Identity
HGNC
LOCATION
1q21.3
LOCUSID
ALIAS
EFNL3,nAChRB2
FUSION GENES
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
Expression (GTEx)
Pathways
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/chrnb2-(cholinergic-receptor-nicotinic-beta-2-subunit)
