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
33657187	2021	Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures.	2
33657187	2021	Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures.	2
32536355	2020	Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.	4
32577853	2020	The α7 and β2 nicotinic acetylcholine receptor subunits regulate apoptosis in the infant hippocampus, and in sudden infant death syndrome (SIDS).	3
32536355	2020	Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.	4
32577853	2020	The α7 and β2 nicotinic acetylcholine receptor subunits regulate apoptosis in the infant hippocampus, and in sudden infant death syndrome (SIDS).	3
31130483	2019	Identification of the Initial Steps in Signal Transduction in the α4β2 Nicotinic Receptor: Insights from Equilibrium and Nonequilibrium Simulations.	10
31130483	2019	Identification of the Initial Steps in Signal Transduction in the α4β2 Nicotinic Receptor: Insights from Equilibrium and Nonequilibrium Simulations.	10
28600847	2018	The fifth subunit of the (α4β2)(2) β2 nicotinic ACh receptor modulates maximal ACh responses.	5
29720657	2018	Structural principles of distinct assemblies of the human α4β2 nicotinic receptor.	96
28600847	2018	The fifth subunit of the (α4β2)(2) β2 nicotinic ACh receptor modulates maximal ACh responses.	5
29720657	2018	Structural principles of distinct assemblies of the human α4β2 nicotinic receptor.	96
27895161	2017	The E Loop of the Transmitter Binding Site Is a Key Determinant of the Modulatory Effects of Physostigmine on Neuronal Nicotinic α4β2 Receptors.	4
28446611	2017	Unraveling amino acid residues critical for allosteric potentiation of (α4)3(β2)2-type nicotinic acetylcholine receptor responses.	10
27895161	2017	The E Loop of the Transmitter Binding Site Is a Key Determinant of the Modulatory Effects of Physostigmine on Neuronal Nicotinic α4β2 Receptors.	4

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/meetings/case-report-explorer/