CHRNA2 Chromosome 8
Cholinergic receptor nicotinic alpha 2 subunit
Upload your DNA to see your personal genotypes for variants in CHRNA2.
What This Gene Does
Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Cholinergic receptors nicotinic subunits
Locus Type
gene with protein product
Location
8p21.2
Ensembl
ENSG00000120903
Associated Conditions (10)
Seizures
benign familial infantile
6
Autosomal dominant nocturnal frontal lobe epilepsy
Inborn genetic diseases
Autosomal dominant nocturnal frontal lobe epilepsy 4
CHRNA2-related disorder
Myoclonic epilepsy
Intellectual disability
Seizure
Key Variants
RS1018084204
Conflicting classifications of pathogenicity
Seizures, benign familial infantile, 6
Health Risk
RS1057523368
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS1060503072
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS1064795580
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS1299700179
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS1341647863
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS137965290
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS138682847
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy 4
Health Risk
RS1394301488
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS1405035752
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
Health Risk
RS141721605
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
Health Risk
RS144185168
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
Health Risk
All Variants (81)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS757567429 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS758255768 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS758848783 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS76140563 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS765772636 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS766076722 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy 4 |
| RS767138285 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS767619637 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 4, Inborn genetic diseases |
| RS768151492 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 4 |
| RS768590131 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS769608818 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS770447351 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS771693410 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS771994243 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS773515773 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS774054592 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS775714882 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Seizure, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS77710085 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS777510962 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS778191765 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS780941610 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS796052303 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS796052305 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS796052307 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, CHRNA2-related disorder, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS879442926 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy 4 |
| RS886042322 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy 4 |
| RS886044444 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS888244000 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS751842443 | Health Risk | Likely pathogenic | — |
| RS104894063 | Health Risk | Pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy 4 |
| RS1554514507 | Health Risk | Pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy 4 |