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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CHRNA4
cholinergic receptor nicotinic alpha 4 subunit
Chromosome 20 · 20q13.33
NCBI Gene: 1137Ensembl: ENSG00000101204.18HGNC: HGNC:1958UniProt: B4DK78
219PubMed Papers
21Diseases
16Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairIon ChannelReceptorTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
acetylcholine receptor activityresponse to oxidative stresssignal transductionsynaptic transmission, cholinergicnicotine dependenceautosomal dominant nocturnal frontal lobe epilepsychronic obstructive pulmonary diseasesmoking cessation
✦AI Summary

CHR20 encodes the α4 subunit of neuronal nicotinic acetylcholine receptors (nAChRs), which form pentameric, ligand-gated cation channels with high calcium permeability 1. These receptors mediate synaptic transmission by controlling neurotransmitter release, including dopamine, glutamate, and GABA 2. CHR20 is the most abundant nAChR subtype in the central nervous system and assembles with CHR20 and CHR20 subunits in two stoichiometric forms that differ in conductance, calcium permeability, and acetylcholine sensitivity 3. Clinically, CHR20 mutations cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a paroxysmal movement disorder characterized by brief dyskinetic attacks during sleep 4. CHR20 variants are also implicated in neurodevelopmental and neurodegenerative conditions including ADHD, Alzheimer's disease, Parkinson's disease, and ALS 5. Beyond neurological disease, hepatocyte CHR20 expression mediates metabolic dysfunction-associated steatohepatitis (MASH) progression through acetylcholine-induced calcium signaling and inflammatory pathways; CHR20 inhibition protected mice from diet-induced MASH 6. Genetic variation in CHR20 significantly influences smoking behavior and nicotine dependence. Polymorphisms rs1044394 and rs2236196 are associated with cigarettes smoked per day and DSM-IV nicotine dependence diagnosis 7, while rs2236196 predicts smoking cessation treatment outcomes 8. Additionally, CHR20 variants associate with spatial attention and cognitive function 9.

Sources cited
1
CHRNA4 forms pentameric ligand-gated cation channels with high calcium permeability and influences channel kinetics
PMID: 22361591
2
CHRNA4 is the most abundant nAChR subtype in CNS and exists in two stoichiometric forms with different functional properties
PMID: 27698419
3
The two CHRNA4-containing stoichiometric forms differ in unitary conductance, calcium permeability, and ACh sensitivity
PMID: 29720657
4
CHRNA4 mutations cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a paroxysmal movement disorder
PMID: 10323309
5
CHRNA4 variants are associated with AD, ADHD, ALS, PD, and brain abnormalities; variants may impact neurodegenerative disorders
PMID: 39193833
6
Hepatocyte CHRNA4 mediates MASH progression through acetylcholine-induced calcium signaling and inflammatory pathways; CHRNA4 inhibition protects from diet-induced MASH
PMID: 38056431
7
CHRNA4 polymorphisms rs1044394 and rs2236196 associate with nicotine dependence and cigarettes smoked per day
PMID: 21445957
8
CHRNA4 rs2236196 associates with smoking cessation outcomes in clinical trials
PMID: 17768273
9
CHRNA4 variants associate with spatial attention and cognitive function
PMID: 18591481
Disease Associationsⓘ21
nicotine dependenceOpen Targets
0.73Strong
autosomal dominant nocturnal frontal lobe epilepsyOpen Targets
0.64Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.59Moderate
smoking cessationOpen Targets
0.55Moderate
familial sleep-related hypermotor epilepsyOpen Targets
0.51Moderate
sleep-related hypermotor epilepsyOpen Targets
0.46Moderate
lung cancerOpen Targets
0.45Moderate
smoking initiationOpen Targets
0.43Moderate
chronic lung diseaseOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.42Moderate
bronchus cancerOpen Targets
0.41Moderate
chronic bronchitisOpen Targets
0.40Weak
major depressive disorderOpen Targets
0.39Weak
depressive disorderOpen Targets
0.38Weak
respiratory failureOpen Targets
0.38Weak
respiratory system cancerOpen Targets
0.37Weak
eye diseaseOpen Targets
0.37Weak
dry eye syndromeOpen Targets
0.37Weak
COVID-19Open Targets
0.36Weak
emphysemaOpen Targets
0.35Weak
Epilepsy, nocturnal frontal lobe, 1UniProt
Pathogenic Variants8
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe)Pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 1|not provided|Autosomal dominant nocturnal frontal lobe epilepsy
★★☆☆2025→ Residue 280
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)Pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 1|not provided|Autosomal dominant nocturnal frontal lobe epilepsy|Inborn genetic diseases
★★☆☆2025→ Residue 284
NM_000744.7(CHRNA4):c.823A>T (p.Ile275Phe)Likely pathogenic
not provided|Autosomal dominant nocturnal frontal lobe epilepsy
★★☆☆2024→ Residue 275
NM_000744.7(CHRNA4):c.938C>A (p.Thr313Asn)Likely pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy
★☆☆☆2025→ Residue 313
NM_000744.7(CHRNA4):c.481T>C (p.Cys161Arg)Likely pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 1
★☆☆☆2024→ Residue 161
NM_000744.7(CHRNA4):c.1113_1114insTATG (p.Ile372fs)Likely pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 1
★☆☆☆2022→ Residue 372
NM_000744.7(CHRNA4):c.544T>C (p.Trp182Arg)Likely pathogenic
not provided
★☆☆☆2012→ Residue 182
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup)Pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 1
☆☆☆☆2018→ Residue 291
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
KCNQ3Protein interaction100%KCNQ2Protein interaction92%JAK2Protein interaction90%CHRNEProtein interaction85%IGBP1Protein interaction81%CHRNDProtein interaction78%
Tissue Expression6 tissues
Liver
100%
Brain
3%
Ovary
0%
Bone Marrow
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CHRNA4KCNQ3KCNQ2JAK2CHRNEIGBP1CHRND
PROTEIN STRUCTURE
Preparing viewer…
PDB8ST4 · 2.35 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.45–0.83]
RankingsWhere CHRNA4 stands among ~20K protein-coding genes
  • #1,873of 20,598
    Most Researched219 · top 10%
  • #395of 1,025
    FDA-Approved Drug Targets4
  • #3,030of 5,498
    Most Pathogenic Variants8
  • #7,136of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedCHRNA4
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Hepatocyte CHRNA4 mediates the MASH-promotive effects of immune cell-produced acetylcholine and smoking exposure in mice and humans.
PMID: 38056431
Cell Metab · 2023
1.00
2
Attention-deficit/hyperactive disorder updates.
PMID: 36211978
Front Mol Neurosci · 2022
0.90
3
Epistasis between APOE and nicotinic receptor gene CHRNA4 in age related cognitive function and decline.
PMID: 20331911
J Int Neuropsychol Soc · 2010
0.84
4
Clinical, molecular, physiologic, and therapeutic feature of patients with CHRNA4 and CHRNB2 deficiency: A systematic review.
PMID: 39193833
J Neurochem · 2025
0.80
5
Modulation of nicotine effects on selective attention by DRD2 and CHRNA4 gene polymorphisms.
PMID: 25647695
Psychopharmacology (Berl) · 2015
0.76