CHRNB4 (cholinergic receptor nicotinic beta 4 subunit)

2011-06-01  

Identity

HGNC
LOCATION
15q25.1
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 1143
MIM: 118509
HGNC: 1964
Ensembl: ENSG00000117971

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117971ENST00000261751P30926
ENSG00000117971ENST00000412074P30926
ENSG00000117971ENST00000559849H3BU02

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Cholinergic synapseKEGGhsa04725
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
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166114414cotinineChemicalClinicalAnnotationassociatedPK
PA445876Tobacco Use DisorderDiseaseClinicalAnnotation, VariantAnnotationassociatedPKPD20886544
PA450626nicotineChemicalClinicalAnnotation, VariantAnnotationassociatedPD20886544

References

Pubmed IDYearTitleCitations
335785312021The relationship between CHRNA5/A3/B4 gene cluster polymorphisms and lung cancer risk: An updated meta-analysis and systematic review.3
335785312021The relationship between CHRNA5/A3/B4 gene cluster polymorphisms and lung cancer risk: An updated meta-analysis and systematic review.3
299715942018Genetic modifiers of radon-induced lung cancer risk: a genome-wide interaction study in former uranium miners.14
304538842018Combined genetic influence of the nicotinic receptor gene cluster CHRNA5/A3/B4 on nicotine dependence.9
299715942018Genetic modifiers of radon-induced lung cancer risk: a genome-wide interaction study in former uranium miners.14
304538842018Combined genetic influence of the nicotinic receptor gene cluster CHRNA5/A3/B4 on nicotine dependence.9
277580882017The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations.13
277580882017The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations.13
254719422016Contribution of Variants in CHRNA5/A3/B4 Gene Cluster on Chromosome 15 to Tobacco Smoking: From Genetic Association to Mechanism.33
266893062016Gene variance in the nicotinic receptor cluster (CHRNA5-CHRNA3-CHRNB4) predicts death from cardiopulmonary disease and cancer in smokers.14
269049472016MafA-Controlled Nicotinic Receptor Expression Is Essential for Insulin Secretion and Is Impaired in Patients with Type 2 Diabetes.18
269427192016Chromosome 15q25 (CHRNA3-CHRNB4) Variation Indirectly Impacts Lung Cancer Risk in Chinese Males.5
273028722016Pleiotropic effects of Chr15q25 nicotinic gene cluster and the relationship between smoking, cognition and ADHD.6
254719422016Contribution of Variants in CHRNA5/A3/B4 Gene Cluster on Chromosome 15 to Tobacco Smoking: From Genetic Association to Mechanism.33
266893062016Gene variance in the nicotinic receptor cluster (CHRNA5-CHRNA3-CHRNB4) predicts death from cardiopulmonary disease and cancer in smokers.14

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