CHRNB2 - cholinergic receptor nicotinic beta 2 subunit Gene

Also Known as EFNL3; nAChRB2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1141

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	References	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	References	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	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

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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	CHRNB2	NCBI