CHRNA4 - cholinergic receptor nicotinic alpha 4 subunit Gene

Also Known as EBN; BFNC; EBN1; NACHR; NACRA4; NACHRA4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1137

About CHRNA4

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:63,343,223-63,361,349 (from NCBI)

This gene has 20 transcripts (splice variants), 207 orthologues, 45 paralogues and is associated with 4 phenotypes. Biased expression in liver (RPKM 3.9), brain (RPKM 3.0) and 4 other tissues.

Summary

This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

CHRNA4 Products (2)

mRNA	Protein	Name
NM_000744.7	NP_000735.1	neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor
NM_001256573.2	NP_001243502.1	neuronal acetylcholine receptor subunit alpha-4 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	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
enables protein binding	IPI IPI: Inferred from physical interaction	16238698	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in DNA repair	IMP IMP: Inferred from mutant phenotype	16332175	GOA
involved in behavioral response to nicotine	IMP IMP: Inferred from mutant phenotype	17955458	GOA
involved in cognition	IMP IMP: Inferred from mutant phenotype	14623738	GOA
involved in nervous system process	IMP IMP: Inferred from mutant phenotype	7550350	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 response to oxidative stress	IMP IMP: Inferred from mutant phenotype	16332175	GOA
involved in signal transduction	IDA IDA: Inferred from direct assay	8906617	GOA

Cellular Component GO Annotation	Evidence	Verweise	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

CHRNA4 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
500
627 a.a.

Protein Preferred Names	Protein Names
neuronal acetylcholine receptor subunit alpha-4	cholinergic receptor, nicotinic alpha 4

CHRNA4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	CHRNA4	P43681	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Pooling	32814053
Intra	CHRNA4	P43681	ADAMTSL4	Homo sapiens	Q6UY14-3	Validated Y2H	32814053
Intra	CHRNA4	P43681	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Array	32814053
Intra	CHRNA4	P43681	SORL1	Homo sapiens	Q92673	Y2H Pooling	32814053
Intra	CHRNA4	P43681	SORL1	Homo sapiens	Q92673	Validated Y2H	32814053
Intra	CHRNA4	P43681	SORL1	Homo sapiens	Q92673	Y2H Array	32814053
Intra	CHRNA4	P43681	LRP1B	Homo sapiens	Q9NZR2	Validated Y2H	32814053
Intra	CHRNA4	P43681	LRP1B	Homo sapiens	Q9NZR2	Y2H Pooling	32814053
Intra	CHRNA4	P43681	LRP1B	Homo sapiens	Q9NZR2	Y2H Array	32814053
Intra	CHRNA4	P43681	CRELD2	Homo sapiens	Q6UXH1-1	Pull Down	16238698
Intra	CHRNA4	P43681	CRELD2	Homo sapiens	Q6UXH1-1	LexA B52 Complement	16238698
Intra	CHRNA4	P43681	CRELD2	Homo sapiens	Q6UXH1-3	LexA B52 Complement	16238698
Intra	CHRNA4	P43681	CRELD2	Homo sapiens	Q6UXH1-3	Pull Down	16238698
Intra	CHRNA4	P43681	CBX1	Homo sapiens	P83916	Y2H Pooling	32814053
Intra	CHRNA4	P43681	CBX1	Homo sapiens	P83916	Validated Y2H	32814053
Intra	CHRNA4	P43681	CBX1	Homo sapiens	P83916	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

CHRNA4 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82871	Nicotinic Acetylcholine Receptor alpha 4 Antibody (YA2616)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Epilepsy, Nocturnal Frontal Lobe, 1	ENFL1 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 1 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Nocturnal Frontal Lobe Epilepsy 1 Adnfle Epilepsy, Frontal Lobe, Nocturnal, Type 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
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
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	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 Neonatal Epilepsy	Familial Neonatal Seizures Bfns Benign Familial Neonatal Convulsions Benign Familial Neonatal Seizures Epilepsy Benign Neonatal Familial Familial Benign Neonatal Convulsions Benign Neonatal Familial Convulsions Familial Benign Neonatal Epilepsy Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion
Focal Epilepsy	Partial Epilepsy Epilepsies, Partial Localisation-Related Epilepsy
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
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
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]
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Reflex Epilepsy	Epilepsy, Reflex Epilepsy, Sensory-Induced Epilepsy Reflex
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Epilepsy, Nocturnal Frontal Lobe, 2	Epilepsy, Nocturnal Frontal Lobe, Type 2 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 ENFL2 Nocturnal Frontal Lobe Epilepsy 2
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
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
Exfoliation Syndrome	Pseudoexfoliation Glaucoma Pseudoexfoliation Syndrome Exfoliation Syndrome, Susceptibility To XFS Exfoliation Glaucoma Xfg Pseudoexfoliation Of The Lens Pexg Pexs Exfoliative Syndrome Glaucoma Capsulare Pex Pseudo-Exfoliation Syndrome
Developmental And Epileptic Encephalopathy 7	Epileptic Encephalopathy, Early Infantile, 7 DEE7 Eiee7 Kcnq2-Related Epileptic Encephalopathy Kcnq2-Related Neonatal Epileptic Encephalopathy Developmental And Epileptic Encephalopathy, 7 Early Infantile Epileptic Encephalopathy 7 Kcnq2-Nee Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile, Type 7 Early Infantile Epileptic Encephalopathy With Suppression Bursts
Arthrogryposis, Distal, Type 2a	Freeman-Sheldon Syndrome Craniocarpotarsal Dystrophy Craniocarpotarsal Dysplasia DA2A Whistling Face-Windmill Vane Hand Syndrome Fss Distal Arthrogryposis Type 2a Whistling Face Syndrome Freeman-Burian Syndrome Arthrogryposis Distal Type 2a Distal Arthrogryposis, Type 2a Fbs Arthrogryposis, Distal, 2a
Early Onset Absence 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
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	HLTS Hypotrichosis Lymphedema Telangiectasia Syndrome Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Juvenile Absence Epilepsy	Epilepsy Juvenile Absence Jae Childhood Absence Epilepsy Absence Epilepsy
Adolescence-Adult Electroclinical Syndrome
Developmental And Epileptic Encephalopathy 14	Malignant Migrating Partial Seizures Of Infancy Eiee14 Epilepsy Of Infancy With Migrating Focal Seizures Mmpsi DEE14 Epileptic Encephalopathy, Early Infantile, 14 Early Infantile Epileptic Encephalopathy 14 Malignant Migrating Partial Epilepsy Of Infancy Migrating Partial Epilepsy Of Infancy Migrating Partial Seizures Of Infancy Mmpei Mpei Mpsi Malignant Migrating Focal Seizures Of Infancy Migrating Partial Seizures In Infancy Developmental And Epileptic Encephalopathy, 14 Encephalopathy, Epileptic, Early Infantile, Type 14
Unverricht-Lundborg Syndrome	Unverricht-Lundborg Disease Epm1 Myoclonic Epilepsy Of Unverricht And Lundborg Myoclonus Progressive Epilepsy Of Unverricht And Lundborg Unverricht - Lundborg Disease Unverricht'S Disease Epilepsy, Progressive Myoclonic Type 1 Epilepsy, Progressive Myoclonus 1 Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy Baltic Myoclonic Epilepsy Baltic Myoclonus Baltic Myoclonus Epilepsy Lundborg-Unverricht Syndrome Mediterranean Myoclonic Epilepsy Pme Progressive Myoclonic Epilepsy Progressive Myoclonus Epilepsy 1 Uld Myoclonic Epilepsies, Progressive
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
Substance Dependence
Episodic Kinesigenic Dyskinesia 1	Paroxysmal Kinesigenic Choreoathetosis Paroxysmal Kinesigenic Dyskinesia Dystonia 10 Familial Paroxysmal Kinesigenic Dyskinesia Episodic Kinesigenic Dyskinesia EKD1 Pkc Pkd Dyt10 Familial Pkd Paroxysmal Kinesigenic Choreathetosis Familial Paroxysmal Dystonia Dystonia, Familial Paroxysmal Dyt-Prrt2 Dystonia, Type 10
Familial Febrile Seizures	Familial Febrile Convulsions Feb Febrile Seizures, Familial
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
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Childhood Electroclinical Syndrome
Neonatal Period Electroclinical Syndrome
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
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
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

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS02669	CHRNA4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CHRNA4	RGD	RGD:2346
Mus musculus	CHRNA4	MGD	MGI:87888
Bos taurus	CHRNA4	VGNC	VGNC:27326
Canis familiaris	CHRNA4	VGNC	VGNC:39239
Felis catus	CHRNA4	VGNC	VGNC:60881
Others	CHRNA4	NCBI