1. Gene
  2. CHRNA4 - cholinergic receptor nicotinic alpha 4 subunit Gene

CHRNA4 - cholinergic receptor nicotinic alpha 4 subunit Gene

中文名称:胆碱能受体烟碱 alpha 4 亚单位

种属: Homo sapiens

同用名: EBN; BFNC; EBN1; NACHR; NACRA4; NACHRA4

基因 ID: 1137 | 基因类型: protein coding

关于 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.

功能概要

该基因编码烟碱型乙酰胆碱受体,属于配体门控离子通道超家族,在突触的快速信号传输中发挥作用。这些五聚体受体可以结合乙酰胆碱,从而引起构象的广泛变化,从而导致跨质膜的离子传导通道打开。这种蛋白质是一种完整的膜受体亚基,可以与 nAChR beta-2 或 nAChR beta-4 相互作用形成功能性受体。该基因的突变会导致 1 型夜间额叶癫痫。该基因的多态性可防止尼古丁成瘾,已有报道。可变剪接导致多个转录本变体。[RefSeq 提供,2012 年 2 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables acetylcholine receptor activity IDA
IDA: 通过直接分析推断
8906617 GOA
enables acetylcholine-gated monoatomic cation-selective channel activity IDA
IDA: 通过直接分析推断
8906617 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16238698 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA repair IMP
IMP: 通过突变表型推断
16332175 GOA
involved in behavioral response to nicotine IMP
IMP: 通过突变表型推断
17955458 GOA
involved in cognition IMP
IMP: 通过突变表型推断
14623738 GOA
involved in nervous system process IMP
IMP: 通过突变表型推断
7550350 GOA
involved in response to hypoxia IDA
IDA: 通过直接分析推断
12189247 GOA
involved in response to nicotine IDA
IDA: 通过直接分析推断
12189247 GOA
involved in response to oxidative stress IMP
IMP: 通过突变表型推断
16332175 GOA
involved in signal transduction IDA
IDA: 通过直接分析推断
8906617 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of acetylcholine-gated channel complex IDA
IDA: 通过直接分析推断
8906617 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CHRNA4 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (37 - 242)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (250 - 618)

  • 0
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  • 200
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  • 500
  • 627 a.a.
蛋白主名 其他名称

neuronal acetylcholine receptor subunit alpha-4

cholinergic receptor, nicotinic alpha 4

CHRNA4 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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