1. Gene
  2. CHRNA7 - cholinergic receptor nicotinic alpha 7 subunit Gene

CHRNA7 - cholinergic receptor nicotinic alpha 7 subunit Gene

中文名称:胆碱能受体烟碱α7 亚单位

种属: Homo sapiens

同用名: NACHRA7; CHRNA7-2

基因 ID: 1139 | 基因类型: protein coding

关于 CHRNA7

Cytogenetic location: 15q13.3 Genomic coordinates (GRCh38): 15:32,030,483-32,173,018 (from NCBI)

This gene has 37 transcripts (splice variants), 1 gene allele, 243 orthologues, 45 paralogues and is associated with 2 phenotypes. Broad expression in adrenal (RPKM 4.1), small intestine (RPKM 4.1) and 19 other tissues.

功能概要

烟碱型乙酰胆碱受体 (nAChRs) 是配体门控离子通道超家族的成员,可介导突触处的快速信号传输。 nAChRs 被认为是由同源亚基组成的异源五聚体。每个亚基的拟议结构是一个保守的 N 末端细胞外结构域,然后是三个保守的跨膜结构域、一个可变的细胞质环、第四个保守的跨膜结构域和一个短的 C 末端细胞外区域。由该基因编码的蛋白质形成同源寡聚通道,显示出对钙离子的显着渗透性,并且是被α-金环蛇毒素阻断并对α-金环蛇毒素高度敏感的大脑烟碱受体的主要成分。一旦该受体结合乙酰胆碱,它就会发生广泛的构象变化,影响所有亚基并导致跨质膜的离子传导通道打开。该基因位于被确定为青少年肌阵挛性癫痫的主要易感位点的区域和涉及精神分裂症遗传传递的染色体位置。该区域最近的进化部分复制事件导致包含来自该基因和新 FAM7A 基因的序列的杂种。可变剪接导致多个转录本变体。[RefSeq 提供,2012 年 2 月]

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit 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. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

CHRNA7 基因产物(2)

mRNA Protein Name
NM_000746.6 NP_000737.1 neuronal acetylcholine receptor subunit alpha-7 isoform 1 precursor
NM_001190455.3 NP_001177384.1 neuronal acetylcholine receptor subunit alpha-7 isoform 2 precursor
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 binding IDA
IDA: 通过直接分析推断
8145738 GOA
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
8145738 GOA
enables amyloid-beta binding IPI
IPI: 通过物理相互作用推断
10681545 GOA
enables chloride channel regulator activity IDA
IDA: 通过直接分析推断
8145738 GOA
enables monoatomic ion channel activity IDA
IDA: 通过直接分析推断
17898229 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10681545 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
8145738 GOA
enables toxic substance binding IDA
IDA: 通过直接分析推断
12508119 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium ion transport IDA
IDA: 通过直接分析推断
8145738 GOA
involved in calcium ion transport IMP
IMP: 通过突变表型推断
10771023 GOA
involved in cognition IMP
IMP: 通过突变表型推断
16754836 GOA
involved in excitatory postsynaptic potential IDA
IDA: 通过直接分析推断
21718690 GOA
involved in intracellular calcium ion homeostasis IMP
IMP: 通过突变表型推断
16280133 GOA
involved in monoatomic ion transmembrane transport IDA
IDA: 通过直接分析推断
21718690 GOA
involved in negative regulation of amyloid-beta formation IGI
IGI: 通过遗传相互作用推断
20708605 GOA
acts upstream of or within negative regulation of tumor necrosis factor production IDA
IDA: 通过直接分析推断
12508119 GOA
involved in negative regulation of tumor necrosis factor production IMP
IMP: 通过突变表型推断
12508119 GOA
involved in positive regulation of MAPK cascade IDA
IDA: 通过直接分析推断
10771023 GOA
involved in positive regulation of angiogenesis IMP
IMP: 通过突变表型推断
12189247 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
16280133 GOA
involved in regulation of amyloid precursor protein catabolic process IGI
IGI: 通过遗传相互作用推断
20708605 GOA
involved in response to acetylcholine IDA
IDA: 通过直接分析推断
17898229 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
8145738 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
located in plasma membrane IDA
IDA: 通过直接分析推断
12508119 GOA
is active in postsynaptic membrane IDA
IDA: 通过直接分析推断
21718690 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

CHRNA7 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (27 - 230)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (237 - 486)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 502 a.a.
蛋白主名 其他名称

neuronal acetylcholine receptor subunit alpha-7

a7 nicotinic acetylcholine receptor

CHRNA7 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 CHRNA7 P36544 CHRFAM7A Homo sapiens Q494W8
Anti Bait CoIP
28750690
Intra CHRNA7 P36544 APP Homo sapiens P05067
Imaging
10681545
Intra CHRNA7 P36544 P05067-PRO_0000000092 Homo sapiens P05067-PRO_0000000092
Solid Phase Assay
28750690
Intra CHRNA7 P36544 P05067-PRO_0000000092 Homo sapiens P05067-PRO_0000000092
Anti Bait CoIP
10681545
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, Idiopathic Generalized 7

Epilepsy, Idiopathic Generalized, Susceptibility To, 7

EIG7

Idiopathic Generalized Epilepsy 7

Epilepsy, Juvenile Myoclonic

Chromosome 15q13.3 Deletion Syndrome

Chromosome 15q13.3 Microdeletion Syndrome

15q13.3 Microdeletion Syndrome

15q13.3 Microdeletion

Microdeletion 15q13.3 Syndrome

Del(15)(Q13.3)

Monosomy 15q13.3

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Pyromania

Firesetting Behavior

Pathological Firesetting

Pathological Fire-Setting

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

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

Schizophrenia 19

SCZD19

Schizophrenia 19 With Or Without An Affective Disorder

Schizophrenia 19, Susceptibility To

{Schizophrenia 19, Susceptibility To}

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

Tricuspid Valve Stenosis

Tricuspid Stenosis

Tricuspid Stricture

Tricuspid Valve Stricture

Tricuspid Insufficiency With Obstruction

Tricuspid Insufficiency With Stenosis

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

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Chromosome 1q21.1 Duplication Syndrome

1q21.1 Microduplication Syndrome

Trisomy 1q21.1

1q21.1 Duplication Syndrome

1q21.1 Microduplication

1q21.1 Duplication

Dup(1)(Q21.1)

Non-Syndromic X-Linked Intellectual Disability 91

Mrx91

Spinocerebellar Ataxia, Autosomal Recessive 15

Autosomal Recessive Spinocerebellar Ataxia 15

SCAR15

Salih Ataxia

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 15

Spinocerebellar Ataxia, Autosomal Recessive, 15

Ataxia, Spinocerebellar, Autosomal Recessive, Type 15

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Retinitis Pigmentosa 38

RP38

Rod-Cone Dystrophy, Childhood-Onset

Retinitis Pigmentosa, Type 38

Obsessive-Compulsive Disorder

OCD

Obsessive-Compulsive Disorder, Susceptibility To

Anancastic Neurosis

Obsessive Compulsive Disorder

Anankastic Neurosis

Obsessive-Compulsive Neurosis

Obsessive Compulsive Behavior

Juvenile Absence Epilepsy

Epilepsy Juvenile Absence

Jae

Childhood Absence Epilepsy

Absence Epilepsy

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

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

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Adolescence-Adult Electroclinical 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]

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

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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

Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome

Chromosomal Deletion Syndrome
Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

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

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

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
Mus musculus CHRNA7 MGD MGI:99779
Rattus norvegicus CHRNA7 RGD RGD:2348