【佳學(xué)基因檢測(cè)】看基因測(cè)試報(bào)告前，需要諳熟于心的ERBB2知識(shí)

基因檢測(cè)的序列名稱：

ERBB2

人體基因序列變化與疾病表征數(shù)據(jù)庫(kù)中的基因代碼：

2064

人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱全稱

erb-b2 receptor tyrosine kinase 2

中國(guó)數(shù)據(jù)庫(kù)中基因全稱：

erb-b2受體酪氨酸激酶2

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]

基因突變所影響的基因信息

此基因編碼受體酪氨酸激酶的表皮生長(zhǎng)因子（EGF）受體家族的成員。該蛋白質(zhì)沒(méi)有自身的配體結(jié)合域，因此不能結(jié)合生長(zhǎng)因子。但是，它確實(shí)與其他配體結(jié)合的EGF受體家族成員緊密結(jié)合，形成異二聚體，穩(wěn)定配體結(jié)合并增強(qiáng)激酶介導(dǎo)的下游信號(hào)傳導(dǎo)途徑的激活，例如涉及促分裂原活化蛋白激酶和磷脂酰肌醇3激酶的那些。已經(jīng)報(bào)道了同工型a的氨基酸位置654和655（同工型b的位置624和625）上的等位基因變異，其中賊常見(jiàn)的等位基因Ile654 / Ile655在此顯示。已經(jīng)在包括乳腺癌和卵巢腫瘤在內(nèi)的許多癌癥中報(bào)道了該基因的擴(kuò)增和/??

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

CD340, HER-2, HER-2/neu, HER2, MLN 19, NEU, NGL, TKR1

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17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：37844167；結(jié)束位置坐標(biāo)為：37884915。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：39688084；結(jié)束位置坐標(biāo)為：39728662。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

CD markers;Enzymes/{ENZYME proteins/Transferases,Kinases/Tyr protein kinases}

基因解碼對(duì)該基因的功能分類：中文版

CD 標(biāo)記；酶/{酶蛋白/轉(zhuǎn)移酶，激酶/Tyr 蛋白激酶}

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）：

Cytosol;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）：

胞質(zhì)溶膠；質(zhì)膜

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

Glioblastoma Multiforme; Gastrointestinal Neoplasms; Carcinogenesis; Stomach Carcinoma; gallbladder neoplasm; Bronchioloalveolar Adenocarcinoma; Lymphatic Metastasis; Ependymoma; Nasopharyngeal carcinoma; Cholangiocarcinoma; Papilloma; Neoplasm Recurrence, Local; Neoplasms, Experimental; Basal cell carcinoma; Medulloblastoma; Somatic mutation; Esophageal Neoplasms; Glioblastoma; Glioma; ovarian neoplasm; Adenocarcinoma; Renal Cell Carcinoma; Colonic Neoplasms; Animal Mammary Neoplasms; Mammary Neoplasms, Experimental; Neoplasm Metastasis; Lung Neoplasms; Stomach Neoplasms; Mammary Neoplasms; Prostatic Neoplasms; 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）：

多形性膠質(zhì)母細(xì)胞瘤；胃腸道腫瘤；致癌作用；胃癌；膽囊腫瘤;細(xì)支氣管肺泡腺癌；淋巴轉(zhuǎn)移；室管膜瘤；鼻咽癌；膽管癌；乳頭狀瘤;腫瘤反復(fù)局部；腫瘤實(shí)驗(yàn)性的；基底細(xì)胞癌；髓母細(xì)胞瘤;體細(xì)胞突變；食道腫瘤；膠質(zhì)母細(xì)胞瘤；神經(jīng)膠質(zhì)瘤；卵巢腫瘤;腺癌；腎細(xì)胞癌；結(jié)腸腫瘤；動(dòng)物乳腺腫瘤；乳腺腫瘤實(shí)驗(yàn)性的；腫瘤轉(zhuǎn)移；肺腫瘤；胃腫瘤；乳腺腫瘤；前列腺腫瘤；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）：

正在通過(guò)基因解碼技術(shù)進(jìn)行收集、查證并編輯，請(qǐng)關(guān)注佳學(xué)基因，獲得及時(shí)更新的人類基因序列變化與疾病表征數(shù)據(jù)庫(kù)的更新內(nèi)容

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）：

正在通過(guò)基因解碼技術(shù)進(jìn)行收集、查證并編輯，請(qǐng)關(guān)注佳學(xué)基因，獲得及時(shí)更新的人類基因序列變化與疾病表征數(shù)據(jù)庫(kù)的更新內(nèi)容

以該基因做靶點(diǎn)的藥物（國(guó)際版）：

Trastuzumab (Transmembrane signaling receptor activity);Lapatinib (Transmembrane signaling receptor activity);IGN311 (Transmembrane signaling receptor activity);XL647 (Transmembrane signaling receptor activity);Trastuzumab emtansine (Transmembrane signaling receptor activity);Pertuzumab (Transmembrane signaling receptor activity);Afatinib (Transmembrane signaling 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）：

曲妥珠單抗(跨膜信號(hào)受體活性);拉帕替尼(跨膜信號(hào)受體活性);IGN311(跨膜信號(hào)受體活性);XL647(跨膜信號(hào)受體活性);曲妥珠單抗emtansine(跨膜信號(hào)受體活性);帕妥珠單抗(跨膜信號(hào)受體活性);阿法替尼（跨膜信號(hào)受體活性）