CHRNA2 - cholinergic receptor nicotinic alpha 2 subunit Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1135

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acetylcholine receptor activity	IDA IDA: Inferred from direct assay	8906617	GOA
enables acetylcholine-gated monoatomic cation-selective channel activity	IDA IDA: Inferred from direct assay	8906617	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in signal transduction	IDA IDA: Inferred from direct assay	8906617	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of acetylcholine-gated channel complex	IDA IDA: Inferred from direct assay	8906617	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHRNA2 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
500
529 a.a.

Protein Preferred Names	Protein Names
neuronal acetylcholine receptor subunit alpha-2	acetylcholine receptor, nicotinic, alpha 2 (neuronal)

CHRNA2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84603	CHRNA2 Antibody (YA4300)	WB, ELISA	Human, Rat
HY-P84603A	CHRNA2 Antibody (YA4300)(PBS only)	WB, ELISA	Human, Rat

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02667	CHRNA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	CHRNA2	NCBI