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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CHRNB2
cholinergic receptor nicotinic beta 2 subunit
Chromosome 1 · 1q21.3
NCBI Gene: 1141Ensembl: ENSG00000160716.6HGNC: HGNC:1962UniProt: P17787
135PubMed Papers
21Diseases
16Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
synapsesignal transductionsynaptic transmission, cholinergicacetylcholine receptor signaling pathwayautosomal dominant nocturnal frontal lobe epilepsynicotine dependencefamilial sleep-related hypermotor epilepsysleep-related hypermotor epilepsy
✦AI Summary

CHR1 encodes the β2 subunit of neuronal acetylcholine receptors (nAChRs), which are pentameric ligand-gated cation channels with high calcium permeability 1. The β2 subunit assembles with α4, α3, α6, and α5 subunits to form functional heteropentameric nAChRs that mediate synaptic transmission in the nervous system 2. These receptors exist in two major stoichiometric forms—(α4)3(β2)2 and (α4)2(β2)3—which differ in unitary conductance, calcium permeability, and acetylcholine sensitivity 3. nAChRs containing α4β2 are expressed broadly in the brain and modulate dopamine and GABA release at nerve terminals 4. CHR1 variants influence nicotine dependence susceptibility through gene-gene interactions with CHR1, NTRK2, and BDNF 5. Polymorphisms in the CHR1 promoter region affect subjective responses to nicotine and gene expression levels, with the minor allele of rs2072658 associated with decreased expression 6. CHR1 variants also predict responsiveness to nicotine replacement therapy for smoking cessation, with the GG genotype of rs2072661 associated with improved abstinence outcomes 7. Functionally, CHR1 mutations and polymorphisms contribute to various neurological and psychiatric disorders including epilepsy and neurodegenerative conditions 8.

Sources cited
1
CHRNB2 is a component of pentameric ligand-gated cation channels with high calcium permeability
PMID: 22361591
2
CHRNB2 forms heteropentameric neuronal acetylcholine receptors with CHRNA4, CHRNA3, CHRNA6, and other subunits
PMID: 16835356
3
Heteropentameric nAChRs exist in two stoichiometric forms with different functional properties
PMID: 27698419
4
nAChRs containing CHRNB2 are expressed in basal forebrain cholinergic neurons and modulate neurotransmitter release
PMID: 33239400
5
CHRNB2 affects nicotine dependence through interactions with CHRNA4, NTRK2, and BDNF genes
PMID: 18534558
6
CHRNB2 promoter polymorphism rs2072658 affects gene expression and subjective responses to nicotine
PMID: 20854418
7
CHRNB2 rs2072661 GG genotype predicts better response to nicotine replacement therapy for smoking cessation
PMID: 19755656
8
CHRNB2 variants contribute to neurodegenerative disorders and brain abnormalities
PMID: 39193833
Disease Associationsⓘ21
autosomal dominant nocturnal frontal lobe epilepsyOpen Targets
0.69Moderate
nicotine dependenceOpen Targets
0.68Moderate
familial sleep-related hypermotor epilepsyOpen Targets
0.50Moderate
sleep-related hypermotor epilepsyOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.45Moderate
smoking cessationOpen Targets
0.42Moderate
major depressive disorderOpen Targets
0.38Weak
depressive disorderOpen Targets
0.38Weak
eye diseaseOpen Targets
0.37Weak
dry eye syndromeOpen Targets
0.37Weak
COVID-19Open Targets
0.36Weak
smoking behaviorOpen Targets
0.34Weak
alcohol dependenceOpen Targets
0.33Weak
severe acute respiratory syndromeOpen Targets
0.32Weak
schizophreniaOpen Targets
0.30Weak
cannabis dependenceOpen Targets
0.29Weak
lung cancerOpen Targets
0.27Weak
acute coronary syndromeOpen Targets
0.26Weak
lung carcinomaOpen Targets
0.26Weak
chronic obstructive pulmonary diseaseOpen Targets
0.26Weak
Epilepsy, nocturnal frontal lobe, 3UniProt
Pathogenic Variants7
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)Pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 3|Autosomal dominant nocturnal frontal lobe epilepsy|not provided
★★☆☆2025→ Residue 287
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala)Pathogenic
not provided|Autosomal dominant nocturnal frontal lobe epilepsy
★★☆☆2025→ Residue 308
NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu)Pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 3|not provided
★★☆☆2025→ Residue 287
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)Pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 3|not provided|Autosomal dominant nocturnal frontal lobe epilepsy|Inborn genetic diseases|Autosomal dominant nocturnal frontal lobe epilepsy 1
★★☆☆2024→ Residue 287
NM_000748.3(CHRNB2):c.1010T>G (p.Val337Gly)Likely pathogenic
not provided
★☆☆☆2024→ Residue 337
NM_000748.3(CHRNB2):c.256-1G>ALikely pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 3
★☆☆☆2024
NM_000748.3(CHRNB2):c.845T>A (p.Leu282His)Likely pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 3
★☆☆☆2019→ Residue 282
View on ClinVar ↗
Drug Targets16
ABT-560Phase I
Neuronal acetylcholine receptor; alpha4/beta2 modulator
Cognitive impairment
ALTINICLINEUNKNOWN
Neuronal acetylcholine receptor; alpha4/beta2 agonist
Parkinson disease
AZD1446Phase II
Neuronal acetylcholine receptor; alpha4/beta2 agonist
Alzheimer disease
CP-601927Phase II
Neuronal acetylcholine receptor; alpha4/beta2 partial agonist
gastrointestinal disease
CYTISINICLINEApproved
Neuronal acetylcholine receptor; alpha4/beta2 partial agonist
nicotine dependence
DEXMECAMYLAMINEPhase III
Neuronal acetylcholine receptor; alpha4/beta2 antagonist
depressive disorder
DIANICLINEPhase III
Neuronal acetylcholine receptor; alpha4/beta2 partial agonist
nicotine dependence
ISPRONICLINEPhase II
Neuronal acetylcholine receptor; alpha4/beta2 partial agonist
Alzheimer disease
NICOTINEApproved
Neuronal acetylcholine receptor; alpha4/beta2 agonist
nicotine dependence
NICOTINE POLACRILEXPhase III
Neuronal acetylcholine receptor; alpha4/beta2 agonist
nicotine dependence
POZANICLINEPhase II
Nicotinic acetylcholine receptor alpha4/beta2/alpha5 partial agonist
anxiety disorder
SIMPINICLINEPhase II
Neuronal acetylcholine receptor; alpha4/beta2 agonist
irritable bowel syndrome
SOFINICLINEPhase II
Neuronal acetylcholine receptor; alpha4/beta2 agonist
attention deficit hyperactivity disorder
TC-2216Phase I
Neuronal acetylcholine receptor; alpha4/beta2 antagonist
mood disorder
VARENICLINEApproved
Neuronal acetylcholine receptor; alpha4/beta2 agonist
VARENICLINE TARTRATEApproved
Neuronal acetylcholine receptor; alpha4/beta2 agonist
nicotine dependence
Related Genes
JAK2Protein interaction90%CHRNEProtein interaction85%LYNX1Protein interaction76%CHRNA1Protein interaction76%CHRNDProtein interaction76%CHRM2Protein interaction71%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
2%
Ovary
1%
Liver
1%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CHRNB2JAK2CHRNELYNX1CHRNA1CHRNDCHRM2
PROTEIN STRUCTURE
Preparing viewer…
PDB8ST4 · 2.35 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.62–1.12]
RankingsWhere CHRNB2 stands among ~20K protein-coding genes
  • #3,424of 20,598
    Most Researched135 · top quartile
  • #409of 1,025
    FDA-Approved Drug Targets4
  • #3,172of 5,498
    Most Pathogenic Variants7
  • #11,463of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedCHRNB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Gene-gene interactions among CHRNA4, CHRNB2, BDNF, and NTRK2 in nicotine dependence.
PMID: 18534558
Biol Psychiatry · 2008
1.00
2
CHRNB2 promoter region: association with subjective effects to nicotine and gene expression differences.
PMID: 20854418
Genes Brain Behav · 2011
0.90
3
Clinical, molecular, physiologic, and therapeutic feature of patients with CHRNA4 and CHRNB2 deficiency: A systematic review.
PMID: 39193833
J Neurochem · 2025
0.80
4
Possible association of nicotinic acetylcholine receptor gene (CHRNA4 and CHRNB2) polymorphisms with nicotine dependence in Japanese males: an exploratory study.
PMID: 23037950
Pharmacopsychiatry · 2013
0.70
5
The possible role of maternal bonding style and CHRNB2 gene polymorphisms in nicotine dependence and related depressive phenotype.
PMID: 25640319
Prog Neuropsychopharmacol Biol Psychiatry · 2015
0.60