CHRNA3 - cholinergic receptor nicotinic alpha 3 subunit Gene

中文名称：胆碱能受体烟碱α3 亚单位

种属: Homo sapiens

同用名: LNCR2; PAOD2; BAIPRCK; NACHRA3

基因 ID: 1136 | 基因类型: protein coding

关于 CHRNA3

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:78,593,052-78,620,996 (from NCBI)

This gene has 8 transcripts (splice variants), 207 orthologues, 45 paralogues and is associated with 3 phenotypes. Biased expression in adrenal (RPKM 16.5), appendix (RPKM 2.4) and 2 other tissues.

功能概要

该基因座编码烟碱型乙酰胆碱受体蛋白家族的成员。该蛋白质家族的成员形成由 α 和 β 亚基组成的五聚体复合物。该基因座编码一个 alpha 型亚基，因为它包含特征性的相邻半胱氨酸残基。编码的蛋白质是配体门控离子通道，可能在神经传递中发挥作用。该基因的多态性与开始吸烟的风险增加和患肺癌的易感性增加有关。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2009 年 11 月]

This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung Cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

CHRNA3 基因产物(2)

mRNA	Protein	Name
NM_000743.5	NP_000734.2	neuronal acetylcholine receptor subunit alpha-3 isoform 1 precursor
NM_001166694.2	NP_001160166.1	neuronal acetylcholine receptor subunit alpha-3 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 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	26265139	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	18227835	GOA
involved in nervous system development	IMP IMP: 通过突变表型推断	11450844	GOA
involved in signal transduction	IDA IDA: 通过直接分析推断	8906617	GOA
involved in synaptic transmission involved in micturition	IMP IMP: 通过突变表型推断	11450844	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

CHRNA3 蛋白结构

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
505 a.a.

蛋白主名

其他名称

neuronal acetylcholine receptor subunit alpha-3

cholinergic receptor, nicotinic alpha 3

重组 CHRNA3 蛋白

目录号	产品名	蛋白编号	纯度
HY-P72144	CHRNA3 Protein, Human (His-SUMO)	P32297 (S32-L240)	≥95%

关联疾病

疾病名称

别名

Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut

Urinary Bladder, Atony Of	BAIPRCK
Atony Of Urinary Bladder

Smoking As A Quantitative Trait Locus 3

Lung Cancer Susceptibility 2	Nicotine Dependence
SQTL3	Nicotine Dependence, Susceptibility To

High Grade Glioma

Malignant Glioma	Glial Cell Tumor
Glioma, Malignant	Malignant Neuroglial Tumor
Neuroglial Tumor	Glioma
Malignant Gliomas

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Berdon Syndrome
MMIHS	Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Megacystis, Microcolon, Hypoperistalsis Syndrome	Visceral Myopathy
Mmih Syndrome	Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome
MMIHS1	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih
Mmhs

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Dyskeratosis Congenita, Autosomal Dominant 2

Autosomal Recessive Dyskeratosis Congenita 4	DKCA2
Autosomal Dominant Dyskeratosis Congenita 2	DKCB4
Dyskeratosis Congenita, Autosomal Dominant, 2	Dyskeratosis Congenita Scoggins Type
Dyskeratosis Congenita, Autosomal Recessive, 4	Dyskeratosis Congenita, Autosomal Recessive 4
Dyskeratosis Congenita, Autosomal Dominant, Type 2

Alpha-1-Antitrypsin Deficiency

Alpha 1-Antitrypsin Deficiency	Alpha-1 Antitrypsin Deficiency
Aat Deficiency	Aatd
A1ATD	Emphysema Due To Aat Deficiency
A1at Deficiency	Emphysema-Cirrhosis, Due To Aat Deficiency
Hemorrhagic Diathesis Due To Antithrombin Pittsburgh	Alpha-1 Antiprotease Deficiency
Alpha 1 Antitrypsin Deficiency	Aat
Alpha-1 Protease Inhibitor Deficiency	Alpha-1 Related Emphysema
Genetic Emphysema	Hereditary Pulmonary Emphysema
Inherited Emphysema	Alpha-1-Proteinase Inhibitor Deficiency
Alpha1-Antitrypsin Deficiency	Alpha-1-Antitrypsin Deficiency, Autosomal Recessive
Emphysema, Hereditary Pulmonary	Aatd - [Alpha-1-Antitrypsin] Deficiency

Cakut

Renal Or Urinary Tract Malformation	Congenital Anomalies Of Kidney And Urinary Tract
Congenital Anomaly Of Kidney And Urinary Tract	Congenital Anomalies Of The Kidney And Urinary Tract
Kidney And Urinary Tract, Anomalies, Congenital	Renal Hypodysplasia, Nonsyndromic, 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

Substance Dependence

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Cocaine Dependence

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

Hydronephrosis

Stricture Of Ureteropelvic Junction With Hydronephrosis

Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02668	CHRNA3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	CHRNA3	RGD	RGD:2345
Canis familiaris	CHRNA3	VGNC	VGNC:39238
Felis catus	CHRNA3	VGNC	VGNC:60880
Mus musculus	CHRNA3	MGD	MGI:87887
Bos taurus	CHRNA3	VGNC	VGNC:27325
Macaca mulatta	CHRNA3	VGNC	VGNC:71047
Others	CHRNA3	NCBI

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