【广东会GDH基因检测】ADRB2基因检测的意义

基因检测的序列名称：

ADRB2

人体基因序列变化与疾病表征数据库中的基因代码：

154

人体基因序列数据库中国际交流名称全称

adrenoceptor beta 2

中国数据库中基因全称：肾上腺素受体2基因检测报告英文版基因简介

This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes. [provided by RefSeq, Jul 2008]

基因突变所影响的基因信息

该基因编码β-2-肾上腺素能受体，该受体是G蛋白偶联受体超家族的成员。该受体与其贼终效应物之一C类L型钙通道Ca（V）1.2直接相关。该受体通道复合物还包含一个G蛋白，一个腺苷酸环化酶，cAMP依赖性激酶和一个平衡磷酸酶PP2A。信号传导复合物的组装提供了一种机制，可确保通过这种G蛋白偶联受体实现特异性和快速的信号传导。该基因是无内含子的。该基因的不同多态形式，点突变和/或下调与夜间哮喘，肥胖症和2型糖尿病有关。[由RefSeq提供，2008年7月]

国际国内该碱基因序列的其他英语文字母简称：

ADRB2R, ADRBR, B2AR, BAR, BETA2AR

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第5号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：148206156；结束位置坐标为：148254628。该基因序列在GRCh38版本中的起始位置坐标为：148826593；结束位置坐标为：148828634。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

广东会GDH基因解码对该基因的功能分类：国际版

G-protein coupled receptors/GPCRs excl olfactory receptors;Transporters

基因解码对该基因的功能分类：中文版

G 蛋白偶联受体/GPCR，不包括嗅觉受体；转运蛋白

结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

Cytosol(Uncertain)

结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

胞质溶胶

该基因序列变化后增加的疾病风险（国际版）：

Ventricular Dysfunction, Left; Hypokalemia; Hyperlipidemia; Fibrosis; Lung diseases; nervous system disorder; Insulin Resistance; Cardiomyopathy, Dilated; Asthma; Cardiomyopathies; Tremor; Myocardial Ischemia; Obesity; Autistic Disorder; Stomach Neoplasms; Prostatic Neoplasms; Bipolar Disorder

如果该基因突变后，风险可能增加的疾病类型（中文版）：

心室功能障碍左；低钾血症；高脂血症；纤维化；肺部疾病；神经系统紊乱；胰岛素抵抗;心肌病扩张型；哮喘;心肌病;震颤;心肌缺血；肥胖;自闭症；胃肿瘤；前列腺肿瘤；躁郁症

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

正在通过基因解码技术进行收集、查证并编辑，请关注广东会GDH基因，获得及明更新的人类基因序列变化与疾病表征数据库的更新内容

GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：

正在通过基因解码技术进行收集、查证并编辑，请关注广东会GDH基因，获得及明更新的人类基因序列变化与疾病表征数据库的更新内容

以该基因做靶点的药物（国际版）：

Betaxolol (Protein homodimerization activity);Isoetarine (Protein homodimerization activity);Cabergoline (Protein homodimerization activity);Metoprolol (Protein homodimerization activity);Atenolol (Protein homodimerization activity);Norepinephrine (Protein homodimerization activity);Mirtazapine (Protein homodimerization activity);Timolol (Protein homodimerization activity);Phenylpropanolamine (Protein homodimerization activity);Dipivefrin (Protein homodimerization activity);Sotalol (Protein homodimerization activity);Carteolol (Protein homodimerization activity);Propranolol (Protein homodimerization activity);Labetalol (Protein homodimerization activity);Bisoprolol (Protein homodimerization activity);Epinephrine (Protein homodimerization activity);Orciprenaline (Protein homodimerization activity);Dobutamine (Protein homodimerization activity);Pseudoephedrine (Protein homodimerization activity);Alprenolol (Protein homodimerization activity);Ritodrine (Protein homodimerization activity);Terbutaline (Protein homodimerization activity);Bitolterol (Protein homodimerization activity);Phenoxybenzamine (Protein homodimerization activity);Salmeterol (Protein homodimerization activity);Pindolol (Protein homodimerization activity);Formoterol (Protein homodimerization activity);Salbutamol (Protein homodimerization activity);Isoprenaline (Protein homodimerization activity);Arbutamine (Protein homodimerization activity);Carvedilol (Protein homodimerization activity);Desipramine (Protein homodimerization activity);Acebutolol (Protein homodimerization activity);Nadolol (Protein homodimerization activity);Levobunolol (Protein homodimerization activity);Metipranolol (Protein homodimerization activity);Arformoterol (Protein homodimerization activity);Fenoterol (Protein homodimerization activity);Pirbuterol (Protein homodimerization activity);Bevantolol (Protein homodimerization activity);Penbutolol (Protein homodimerization activity);Ephedra (Protein homodimerization activity);Procaterol (Protein homodimerization activity);Clenbuterol (Protein homodimerization activity);Bambuterol (Protein homodimerization activity);Oxprenolol (Protein homodimerization activity);Celiprolol (Protein homodimerization activity);Nebivolol (Protein homodimerization activity);Indacaterol (Protein homodimerization activity);NCX 950 (Protein homodimerization activity);Asenapine (Protein homodimerization activity);Droxidopa (Protein homodimerization activity);(2S)-1-(9H-Carbazol-4-yloxy)-3-(isopropylamino)propan-2-ol (Protein homodimerization activity);Bopindolol (Protein homodimerization activity);Bupranolol (Protein homodimerization activity);Olodaterol (Protein homodimerization activity);Vilanterol (Protein homodimerization activity)

针对该基因所产生的突变，可能有正确效果的药物（中文版）：

倍他洛尔（蛋白质同二聚化活性）；异丙酮酸（蛋白质同二聚化活性）；卡麦角林（蛋白质同二聚化活性）；美托洛尔（蛋白质同二聚化活性）；阿替洛尔（蛋白质同二聚化活性）；去甲肾上腺素（蛋白质同二聚化活性）；米氮平（蛋白质同二聚化活性）；噻吗洛尔(蛋白质同二聚化活性);苯丙醇胺(蛋白质同二聚化活性);地匹夫林(蛋白质同二聚化活性);索他洛尔(蛋白质同二聚化活性);卡替洛尔(蛋白质同二聚化活性);普萘洛尔(蛋白质同二聚化活性);拉贝洛尔(蛋白质同二聚化活性);比索洛尔( Protein homodimerization activity);肾上腺素(Protein homodimerization activity);Orciprenaline(Protein homodimerization activity);多巴酚丁胺(Dobutamine)(Protein homodimerization activity);Pseudoephedrine(Protein homodimerization activity);Alprenolol(Protein homodimerization activity);利托君(Protein homodimerization activity);特布他林(Protein homodimerization activity)同二聚活性);比托特罗(蛋白质同二聚活性);苯氧苄明(蛋白质同二聚活性);沙美特罗(蛋白质同二聚活性);吲哚洛尔(蛋白质同二聚活性);福莫特罗(蛋白质同二聚活性);沙丁胺醇(蛋白质同二聚活性);异丙肾上腺素(蛋白质同二聚活性)活性);熊果胺(蛋白质同二聚活性);卡维地洛(蛋白质同二聚活性);地昔帕明(蛋白质同二聚活性);醋丁洛尔(蛋白质同二聚活性);纳多洛尔(蛋白质同二聚活性);左布洛尔(蛋白质同二聚活性);美替洛尔(蛋白质同二聚活性) );阿福特罗(蛋白质同二聚活性);非诺特罗(蛋白质同二聚活性);吡布特罗(蛋白质同二聚活性);贝伐洛尔(蛋白质同二聚活性);喷布洛尔(蛋白质同二聚活性);麻黄(蛋白质同二聚活性);丙卡特罗(蛋白质同二聚活性) ;瘦肉精（蛋白质同二聚化活性）；班布特罗（蛋白质同二聚化活性）；氧烯洛尔（蛋白质同二聚化活性）；赛力洛尔（蛋白质同二聚化活性）；奈必洛尔（蛋白质同二聚化活性）；茚达特罗（蛋白质同二聚化活性）；NCX 950（蛋白质同二聚化活性） ;Asenapine（蛋白质同二聚化活性）；屈昔多巴（蛋白质同二聚化活性）；(2S)-1-(9H-Carbazol-4-yloxy)-3-(isopropylamino)propan-2-ol（蛋白质同二聚化活性）；Bopindolol（蛋白质同二聚化活性）同二聚化活性);丁萘洛尔(蛋白质同二聚化活性);奥达特罗(蛋白质同二聚化活性);维兰特罗(蛋白质同二聚化活性)

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