ERBB2(也称为HER2或NEU)是一种编码人类表皮生长因子受体2的基因,属于ERBB受体酪氨酸激酶家族。这个家族包括四个成员:ERBB1(EGFR/HER1)、ERBB2(HER2)、ERBB3(HER3)和ERBB4(HER4),它们共同参与细胞增殖、分化和存活的信号传导。ERBB2的特点是没有已知的配体直接结合,但它能与其他ERBB家族成员形成异源二聚体,从而激活下游信号通路,如MAPK和PI3K-AKT通路,促进细胞生长和存活。ERBB2在多种组织中表达,但在某些癌症中(如乳腺癌、胃癌和卵巢癌)常出现过表达或扩增,导致细胞不受控制地增殖,与肿瘤的侵袭性和不良预后相关。ERBB2基因的突变或扩增会导致其持续激活,进而促进肿瘤发展。例如,在约20%的乳腺癌患者中,ERBB2的过表达与更具侵袭性的肿瘤表型相关。针对ERBB2的靶向治疗药物(如曲妥珠单抗和帕妥珠单抗)已成功用于临床,显著改善了患者的预后。如果ERBB2表达降低,可能影响正常组织的发育和功能,例如心脏功能可能受损(曲妥珠单抗治疗的一个副作用是心脏毒性)。相反,过表达ERBB2不仅促进肿瘤发生,还可能影响其他基因的表达,如上调细胞周期相关基因(如Cyclin D1)或抗凋亡基因(如BCL-2)。ERBB2的异常表达还可能与耐药性相关,例如导致对化疗或内分泌治疗的抵抗。此外,ERBB2与其他信号通路(如雌激素受体通路)存在交叉作用,影响肿瘤的治疗反应。总之,ERBB2是一个关键的癌基因,其正常功能对细胞信号传导至关重要,而异常表达或突变则与多种癌症的发生和发展密切相关。针对ERBB2的靶向治疗已成为癌症治疗的重要策略之一。
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ERBB2基因(以及对应的蛋白质)的细胞分布位置:
ERBB2基因的本体(GO)信息:
| 名称 |
|---|
| 4012 ErbB signaling pathway [PATH:hsa04012] |
| 4066 HIF-1 signaling pathway [PATH:hsa04066] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4510 Focal adhesion [PATH:hsa04510] |
| 4520 Adherens junction [PATH:hsa04520] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5230 Central carbon metabolism in cancer [PATH:hsa05230] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5212 Pancreatic cancer [PATH:hsa05212] |
| 5219 Bladder cancer [PATH:hsa05219] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 5213 Endometrial cancer [PATH:hsa05213] |
| 5223 Non-small cell lung cancer [PATH:hsa05223] |
| 名称 |
|---|
| Adaptive Immune System |
| Axon guidance |
| Constitutive Signaling by Aberrant PI3K in Cancer |
| DAP12 interactions |
| DAP12 signaling |
| Developmental Biology |
| Disease |
| Diseases of signal transduction |
| Downregulation of ERBB2:ERBB3 signaling |
| Downstream signal transduction |
| Downstream signaling events of B Cell Receptor (BCR) |
| Downstream signaling of activated FGFR1 |
| Downstream signaling of activated FGFR2 |
| Downstream signaling of activated FGFR3 |
| Downstream signaling of activated FGFR4 |
| Fc epsilon receptor (FCERI) signaling |
| GAB1 signalosome |
| GRB2 events in ERBB2 signaling |
| GRB7 events in ERBB2 signaling |
| Immune System |
| Innate Immune System |
| NGF signalling via TRKA from the plasma membrane |
| PI-3K cascade:FGFR1 |
| PI-3K cascade:FGFR2 |
| PI-3K cascade:FGFR3 |
| PI-3K cascade:FGFR4 |
| PI3K events in ERBB2 signaling |
| PI3K events in ERBB4 signaling |
| PI3K/AKT activation |
| PI3K/AKT Signaling in Cancer |
| PIP3 activates AKT signaling |
| PLCG1 events in ERBB2 signaling |
| Role of LAT2/NTAL/LAB on calcium mobilization |
| Sema4D in semaphorin signaling |
| Sema4D induced cell migration and growth-cone collapse |
| Semaphorin interactions |
| SHC1 events in ERBB2 signaling |
| Signal Transduction |
| Signaling by EGFR |
| Signaling by ERBB2 |
| Signaling by ERBB4 |
| Signaling by FGFR |
| Signaling by FGFR1 |
| Signaling by FGFR2 |
| Signaling by FGFR3 |
| Signaling by FGFR4 |
| Signaling by PDGF |
| Signaling by SCF-KIT |
| Signaling by the B Cell Receptor (BCR) |
| Signalling by NGF |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Neoplasm Metastasis | 0.331048018 | 371 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
| Mammary Neoplasms | 0.289468128 | 538 | 0 | BeFree_CTD_human_GAD_LHGDN |
| ovarian neoplasm | 0.279458387 | 56 | 1 | BeFree_CLINVAR_CTD_human_LHGDN |
| Stomach Neoplasms | 0.263152011 | 16 | 1 | BeFree_CLINVAR_CTD_human_LHGDN |
| Malignant neoplasm of breast | 0.24 | 2853 | 22 | BeFree_GAD_MGD |
| Adenocarcinoma | 0.213796419 | 211 | 0 | BeFree_CTD_human_LHGDN |
| Mammary Neoplasms, Experimental | 0.2 | 3 | 0 | CTD_human_RGD |
| Carcinogenesis | 0.168859537 | 181 | 2 | BeFree_CTD_human |
| Prostatic Neoplasms | 0.153496597 | 25 | 0 | BeFree_CTD_human_LHGDN |
| Lung Neoplasms | 0.153496597 | 24 | 0 | BeFree_CTD_human_LHGDN |
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