1. Gene
  2. CHRNB2 - cholinergic receptor nicotinic beta 2 subunit Gene

CHRNB2 - cholinergic receptor nicotinic beta 2 subunit Gene

中文名称:胆碱能受体烟碱 β2 亚单位

种属: Homo sapiens

同用名: EFNL3; nAChRB2

基因 ID: 1141 | 基因类型: protein coding

关于 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.

功能概要

神经元乙酰胆碱受体是由同源的α和β亚基组成的同源或异源五聚体复合物。它们属于配体门控离子通道超家族,允许钠和钾响应配体 (如乙酰胆碱和尼古丁) 流过质膜。该基因编码几个 β 亚基之一。该基因的突变与常染色体显性遗传性夜间额叶癫痫有关。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_000748.3 NP_000739.1 neuronal acetylcholine receptor subunit beta-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 IMP
IMP: 通过突变表型推断
15964197 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
8906617 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8663494 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in behavioral response to nicotine IMP
IMP: 通过突变表型推断
17559419 GOA
involved in cognition IMP
IMP: 通过突变表型推断
17559419 GOA
involved in learning IMP
IMP: 通过突变表型推断
15964197 GOA
involved in memory IMP
IMP: 通过突变表型推断
15964197 GOA
involved in nervous system process IMP
IMP: 通过突变表型推断
17900292 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 signal transduction IDA
IDA: 通过直接分析推断
8906617 GOA
involved in visual learning IMP
IMP: 通过突变表型推断
15964197 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

CHRNB2 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (29 - 234)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (241 - 478)

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

neuronal acetylcholine receptor subunit beta-2

acetylcholine receptor, nicotinic, beta 2 (neuronal)

CHRNB2 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
种属内
CHRNB2 P17787 CHRNA5 Homo sapiens P30532 8663494
种属内
CHRNB2 P17787 CHRNA5 Homo sapiens P30532 33961781
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, 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

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 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