST00000559554	H0YM98
ENSG00000169684	ENST00000559576	H0YK34

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Neuroactive ligand-receptor interaction	KEGG	ko04080
Neuroactive ligand-receptor interaction	KEGG	hsa04080
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
Acetylcholine Binding And Downstream Events	REACTOME	R-HSA-181431
Activation of Nicotinic Acetylcholine Receptors	REACTOME	R-HSA-629602
Presynaptic nicotinic acetylcholine receptors	REACTOME	R-HSA-622323
Highly calcium permeable nicotinic acetylcholine receptors	REACTOME	R-HSA-629597
Postsynaptic nicotinic acetylcholine receptors	REACTOME	R-HSA-622327
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	REACTOME	R-HSA-629594

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA164712720	Drugs used in nicotine dependence	Chemical	ClinicalAnnotation	associated		PD	25950378
PA164712950	Opium alkaloids and derivatives	Chemical	ClinicalAnnotation	associated		PD	20725741
PA164781343	varenicline	Chemical	ClinicalAnnotation, VariantAnnotation	ambiguous		PD	25950378
PA166114414	cotinine	Chemical	ClinicalAnnotation	associated	PK	PD
PA443309	Alcoholism	Disease	ClinicalAnnotation	associated		PD
PA445208	Pain	Disease	ClinicalAnnotation	associated		PD	20725741
PA445876	Tobacco Use Disorder	Disease	ClinicalAnnotation, VariantAnnotation	ambiguous	PK	PD	20725741, 20886544, 25950378, 27355804
PA446878	Cocaine-Related Disorders	Disease	ClinicalAnnotation	associated		PD	32152934
PA448073	ethanol	Chemical	ClinicalAnnotation	associated		PD
PA448687	bupropion	Chemical	ClinicalAnnotation, VariantAnnotation	ambiguous		PD	25950378
PA449072	cocaine	Chemical	ClinicalAnnotation	associated		PD	32152934
PA450626	nicotine	Chemical	ClinicalAnnotation, VariantAnnotation	ambiguous		PD	20725741, 20886544, 25950378, 27355804, 31402126

References

Pubmed ID	Year	Title	Citations
18385676	2008	Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.	585
18385676	2008	Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.	585
18385738	2008	A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.	543
17135278	2007	Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.	424
20418889	2010	Meta-analysis and imputation refines the association of 15q25 with smoking quantity.	321
18519524	2008	Variants in nicotinic receptors and risk for nicotine dependence.	307
19300482	2009	A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.	302
19300482	2009	A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.	302
18227835	2008	Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking.	250
18227835	2008	Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking.	250

Citation

Dessen P

CHRNA5 (cholinergic receptor nicotinic alpha 5 subunit)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50146/chrna5-(cholinergic-receptor-nicotinic-alpha-5-subunit)