【佳學(xué)基因檢測(cè)】分子藥理學(xué)CHRM3的基本知識(shí)要點(diǎn)

基因檢測(cè)的序列名稱：

CHRM3

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

1131

人體基因序列數(shù)據(jù)庫中國(guó)際交流名稱全稱

cholinergic receptor muscarinic 3

中國(guó)數(shù)據(jù)庫中基因全稱：

膽堿能受體毒蕈堿3

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

基因突變所影響的基因信息

毒蕈堿膽堿能受體屬于更大的G蛋白偶聯(lián)受體家族。這些受體的功能多樣性由乙酰膽堿的結(jié)合決定，包括細(xì)胞反應(yīng)，例如腺苷酸環(huán)化酶抑制，磷酸肌醇變性和鉀通道介導(dǎo)。毒蕈堿受體影響乙酰膽堿在中樞神經(jīng)系統(tǒng)和周圍神經(jīng)系統(tǒng)中的多種作用。毒蕈堿膽堿能受體3控制平滑肌收縮，其刺激引起腺體組織的分泌。替代啟動(dòng)子的使用和替代剪接導(dǎo)致具有不同組織特異性的多個(gè)轉(zhuǎn)錄物變體。[由RefSeq提供，2016年12月]

國(guó)際國(guó)內(nèi)該堿基基因序列的其他英語文字母簡(jiǎn)稱：

EGBRS, HM3, PBS

基因解碼對(duì)該基因序列在細(xì)胞核中的染色體所給予的編號(hào)：

該基因序列位于人類第1號(hào)染色體上。

基因解碼對(duì)基因序列的正確定位

該基因序列在GRCh37版本中的起始位置坐標(biāo)為：239549876；結(jié)束位置坐標(biāo)為：240078750。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：239386565；結(jié)束位置坐標(biāo)為：239915450。正確的基因信息定位是基因檢測(cè)和對(duì)檢測(cè)結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對(duì)該基因的功能分類：國(guó)際版

G-protein coupled receptors/GPCRs excl olfactory receptors

基因解碼對(duì)該基因的功能分類：中文版

G 蛋白偶聯(lián)受體/GPCR 不包括嗅覺受體

結(jié)構(gòu)與功能基因解碼所揭示的該基因在細(xì)胞內(nèi)發(fā)揮作用的場(chǎng)所（國(guó)際版）：

Plasma membrane

結(jié)構(gòu)與功能基因解碼所揭示的該基因發(fā)揮作用的細(xì)胞內(nèi)位置（中文版）：

質(zhì)膜

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國(guó)際版）：

Absent abdominal musculature; Prune Belly Syndrome; Urethral obstruction sequence; Congenital posterior urethral valves; Urinary Bladder Diseases; Aplasia/Hypoplasia of the lungs; Dilatation of ureter; Uroureter; Ascites; Congenital heart disease; Recurrent urinary tract infection; Abnormality of the ribs; Maternal oligohydramnios; Oligohydramnios; Decreased fertility; Vesico-Ureteral Reflux; Skin Abnormalities; Xerostomia; Anus, Imperforate; Hip Dislocation, Congenital; Multicystic Dysplastic Kidney; Congenital pectus carinatum; Congenital Heart Defects; Hydronephrosis; Kidney Failure; Renal failure in adulthood; Small testicle; Patent ductus arteriosus; Renal Insufficiency; Dermatologic disorders; Pectus excavatum; Congenital clubfoot; Dyschezia; Liver Cirrhosis; Constipation; Recurrent respiratory infections; Mood Disorders; Chemical and Drug Induced Liver Injury; Unipolar Depression; Cryptorchidism; Major Depressive Disorder; Bipolar Disorder; Autosomal recessive predisposition

如果該基因突變后，風(fēng)險(xiǎn)可能增加的疾病類型（中文版）：

沒有腹部肌肉組織；梅干腹綜合癥；尿道梗阻序列；先天性后尿道瓣膜；膀胱疾??；肺發(fā)育不全/發(fā)育不全；輸尿管擴(kuò)張；輸尿管;腹水;先天性心臟病；反復(fù)性尿路感染；肋骨異常;母體羊水過少;羊水過少;生育能力下降；膀胱輸尿管反流；皮膚異常；口干;肛門無孔；髖關(guān)節(jié)脫位先天性；多囊性發(fā)育不良腎；先天性雞胸；先天性心臟缺陷；腎積水;腎功能衰竭;成年期腎功能衰竭；小睪丸；動(dòng)脈導(dǎo)管未閉；腎功能不全;皮膚??；漏斗胸;先天性馬蹄內(nèi)翻足；排便困難；肝硬化；便秘;反復(fù)呼吸道感染；情緒障礙；化學(xué)和藥物引起的肝損傷；單極抑郁癥；隱睪;嚴(yán)重抑郁癥;躁郁癥;常染色體隱性易感性

GWAS基因檢測(cè)所建立的與該基因的疾病關(guān)聯(lián)（國(guó)際版）：

Hypertension

GWAS基因檢測(cè)所解碼的該基因突變會(huì)增加風(fēng)險(xiǎn)的疾病種類（中文版）：

高血壓

以該基因做靶點(diǎn)的藥物（國(guó)際版）：

Cevimeline (Receptor activity);Tramadol (Receptor activity);Succinylcholine (Receptor activity);Ziprasidone (Receptor activity);Disopyramide (Receptor activity);Amitriptyline (Receptor activity);Ipratropium bromide (Receptor activity);Olanzapine (Receptor activity);Metixene (Receptor activity);Terfenadine (Receptor activity);Clozapine (Receptor activity);Trihexyphenidyl (Receptor activity);Oxyphencyclimine (Receptor activity);Procyclidine (Receptor activity);Loxapine (Receptor activity);Promazine (Receptor activity);Hyoscyamine (Receptor activity);Cyproheptadine (Receptor activity);Imipramine (Receptor activity);Methylscopolamine bromide (Receptor activity);Chlorpromazine (Receptor activity);Darifenacin (Receptor activity);Tridihexethyl (Receptor activity);Anisotropine Methylbromide (Receptor activity);Nortriptyline (Receptor activity);Atropine (Receptor activity);Nicardipine (Receptor activity);Paroxetine (Receptor activity);Homatropine Methylbromide (Receptor activity);Diphemanil Methylsulfate (Receptor activity);Scopolamine (Receptor activity);Benzquinamide (Receptor activity);Propiomazine (Receptor activity);Cryptenamine (Receptor activity);Tropicamide (Receptor activity);Brompheniramine (Receptor activity);Maprotiline (Receptor activity);Glycopyrronium (Receptor activity);Tolterodine (Receptor activity);Oxybutynin (Receptor activity);Promethazine (Receptor activity);Pilocarpine (Receptor activity);Doxepin (Receptor activity);Desipramine (Receptor activity);Quetiapine (Receptor activity);Mivacurium (Receptor activity);Diphenidol (Receptor activity);Aripiprazole (Receptor activity);Chlorprothixene (Receptor activity);Pancuronium (Receptor activity);Pipecuronium (Receptor activity);Methotrimeprazine (Receptor activity);Tiotropium (Receptor activity);Solifenacin (Receptor activity);Isopropamide (Receptor activity);Mepenzolate (Receptor activity);Itopride (Receptor activity);ALKS 27 (Receptor activity);Fesoterodine (Receptor activity);Methacholine (Receptor activity);Aclidinium (Receptor activity);Umeclidinium (Receptor activity)

針對(duì)該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

西維美林（受體活性）;曲馬多（受體活性）;琥珀膽堿（受體活性）;齊拉西酮（受體活性）;丙吡胺（受體活性）;阿米替林（受體活性）;異丙托溴銨（受體活性）;奧氮平（受體活性）;美西烯(受體活性);特非那定(受體活性);氯氮平(受體活性);苯海索(受體活性);氧苯環(huán)利定(受體活性);丙環(huán)利定(受體活性);洛沙平(受體活性);丙嗪(受體活性);芍藥堿(受體活性)活性);賽庚啶(受體活性);丙咪嗪(受體活性);溴化甲基東莨菪堿(受體活性);氯丙嗪(受體活性);達(dá)非那新(受體活性);三己乙酯(受體活性);異丙嗪(受體活性);去甲替林(受體活性)活性);阿托品(受體活性);尼卡地平(受體活性);帕羅西汀(受體活性);后馬托品甲基溴(受體活性);Diphemanil Methylsulfate(受體活性);東莨菪堿(受體活性);苯并喹酰胺(受體活性);丙哌嗪(受體活性)活性);Cryptenamine (受體活性);Tropicamide (受體活性);溴苯那敏(受體活性);馬普替林(受體活性);格隆銨(受體活性);托特羅定(受體活性);奧昔布寧(受體活性);異丙嗪(受體活性) ;毛果蕓香堿（受體活性）;多塞平（受體活性）;地昔帕明（受體活性）;喹硫平（受體活性）;米庫氯銨（受體活性）;地苯尼多（受體活性）;阿立哌唑（受體活性）;氯丙噻噸（受體活性）;泮庫溴銨(受體活性);哌庫溴銨(受體活性);甲氧美拉嗪(受體活性);噻托溴銨(受體活性);索利那新(受體活性);異丙丙胺(受體活性);甲哌佐酯(受體活性);伊托必利(受體活性);ALKS 27 (受體活性);非索羅定(受體活性);乙酰甲膽堿(受體活性);阿地溴銨(受體活性);烏美溴銨(受體活性)