CHRNB4 (cholinergic receptor nicotinic beta 4 subunit)

2011-06-01 Affiliation

Identity

HGNC

CHRNB4

LOCATION

15q25.1

LOCUSID

1143

ALIAS

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: 1143
MIM: 118509
HGNC: 1964
Ensembl: ENSG00000117971

Variants:

dbSNP: 1143
ClinVar: 1143
TCGA: ENSG00000117971
COSMIC: CHRNB4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000117971	ENST00000261751	P30926
ENSG00000117971	ENST00000412074	P30926
ENSG00000117971	ENST00000559849	H3BU02

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
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
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Neutrophil degranulation	REACTOME	R-HSA-6798695

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA166114414	cotinine	Chemical	ClinicalAnnotation	associated	PK
PA445876	Tobacco Use Disorder	Disease	ClinicalAnnotation, VariantAnnotation	associated	PK	PD	20886544
PA450626	nicotine	Chemical	ClinicalAnnotation, VariantAnnotation	associated		PD	20886544

References

Pubmed ID	Year	Title	Citations
18385738	2008	A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.	543
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
18618000	2008	A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.	140
19706762	2009	The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans.	132
19259974	2009	Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.	121
18414406	2009	Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence.	113
18163978	2008	The CHRNA5/A3/B4 gene cluster variability as an important determinant of early alcohol and tobacco initiation in young adults.	100
19029397	2008	Nicotinic receptor gene variants influence susceptibility to heavy smoking.	100
19029397	2008	Nicotinic receptor gene variants influence susceptibility to heavy smoking.	100

Citation

Dessen P

CHRNB4 (cholinergic receptor nicotinic beta 4 subunit)

Atlas Genet Cytogenet Oncol Haematol. 2011-06-01

Online version: http://atlasgeneticsoncology.org/gene/52258/chrnb4-(cholinergic-receptor-nicotinic-beta-4-subunit)