CHRNB2 (cholinergic receptor nicotinic beta 2 subunit)

2016-10-01 Affiliation

Identity

HGNC

CHRNB2

LOCATION

1q21.3

LOCUSID

1141

ALIAS

EFNL3,nAChRB2

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: 1141
MIM: 118507
HGNC: 1962
Ensembl: ENSG00000160716

Variants:

dbSNP: 1141
ClinVar: 1141
TCGA: ENSG00000160716
COSMIC: CHRNB2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000160716	ENST00000368476	P17787
ENSG00000160716	ENST00000368476	Q5SXY3
ENSG00000160716	ENST00000636034	A0A1B0GTH5
ENSG00000160716	ENST00000636695	A0A1B0GUQ6
ENSG00000160716	ENST00000637900	A0A1B0GVD7

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
Cholinergic synapse	KEGG	hsa04725
Nicotine addiction	KEGG	hsa05033
Nicotine addiction	KEGG	ko05033
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
Highly sodium permeable acetylcholine nicotinic receptors	REACTOME	R-HSA-629587
Postsynaptic nicotinic acetylcholine receptors	REACTOME	R-HSA-622327
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	REACTOME	R-HSA-629594

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA445876	Tobacco Use Disorder	Disease	ClinicalAnnotation	associated		PD	20854418
PA450626	nicotine	Chemical	ClinicalAnnotation	associated		PD	20854418

References

Pubmed ID	Year	Title	Citations
17192785	2007	Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.	609
16183856	2005	Nicotine acts as a pharmacological chaperone to up-regulate human alpha4beta2 acetylcholine receptors.	130
19259974	2009	Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.	121
27698419	2016	X-ray structure of the human α4β2 nicotinic receptor.	115
20534741	2010	Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.	108
16928859	2006	Human tobacco smokers in early abstinence have higher levels of beta2* nicotinic acetylcholine receptors than nonsmokers.	101
20881005	2011	Acetylcholine receptor (AChR) α5 subunit variant associated with risk for nicotine dependence and lung cancer reduces (α4β2)₂α5 AChR function.	97
19874574	2009	Genetical genomic determinants of alcohol consumption in rats and humans.	93
18593715	2008	Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation.	83
18593715	2008	Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation.	83

Citation

Dessen P

CHRNB2 (cholinergic receptor nicotinic beta 2 subunit)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56281/chrnb2