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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CHRNB3
cholinergic receptor nicotinic beta 3 subunit
Chromosome 8 · 8p11.21
NCBI Gene: 1142Ensembl: ENSG00000147432.7HGNC: HGNC:1963UniProt: Q05901
69PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
acetylcholine receptor signaling pathwayacetylcholine-gated monoatomic cation-selective channel activityacetylcholine-gated channel complexacetylcholine receptor activitynicotine dependencesmoking behaviorsmoking cessationkeratoconjunctivitis
✦AI Summary

CHR8 encodes the β3 subunit of neuronal nicotinic acetylcholine receptors (nAChRs), which function as pentameric ligand-gated ion channels mediating cholinergic neurotransmission. Unlike other β subunits, CHR8 has an accessory role and requires co-assembly with other β subunits to form functional receptors 12. The β3 subunit participates in pentameric assemblies with various α and β subunits including CHR8, CHR8, CHR8, CHR8, and CHR8, modulating receptor assembly and increasing sensitivity to nicotine 12. CHR8 is particularly important in addiction-related behaviors, with genetic variants in the CHR8-CHR8 gene cluster on chromosome 8 strongly associated with nicotine dependence and smoking behavior 3. Variants also contribute to alcohol and cocaine dependence risk, with rare missense variants showing significant associations with both alcohol and cocaine dependence symptoms 4. The gene shows clinical relevance in multiple contexts: protective variants are associated with reduced lung cancer risk in non-smokers 5, while functional promoter variants affect Parkinson's disease risk and smoking behavior in patients 6. CHR8 expression is abundant in human brain and correlates with dopaminergic and GABAergic receptor expression 7.

Sources cited
1
CHRNB3 has accessory role requiring co-assembly with other β subunits
PMID: 11118490
2
CHRNB3 modulates receptor assembly and increases nicotine sensitivity
PMID: 16835356
3
CHRNB3-CHRNA6 cluster variants are crucial in nicotine dependence
PMID: 27327258
4
Rare CHRNB3 missense variants associated with alcohol and cocaine dependence
PMID: 24057674
5
CHRNB3 variants show protective effects against lung cancer in non-smokers
PMID: 21831805
6
CHRNB3 promoter variants affect Parkinson's disease and smoking
PMID: 24731518
7
CHRNB3 expression correlates with dopaminergic and GABAergic receptors in brain
PMID: 34368810
Disease Associationsⓘ20
nicotine dependenceOpen Targets
0.44Moderate
smoking behaviorOpen Targets
0.32Weak
smoking cessationOpen Targets
0.31Weak
keratoconjunctivitisOpen Targets
0.22Weak
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.06Suggestive
smoking initiationOpen Targets
0.05Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.05Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.05Suggestive
schizophrenia 15Open Targets
0.05Suggestive
Norrie diseaseOpen Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
intellectual developmental disorder, autosomal dominant 69Open Targets
0.04Suggestive
Brunner syndromeOpen Targets
0.04Suggestive
Monoamine oxidase A deficiencyOpen Targets
0.04Suggestive
Phelan-McDermid syndromeOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
Potocki-Lupski syndromeOpen Targets
0.03Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CHRNA5Shared pathway88%CHRNA2Protein interaction77%CYP2A6Protein interaction73%CHRNA1Protein interaction72%CHRNEProtein interaction72%CHRNA9Protein interaction72%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
9%
Ovary
0%
Liver
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CHRNB3CHRNA5CHRNA2CYP2A6CHRNA1CHRNECHRNA9
PROTEIN STRUCTURE
Preparing viewer…
PDB8A5U · 2.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.57–1.07]
RankingsWhere CHRNB3 stands among ~20K protein-coding genes
  • #6,788of 20,598
    Most Researched69
  • #10,747of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedCHRNB3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetics of alcoholism.
PMID: 25399692
Curr Psychiatry Rep · 2014
1.00
2
Crucial roles of the CHRNB3-CHRNA6 gene cluster on chromosome 8 in nicotine dependence: update and subjects for future research.
PMID: 27327258
Transl Psychiatry · 2016
0.90
3
Combined effect between CHRNB3-CHRNA6 region gene variant (rs6474412) and smoking in psoriasis vulgaris severity.
PMID: 24792900
Gene · 2014
0.80
4
[Human chromosome 8p11 (CHRNB3-CHRNA6) region gene polymorphisms and susceptibility to lung cancer in Chinese Han population].
PMID: 21831805
Yi Chuan · 2011
0.70
5
Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence.
PMID: 24057674
Hum Mol Genet · 2014
0.60