2. Gene
  3. CHRNA2 - cholinergic receptor nicotinic alpha 2 subunit Gene

CHRNA2 - cholinergic receptor nicotinic alpha 2 subunit Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：胆碱能受体烟碱α2 亚单位

种属: Homo sapiens

基因 ID: 1135 | 基因类型: protein coding

关于 CHRNA2

Cytogenetic location: 8p21.2 Genomic coordinates (GRCh38): 8:27,459,756-27,479,261 (from NCBI)

This gene has 13 transcripts (splice variants), 250 orthologues, 45 paralogues and is associated with 3 phenotypes. Restricted expression toward prostate (RPKM 15.4).

功能概要

烟碱型乙酰胆碱受体 (nAChRs) 是由 alpha 和 beta 亚基的五聚体排列形成的配体门控离子通道，可产生不同的肌肉和神经元受体。神经元受体遍布周围和中枢神经系统，它们参与快速突触传递。该基因编码在大脑中广泛表达的α亚基。拟议的 nAChR 亚基结构是一个保守的 N 末端细胞外结构域，后跟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。该基因的突变导致常染色体显性遗传性夜间额叶癫痫 4 型。该基因的单核苷酸多态性 (SNP) 与尼古丁依赖有关。[RefSeq 提供，2009 年 11 月]

Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits 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. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]

CHRNA2 基因产物(6)

mRNA Protein Name
NM_000742.4 NP_000733.2 neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor
NM_001282455.2 NP_001269384.1 neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor
NM_001347705.2 NP_001334634.1 neuronal acetylcholine receptor subunit alpha-2 isoform 3
NM_001347706.2 NP_001334635.1 neuronal acetylcholine receptor subunit alpha-2 isoform 3
NM_001347707.2 NP_001334636.1 neuronal acetylcholine receptor subunit alpha-2 isoform 4
NM_001347708.2 NP_001334637.1 neuronal acetylcholine receptor subunit alpha-2 isoform 4
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
生物过程 GO 注释 逻辑证据 参考文献 来源
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

CHRNA2 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (59 - 264)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (272 - 520)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 529 a.a.
蛋白主名 其他名称

neuronal acetylcholine receptor subunit alpha-2

acetylcholine receptor, nicotinic, alpha 2 (neuronal)

CHRNA2 抗体

目录号 产品名 应用 反应物种
HY-P84603 CHRNA2 Antibody (YA4300) WB, ELISA Human, Rat

关联疾病

疾病名称 别名
Epilepsy, Nocturnal Frontal Lobe, 4

ENFL4

Epilepsy, Nocturnal Frontal Lobe, Type 4

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4

Seizures, Benign Familial Infantile, 6

Epilepsy, Familial, With Nocturnal Wandering And Ictal Fear

Nocturnal Frontal Lobe Epilepsy 4

Familial Epilepsy With Nocturnal Wandering And Ictal Fear

BFIS6

Bfic6

Convulsions, Benign Familial Infantile, 6

Epilepsy, Frontal Lobe, Nocturnal, Type 4
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
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
Focal Epilepsy

Partial Epilepsy

Epilepsies, Partial

Localisation-Related Epilepsy
Hallucinogen Dependence

Hallucinogen Addiction
Cannabis Dependence

Marijuana Abuse

Cannabinoid Addiction

Cannabinoid Dependence

Cannabis Addiction
Barre-Lieou Syndrome

Cervicocranial Syndrome

Posterior Cervical Sympathetic Syndrome
Reflex Epilepsy

Epilepsy, Reflex

Epilepsy, Sensory-Induced

Epilepsy Reflex
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
Early Onset Absence Epilepsy
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, 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]
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
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
Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial
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
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02667 CHRNA2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CHRNA2 MGD MGI:87886
Canis familiaris CHRNA2 VGNC VGNC:39237
Macaca mulatta CHRNA2 VGNC VGNC:71046
Rattus norvegicus CHRNA2 RGD RGD:621533
Felis catus CHRNA2 VGNC VGNC:60879
Bos taurus CHRNA2 VGNC VGNC:27324
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