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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CHRNB4
cholinergic receptor nicotinic beta 4 subunit
Chromosome 15 Β· 15q25.1
NCBI Gene: 1143Ensembl: ENSG00000117971.13HGNC: HGNC:1964UniProt: P30926
144PubMed Papers
20Diseases
8Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranesynapsecell junctionsignal transductionchronic obstructive pulmonary diseasehypertensionaneurysmhypotension
✦AI Summary

CHR15 encodes the beta-4 subunit of neuronal nicotinic acetylcholine receptors (nAChRs), which function as pentameric ligand-gated ion channels with high calcium permeability 1. The protein forms heteropentameric receptors with alpha subunits, particularly CHR15, creating the predominant ganglionic nicotinic receptor in autonomic ganglia 1. CHR15-containing receptors play crucial roles in nicotine addiction mechanisms, with genetic variants in the CHR15-CHR15-CHR15 gene cluster strongly associated with smoking heaviness, nicotine dependence, and tobacco consumption behaviors 12. These genetic associations extend to smoking-related diseases, with variants predicting increased risk of chr15 obstructive pulmonary disease, tobacco-related cancers, and smoking-related mortality 3. Interestingly, different variants within this cluster show distinct associations with smoking phenotypes - while rs16969968 associates with mature nicotine dependence, other variants (rs578776, rs1948, rs684513) specifically influence age of first regular tobacco use 4. Beyond addiction, CHR15 shows elevated expression in squamous cell carcinomas and may serve as a prognostic biomarker, with knockdown studies demonstrating inhibition of cancer cell proliferation through Akt/mTOR and ERK1/2/mTOR pathways 5. The receptor's role extends to autonomic function, as mouse studies suggest involvement in bladder contraction and potential relevance to megacystis-microcolon-hypoperistalsis syndrome 6.

Sources cited
1
CHRNB4 forms nAChRs as pentameric ligand-gated ion channels and associates with nicotine addiction
PMID: 32341069
2
CHRNA5-CHRNA3-CHRNB4 gene cluster variants associate with smoking heaviness and nicotine dependence
PMID: 27871728
3
Gene variants predict increased risk of COPD, tobacco-related cancers, and smoking-related mortality
PMID: 26689306
4
Distinct variants in the cluster associate with different smoking phenotypes including age of first regular use
PMID: 24186853
5
CHRNB4 is highly expressed in squamous cell carcinomas and affects cell proliferation through mTOR pathways
PMID: 33304845
6
CHRNB4 may be involved in autonomic function including bladder contraction
PMID: 11450844
Disease Associationsβ“˜20
chronic obstructive pulmonary diseaseOpen Targets
0.48Moderate
hypertensionOpen Targets
0.47Moderate
aneurysmOpen Targets
0.39Weak
essential hypertensionOpen Targets
0.37Weak
hypotensionOpen Targets
0.37Weak
malignant hypertensionOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
Myocardial IschemiaOpen Targets
0.37Weak
chronic bronchitisOpen Targets
0.36Weak
angina pectorisOpen Targets
0.35Weak
Dupuytren ContractureOpen Targets
0.34Weak
nicotine dependenceOpen Targets
0.34Weak
schizophreniaOpen Targets
0.33Weak
frontotemporal dementiaOpen Targets
0.33Weak
coronary artery diseaseOpen Targets
0.32Weak
celiac diseaseOpen Targets
0.30Weak
female infertilityOpen Targets
0.27Weak
spondylolisthesisOpen Targets
0.23Weak
aortic stenosisOpen Targets
0.20Weak
neurodegenerative diseaseOpen Targets
0.19Weak
Pathogenic Variants3
NM_000750.5(CHRNB4):c.178C>T (p.Leu60Phe)Likely pathogenic
Frontotemporal dementia
β˜†β˜†β˜†β˜†2022β†’ Residue 60
NM_000750.5(CHRNB4):c.658G>A (p.Val220Met)Likely pathogenic
Frontotemporal dementia
β˜†β˜†β˜†β˜†2022β†’ Residue 220
NM_000750.5(CHRNB4):c.1411G>C (p.Val471Leu)Pathogenic
Chronic obstructive pulmonary disease
β˜†β˜†β˜†β˜†β†’ Residue 471
View on ClinVar β†—
Drug Targets8
ASM-024Phase II
Muscarinic acetylcholine receptor M1 antagonist
asthma
LARAZOTIDEPhase III
Neuronal acetylcholine receptor; alpha3/beta4 partial agonist
celiac disease
LARAZOTIDE ACETATEPhase III
Neuronal acetylcholine receptor; alpha3/beta4 partial agonist
MECAMYLAMINEApproved
Neuronal acetylcholine receptor; alpha3/beta4 negative allosteric modulator
hypertension
MECAMYLAMINE HYDROCHLORIDEPhase II
Neuronal acetylcholine receptor; alpha3/beta4 negative allosteric modulator
depressive disorder
PENTOLINIUMApproved
Neuronal acetylcholine receptor; alpha3/beta4 antagonist
hypotension
SIMPINICLINEPhase II
Neuronal acetylcholine receptor; alpha4/beta2 agonist
irritable bowel syndrome
TRIMETHAPHANApproved
Neuronal acetylcholine receptor; alpha3/beta4 antagonist
hypertension
Related Genes
JAK2Protein interaction90%HYKKProtein interaction89%CHRNA1Protein interaction77%CHRNA4Protein interaction77%CHRNA7Protein interaction77%CHRNB1Protein interaction77%
Tissue Expression6 tissues
Brain
100%
Ovary
27%
Liver
21%
Bone Marrow
19%
Lung
13%
Heart
0%
Gene Interaction Network
Click a node to explore
CHRNB4JAK2HYKKCHRNA1CHRNA4CHRNA7CHRNB1
PROTEIN STRUCTURE
Preparing viewer…
PDB8ZRN Β· 3.25 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.40–0.77]
RankingsWhere CHRNB4 stands among ~20K protein-coding genes
  • #3,156of 20,598
    Most Researched144 Β· top quartile
  • #468of 1,025
    FDA-Approved Drug Targets3
  • #3,958of 5,498
    Most Pathogenic Variants3
  • #6,260of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedCHRNB4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mechanisms of Nicotine Addiction.
PMID: 32341069
Cold Spring Harb Perspect Med Β· 2021
1.00
2
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J Β· 2022
0.90
3
Identification of CHRNB4 as a Diagnostic/Prognostic Indicator and Therapeutic Target in Human Esophageal Squamous Cell Carcinoma.
PMID: 33304845
Front Oncol Β· 2020
0.80
4
Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.
PMID: 11450844
J Hum Genet Β· 2001
0.70
5
The CHRNA5-A3-B4 Gene Cluster and Smoking: From Discovery to Therapeutics.
PMID: 27871728
Trends Neurosci Β· 2016
0.60