CHRNB3 (cholinergic receptor nicotinic beta 3 subunit)

2011-10-01 Affiliation

Identity

HGNC

CHRNB3

LOCATION

8p11.21

LOCUSID

1142

ALIAS

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: 1142
MIM: 118508
HGNC: 1963
Ensembl: ENSG00000147432

Variants:

dbSNP: 1142
ClinVar: 1142
TCGA: ENSG00000147432
COSMIC: CHRNB3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000147432	ENST00000289957	Q05901
ENSG00000147432	ENST00000534391	A0A1D5RMT8

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

References

Pubmed ID	Year	Title	Citations
28851948	2017	Significant association of the CHRNB3-CHRNA6 gene cluster with nicotine dependence in the Chinese Han population.	5
28851948	2017	Significant association of the CHRNB3-CHRNA6 gene cluster with nicotine dependence in the Chinese Han population.	5
27085880	2016	Evidence for Association Between Low Frequency Variants in CHRNA6/CHRNB3 and Antisocial Drug Dependence.	2
27327258	2016	Crucial roles of the CHRNB3-CHRNA6 gene cluster on chromosome 8 in nicotine dependence: update and subjects for future research.	13
27645992	2016	Unorthodox Acetylcholine Binding Sites Formed by α5 and β3 Accessory Subunits in α4β2* Nicotinic Acetylcholine Receptors.	19
27085880	2016	Evidence for Association Between Low Frequency Variants in CHRNA6/CHRNB3 and Antisocial Drug Dependence.	2
27327258	2016	Crucial roles of the CHRNB3-CHRNA6 gene cluster on chromosome 8 in nicotine dependence: update and subjects for future research.	13
27645992	2016	Unorthodox Acetylcholine Binding Sites Formed by α5 and β3 Accessory Subunits in α4β2* Nicotinic Acetylcholine Receptors.	19
24001015	2015	Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.	2
25823894	2015	A genetic variant in CHRNB3-CHRNA6 increases risk of esophageal squamous cell carcinoma in Chinese populations.	5
26318101	2015	The β3 subunit of the nicotinic acetylcholine receptor: Modulation of gene expression and nicotine consumption.	14
24001015	2015	Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.	2
25823894	2015	A genetic variant in CHRNB3-CHRNA6 increases risk of esophageal squamous cell carcinoma in Chinese populations.	5
26318101	2015	The β3 subunit of the nicotinic acetylcholine receptor: Modulation of gene expression and nicotine consumption.	14
23943838	2014	Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults.	16

Citation

Dessen P

CHRNB3 (cholinergic receptor nicotinic beta 3 subunit)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52438