CHRNB2 (cholinergic receptor nicotinic beta 2 subunit)

2016-10-01  

Identity

HGNC
LOCATION
1q21.3
LOCUSID
ALIAS
EFNL3,nAChRB2
FUSION GENES

Other Information

Locus ID:

NCBI: 1141
MIM: 118507
HGNC: 1962
Ensembl: ENSG00000160716

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160716ENST00000368476P17787
ENSG00000160716ENST00000368476Q5SXY3
ENSG00000160716ENST00000636034A0A1B0GTH5
ENSG00000160716ENST00000636695A0A1B0GUQ6
ENSG00000160716ENST00000637900A0A1B0GVD7

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Cholinergic synapseKEGGhsa04725
Nicotine addictionKEGGhsa05033
Nicotine addictionKEGGko05033
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Acetylcholine Binding And Downstream EventsREACTOMER-HSA-181431
Activation of Nicotinic Acetylcholine ReceptorsREACTOMER-HSA-629602
Presynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622323
Highly calcium permeable nicotinic acetylcholine receptorsREACTOMER-HSA-629597
Highly sodium permeable acetylcholine nicotinic receptorsREACTOMER-HSA-629587
Postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622327
Highly calcium permeable postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-629594

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445876Tobacco Use DisorderDiseaseClinicalAnnotationassociatedPD20854418
PA450626nicotineChemicalClinicalAnnotationassociatedPD20854418

References

Pubmed IDYearTitleCitations
336571872021Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures.2
336571872021Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures.2
325363552020Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.4
325778532020The α7 and β2 nicotinic acetylcholine receptor subunits regulate apoptosis in the infant hippocampus, and in sudden infant death syndrome (SIDS).3
325363552020Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.4
325778532020The α7 and β2 nicotinic acetylcholine receptor subunits regulate apoptosis in the infant hippocampus, and in sudden infant death syndrome (SIDS).3
311304832019Identification of the Initial Steps in Signal Transduction in the α4β2 Nicotinic Receptor: Insights from Equilibrium and Nonequilibrium Simulations.10
311304832019Identification of the Initial Steps in Signal Transduction in the α4β2 Nicotinic Receptor: Insights from Equilibrium and Nonequilibrium Simulations.10
286008472018The fifth subunit of the (α4β2)(2) β2 nicotinic ACh receptor modulates maximal ACh responses.5
297206572018Structural principles of distinct assemblies of the human α4β2 nicotinic receptor.96
286008472018The fifth subunit of the (α4β2)(2) β2 nicotinic ACh receptor modulates maximal ACh responses.5
297206572018Structural principles of distinct assemblies of the human α4β2 nicotinic receptor.96
278951612017The E Loop of the Transmitter Binding Site Is a Key Determinant of the Modulatory Effects of Physostigmine on Neuronal Nicotinic α4β2 Receptors.4
284466112017Unraveling amino acid residues critical for allosteric potentiation of (α4)3(β2)2-type nicotinic acetylcholine receptor responses.10
278951612017The 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/js/lib/teaching-explorer/