EGFR(表皮生长因子受体)是一种重要的跨膜蛋白,属于受体酪氨酸激酶(RTK)家族中的ErbB家族(也称为HER家族),该家族包括EGFR(HER1/ErbB1)、HER2(ErbB2)、HER3(ErbB3)和HER4(ErbB4)。这些家族成员在细胞生长、增殖、分化和存活等过程中发挥关键作用,通过结合特定的生长因子(如EGF、TGF-α等)激活下游信号通路,如RAS-RAF-MAPK和PI3K-AKT通路。EGFR主要在上皮细胞、成纤维细胞和胶质细胞等细胞表面表达,其正常功能对组织发育和修复至关重要。EGFR的突变或异常表达与多种疾病密切相关,尤其是癌症。常见的EGFR突变(如外显子19缺失或L858R点突变)会导致受体持续激活,促进细胞不受控制的增殖,与非小细胞肺癌(NSCLC)、结直肠癌、头颈癌和胶质母细胞瘤等恶性肿瘤的发生发展相关。针对EGFR的靶向药物(如吉非替尼、厄洛替尼和奥希替尼)已广泛应用于临床治疗。EGFR过表达会增强下游信号通路的活性,导致细胞过度增殖和肿瘤形成,同时还可能影响其他基因的表达,如上调 cyclin D1 促进细胞周期进展或抑制凋亡相关基因(如 BAX)。相反,EGFR表达降低或功能缺失可能影响组织修复和细胞存活,导致发育异常或组织功能障碍。此外,EGFR与其他家族成员(如HER2)可形成异源二聚体,进一步放大信号传导,在癌症中常见HER2过表达与EGFR协同作用的情况。EGFR基因的遗传变异也可能影响个体对靶向药物的敏感性或耐药性,例如T790M突变会导致对一代EGFR抑制剂的耐药性。总之,EGFR作为细胞信号传导的核心分子,其功能异常对疾病发生和治疗具有深远影响,深入研究其机制有助于开发更有效的抗癌策略。
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EGFR基因(以及对应的蛋白质)的细胞分布位置:
EGFR基因的本体(GO)信息:
| 名称 |
|---|
| 4014 Ras signaling pathway [PATH:hsa04014] |
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 4010 MAPK signaling pathway [PATH:hsa04010] |
| 4012 ErbB signaling pathway [PATH:hsa04012] |
| 4066 HIF-1 signaling pathway [PATH:hsa04066] |
| 4068 FoxO signaling pathway [PATH:hsa04068] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4060 Cytokine-cytokine receptor interaction [PATH:hsa04060] |
| 4144 Endocytosis [PATH:hsa04144] |
| 4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
| 4510 Focal adhesion [PATH:hsa04510] |
| 4520 Adherens junction [PATH:hsa04520] |
| 4540 Gap junction [PATH:hsa04540] |
| 4912 GnRH signaling pathway [PATH:hsa04912] |
| 4915 Estrogen signaling pathway [PATH:hsa04915] |
| 4921 Oxytocin signaling pathway [PATH:hsa04921] |
| 4320 Dorso-ventral axis formation [PATH:hsa04320] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5230 Central carbon metabolism in cancer [PATH:hsa05230] |
| 5231 Choline metabolism in cancer [PATH:hsa05231] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5212 Pancreatic cancer [PATH:hsa05212] |
| 5214 Glioma [PATH:hsa05214] |
| 5218 Melanoma [PATH:hsa05218] |
| 5219 Bladder cancer [PATH:hsa05219] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 5213 Endometrial cancer [PATH:hsa05213] |
| 5223 Non-small cell lung cancer [PATH:hsa05223] |
| 5120 Epithelial cell signaling in Helicobacter pylori infection [PATH:hsa05120] |
| 5160 Hepatitis C [PATH:hsa05160] |
| 名称 |
|---|
| Adaptive Immune System |
| Axon guidance |
| Constitutive Signaling by Aberrant PI3K in Cancer |
| Constitutive Signaling by EGFRvIII |
| Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants |
| DAP12 interactions |
| DAP12 signaling |
| Developmental Biology |
| Disease |
| Diseases of signal transduction |
| 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 |
| EGFR downregulation |
| EGFR interacts with phospholipase C-gamma |
| EGFR Transactivation by Gastrin |
| Fc epsilon receptor (FCERI) signaling |
| GAB1 signalosome |
| Gastrin-CREB signalling pathway via PKC and MAPK |
| GRB2 events in EGFR signaling |
| GRB2 events in ERBB2 signaling |
| Immune System |
| Inhibition of Signaling by Overexpressed EGFR |
| Innate Immune System |
| L1CAM interactions |
| 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 |
| SHC1 events in EGFR signaling |
| SHC1 events in ERBB2 signaling |
| Signal Transduction |
| Signal transduction by L1 |
| Signaling by EGFR |
| Signaling by EGFR in Cancer |
| Signaling by EGFRvIII in Cancer |
| Signaling by ERBB2 |
| Signaling by ERBB4 |
| Signaling by FGFR |
| Signaling by FGFR1 |
| Signaling by FGFR2 |
| Signaling by FGFR3 |
| Signaling by FGFR4 |
| Signaling by GPCR |
| Signaling by Ligand-Responsive EGFR Variants in Cancer |
| Signaling by Overexpressed Wild-Type EGFR in Cancer |
| 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 |
| Non-Small Cell Lung Carcinoma | 0.384981818 | 1698 | 11 | BeFree_CLINVAR_CTD_human_GAD_LHGDN |
| Adenocarcinoma | 0.36 | 600 | 6 | BeFree_CTD_human_GAD_LHGDN |
| Lung Neoplasms | 0.298458047 | 212 | 2 | BeFree_CTD_human_GAD_LHGDN |
| Squamous cell carcinoma | 0.276687359 | 254 | 3 | BeFree_CTD_human_GAD_LHGDN |
| Glioblastoma | 0.255782082 | 390 | 3 | BeFree_CTD_human_GAD_LHGDN |
| Neoplasm Metastasis | 0.229100734 | 280 | 3 | BeFree_CTD_human_GAD_LHGDN |
| Glioma | 0.222572316 | 245 | 9 | BeFree_GAD_GWASCAT_LHGDN |
| Mammary Neoplasms | 0.215396242 | 86 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Cardiomyopathy, Dilated | 0.202638474 | 3 | 0 | BeFree_CTD_human_GAD_RGD |
| Acute kidney injury | 0.2 | 2 | 0 | CTD_human_RGD |
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