1. Gene
  2. CHRNA2 - cholinergic receptor nicotinic alpha 2 subunit Gene

CHRNA2 - cholinergic receptor nicotinic alpha 2 subunit Gene

Homo sapiens
Gene ID: 1135 | Gene type: protein coding

About CHRNA2

Cytogenetic location: 8p21.2 Genomic coordinates (GRCh38): 8:27,459,756-27,479,261 (from NCBI)

This gene has 13 transcripts (splice variants), 250 orthologues, 45 paralogues and is associated with 3 phenotypes. Restricted expression toward prostate (RPKM 15.4).

Summary

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]

CHRNA2 Products(6)

mRNA Protein Name
NM_000742.4 NP_000733.2 neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor
NM_001282455.2 NP_001269384.1 neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor
NM_001347705.2 NP_001334634.1 neuronal acetylcholine receptor subunit alpha-2 isoform 3
NM_001347706.2 NP_001334635.1 neuronal acetylcholine receptor subunit alpha-2 isoform 3
NM_001347707.2 NP_001334636.1 neuronal acetylcholine receptor subunit alpha-2 isoform 4
NM_001347708.2 NP_001334637.1 neuronal acetylcholine receptor subunit alpha-2 isoform 4

CHRNA2 Protein Structure

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (59 - 264)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (272 - 520)

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  • 529 a.a.
Protein Preferred Names Protein Names

neuronal acetylcholine receptor subunit alpha-2

acetylcholine receptor, nicotinic, alpha 2 (neuronal)

Related Diseases

Diseases Alias
Epilepsy, Nocturnal Frontal Lobe, 4

ENFL4

Epilepsy, Nocturnal Frontal Lobe, Type 4

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4

Seizures, Benign Familial Infantile, 6

Epilepsy, Familial, With Nocturnal Wandering And Ictal Fear

Nocturnal Frontal Lobe Epilepsy 4

Familial Epilepsy With Nocturnal Wandering And Ictal Fear

BFIS6

Bfic6

Convulsions, Benign Familial Infantile, 6

Epilepsy, Frontal Lobe, Nocturnal, Type 4

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle

Autosomal Dominant Sleep-Related Hypermotor Epilepsy

Enfl

Benign Familial Infantile Seizures 6

Benign Familial Infantile Seizures, 6

Nocturnal Frontal Lobe Epilepsy-4

Enfl1

Epilepsy, Nocturnal Frontal Lobe, 1

Epilepsy, Nocturnal Frontal Lobe, Type 1

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures

Bfie

Benign Familial Infantile Convulsion

Bfic

Bfis

Benign Familial Infantile Convulsions

Familial Benign Neonatal Epilepsy

Watanabe-Vigevano Syndrome

Focal Epilepsy

Partial Epilepsy

Epilepsies, Partial

Localisation-Related Epilepsy

Hallucinogen Dependence

Hallucinogen Addiction

Cannabis Dependence

Marijuana Abuse

Cannabinoid Addiction

Cannabinoid Dependence

Cannabis Addiction

Barre-Lieou Syndrome

Cervicocranial Syndrome

Posterior Cervical Sympathetic Syndrome

Reflex Epilepsy

Epilepsy, Reflex

Epilepsy, Sensory-Induced

Epilepsy Reflex

Epilepsy, Familial Temporal Lobe, 1

ETL1

Adpeaf

Adlte

Epilepsy, Partial, With Auditory Features

Autosomal Dominant Partial Epilepsy With Auditory Features

Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

Familial Temporal Lobe Epilepsy 1

Partial Epilepsy With Auditory Features

Autosomal Dominant Lateral Temporal Lobe Epilepsy

Lateral Temporal Lobe Epilepsy Autosomal Dominant

Epilepsy, Temporal Lobe, Familial, Type 1

Early Onset Absence Epilepsy
Tobacco Addiction

Nicotine Dependence

Tobacco Addiction, Susceptibility To

Nicotine Addiction

Tobacco Use Disorder

Smoking Habit

Nicotine Dependence, Protection Against

Nicotine Addiction, Protection From

Cigarette Habituation

Cigarette Habituation, Susceptibility To

Smoking Habit, Susceptibility To

Nicotine Dependence, Susceptibility To

Nicotine Addiction, Susceptibility To

Addiction, Tobacco, Susceptibility To

Compulsive Tobacco User Syndrome

Tobacco Dependence

Tobacco Dependence Syndrome

Cigarette Addiction

Cigarette Dependence

Smoking Addiction

Smokers Syndrome

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy In Infancy

Smei

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Developmental And Epileptic Encephalopathy, 6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CHRNA2 MGD MGI:87886
Canis familiaris CHRNA2 VGNC VGNC:39237
Macaca mulatta CHRNA2 VGNC VGNC:71046
Rattus norvegicus CHRNA2 RGD RGD:621533
Felis catus CHRNA2 VGNC VGNC:60879
Bos taurus CHRNA2 VGNC VGNC:27324