CHRNB2 - cholinergic receptor nicotinic beta 2 subunit Gene

Homo sapiens

Also known as EFNL3; nAChRB2

Gene ID: 1141 | Gene type: protein coding

About CHRNB2

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:154,567,778-154,580,013 (from NCBI)

This gene has 5 transcripts (splice variants), 198 orthologues, 45 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 9.5), adrenal (RPKM 0.7) and 1 other tissue.

Summary

Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]

CHRNB2 Products(1)

mRNA	Protein	Name
NM_000748.3	NP_000739.1	neuronal acetylcholine receptor subunit beta-2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables acetylcholine binding	IMP IMP: Inferred from mutant phenotype	15964197	GOA
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
enables protein binding	IPI IPI: Inferred from physical interaction	8663494	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in behavioral response to nicotine	IMP IMP: Inferred from mutant phenotype	17559419	GOA
involved in cognition	IMP IMP: Inferred from mutant phenotype	17559419	GOA
involved in learning	IMP IMP: Inferred from mutant phenotype	15964197	GOA
involved in memory	IMP IMP: Inferred from mutant phenotype	15964197	GOA
involved in nervous system process	IMP IMP: Inferred from mutant phenotype	17900292	GOA
involved in response to hypoxia	IDA IDA: Inferred from direct assay	12189247	GOA
involved in response to nicotine	IDA IDA: Inferred from direct assay	12189247	GOA
involved in signal transduction	IDA IDA: Inferred from direct assay	8906617	GOA
involved in visual learning	IMP IMP: Inferred from mutant phenotype	15964197	GOA

Cellular Component GO Annotation	Evidence	Reference	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

CHRNB2 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
502 a.a.

Protein Preferred Names

Protein Names

neuronal acetylcholine receptor subunit beta-2

acetylcholine receptor, nicotinic, beta 2 (neuronal)

CHRNB2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CHRNB2	P17787	CHRNA5	Homo sapiens	P30532	Anti Bait CoIP	8663494
Intra	CHRNB2	P17787	CHRNA5	Homo sapiens	P30532	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Epilepsy, Nocturnal Frontal Lobe, 3

ENFL3	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 3
Nocturnal Frontal Lobe Epilepsy 3	Epilepsy, Frontal Lobe, Nocturnal, Type 3
Epilepsy, Nocturnal Frontal Lobe, Type 3

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

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, Nocturnal Frontal Lobe, 2

Epilepsy, Nocturnal Frontal Lobe, Type 2	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2
ENFL2	Nocturnal Frontal Lobe Epilepsy 2

Focal Epilepsy

Partial Epilepsy	Epilepsies, Partial
Localisation-Related Epilepsy

Early Onset Absence Epilepsy

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

Sudden Infant Death Syndrome

SIDS	Sudden Infant Death Syndrome, Susceptibility To
Cot Death	Crib Death
Sudden Death Of Nonspecific Cause In Infancy	Sudden Infant Death
Death, Sudden, Syndrome, Infant

Reflex Epilepsy

Epilepsy, Reflex	Epilepsy, Sensory-Induced
Epilepsy Reflex

Benign Neonatal Seizures

Benign Neonatal Epilepsy	Benign Familial Neonatal Seizures
Benign Neonatal Convulsions	Benign Familial Neonatal Convulsions
Benign Familial Neonatal Epilepsy	Bfne
Bfns	Seizures, Benign Neonatal
Neonatal Convulsions Benign	Epilepsy, Benign Neonatal
Epilepsy, Benign Neonatal, 2	Benign Familial Convulsion
Familial Benign Neonatal Epilepsy

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

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

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Substance Dependence

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]

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

Familial Febrile Seizures

Familial Febrile Convulsions	Feb
Febrile Seizures, Familial

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

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

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

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02675	CHRNB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CHRNB2	RGD	RGD:2350
Bos taurus	CHRNB2	VGNC	VGNC:27331
Macaca mulatta	CHRNB2	VGNC	VGNC:71050
Canis familiaris	CHRNB2	VGNC	VGNC:39243
Mus musculus	CHRNB2	MGD	MGI:87891
Felis catus	CHRNB2	VGNC	VGNC:107857

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