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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CHRNA2
cholinergic receptor nicotinic alpha 2 subunit
Chromosome 8 Β· 8p21.2
NCBI Gene: 1135Ensembl: ENSG00000120903.13HGNC: HGNC:1956UniProt: Q15822
50PubMed Papers
22Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
acetylcholine receptor activityacetylcholine-gated monoatomic cation-selective channel activitysignal transductionplasma membraneautosomal dominant nocturnal frontal lobe epilepsyfamilial sleep-related hypermotor epilepsychronic obstructive pulmonary diseasebenign familial infantile epilepsy
✦AI Summary

CHR8 encodes the alpha-2 subunit of neuronal nicotinic acetylcholine receptors (nAChRs), which form pentameric ligand-gated cation channels with high calcium permeability 1. These receptors function as excitatory neurotransmitter receptors mediating synaptic transmission in the nervous system and neuromuscular junction, with CHR8 forming heteropentameric complexes with CHR8 and CHR8 subunits 23. Beyond neuronal function, CHR8 plays critical roles in metabolic regulation through non-neuronal cholinergic signaling. In adipose tissue, CHR8 mediates beige fat activation independently of adrenergic pathways, responding to acetylcholine from immune cells to regulate thermogenesis and energy homeostasis 4. In hepatocytes, CHR8 activation by acetylcholine-producing macrophages coordinates defensive programs against metabolic dysfunction-associated steatohepatitis (MASH), protecting against steatosis, inflammation, and fibrosis 5. Clinically, CHR8 mutations cause autosomal dominant nocturnal frontal lobe epilepsy, with identified mutations showing loss-of-function effects that reduce receptor function by approximately 80% 6. The gene also shows genetic associations with substance use disorders, including cannabis use disorder and nicotine dependence, particularly in European American and African American populations 78.

Sources cited
1
CHRNA2 forms pentameric ligand-gated cation channels with high calcium permeability
PMID: 18723036
2
CHRNA2 forms heteropentameric receptors with CHRNB2 and CHRNB4 subunits
PMID: 24467848
3
CHRNA2 plays a role in nicotine dependence
PMID: 27493220
4
CHRNA2 regulates beige fat activation through adrenergic-independent signaling
PMID: 32533922
5
CHRNA2 in hepatocytes protects against MASH development through defensive programs
PMID: 39028754
6
CHRNA2 mutations cause autosomal dominant nocturnal frontal lobe epilepsy with loss-of-function effects
PMID: 30809122
7
CHRNA2 locus shows genome-wide significant association with cannabis use disorder
PMID: 33096046
8
CHRNA2 shows significant associations with nicotine dependence in European American and African American populations
PMID: 24253422
Disease Associationsβ“˜22
autosomal dominant nocturnal frontal lobe epilepsyOpen Targets
0.59Moderate
familial sleep-related hypermotor epilepsyOpen Targets
0.48Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.40Weak
benign familial infantile epilepsyOpen Targets
0.38Weak
sleep-related hypermotor epilepsyOpen Targets
0.37Weak
cervical carcinomaOpen Targets
0.35Weak
lung cancerOpen Targets
0.34Weak
Alzheimer diseaseOpen Targets
0.33Weak
emphysemaOpen Targets
0.33Weak
rheumatic diseaseOpen Targets
0.27Weak
Benign familial neonatal-infantile seizuresOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
schizophreniaOpen Targets
0.19Weak
smoking cessationOpen Targets
0.18Weak
bipolar disorderOpen Targets
0.16Weak
response to lithium ionOpen Targets
0.16Weak
SeizureOpen Targets
0.15Weak
Intellectual disabilityOpen Targets
0.15Weak
smoking initiationOpen Targets
0.14Weak
epilepsyOpen Targets
0.12Weak
Epilepsy, nocturnal frontal lobe, 4UniProt
Seizures, benign familial infantile, 6UniProt
Pathogenic Variants4
NM_000742.4(CHRNA2):c.487G>A (p.Ala163Thr)Likely pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 4
β˜…β˜†β˜†β˜†2025β†’ Residue 163
NM_000742.4(CHRNA2):c.1293dup (p.Ser432fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 432
NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe)Pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 4
β˜†β˜†β˜†β˜†2018β†’ Residue 297
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn)Pathogenic
Autosomal dominant nocturnal frontal lobe epilepsy 4
β˜†β˜†β˜†β˜†2006β†’ Residue 279
View on ClinVar β†—
Related Genes
CHRNB3Protein interaction77%GABBR2Protein interaction77%CHRNA6Protein interaction76%OPRL1Protein interaction76%PNOCProtein interaction76%CHRNB1Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
50%
Lung
5%
Liver
2%
Ovary
1%
Heart
0%
Gene Interaction Network
Click a node to explore
CHRNA2CHRNB3GABBR2CHRNA6OPRL1PNOCCHRNB1
PROTEIN STRUCTURE
Preparing viewer…
PDB5FJV Β· 3.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.91 [0.70–1.20]
RankingsWhere CHRNA2 stands among ~20K protein-coding genes
  • #8,788of 20,598
    Most Researched50
  • #3,794of 5,498
    Most Pathogenic Variants4
  • #12,550of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedCHRNA2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A large-scale genome-wide association study meta-analysis of cannabis use disorder.
PMID: 33096046
Lancet Psychiatry Β· 2020
1.00
2
Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
PMID: 28604730
Nat Genet Β· 2017
0.90
3
CHRNA2: a new paradigm in beige thermoregulation and metabolism.
PMID: 34952750
Trends Cell Biol Β· 2022
0.80
4
Signaling through the nicotinic acetylcholine receptor in the liver protects against the development of metabolic dysfunction-associated steatohepatitis.
PMID: 39028754
PLoS Biol Β· 2024
0.70
5
Adrenergic-Independent Signaling via CHRNA2 Regulates Beige Fat Activation.
PMID: 32533922
Dev Cell Β· 2020
0.60