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This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的表皮生长因子受体(EGFR)家族的受体酪氨酸激酶的成员。这种膜结合蛋白具有神经调节蛋白结合结构域,但不活性激酶结构域。因此,它可以结合这种配位体,但通过蛋白磷酸化不是信号传送到细胞中。但是,它确实形式的异源二聚体与其它EGF受体家族成员确实具有激酶活性。异二聚导致通路从而导致细胞增殖或分化的激活。此基因和/或它的蛋白质的过表达的扩增已经报道在许多癌症,包括前列腺癌,膀胱癌,和乳房肿瘤。替代转录剪接变异体编码不同亚型进行了表征。一种同种型缺乏膜间区域和被分泌到细胞外。这种形式的作用以调节膜结合形式的活性。附加剪接变体也有报道,但还没有被充分表征。 [由RefSeq的,2008年7月提供]
ERBB3基因(以及对应的蛋白质)的细胞分布位置:
ERBB3基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Lethal Congenital Contracture Syndrome 2 | 0.36 | 0 | 0 | CLINVAR_CTD_human_ORPHANET |
| Diabetes Mellitus, Insulin-Dependent | 0.160315489 | 20 | 3 | BeFree_GAD_GWASCAT |
| Mammary Neoplasms | 0.137964821 | 21 | 0 | BeFree_CTD_human_LHGDN |
| Prostatic Neoplasms | 0.133621751 | 5 | 0 | CTD_human_LHGDN |
| Lung Neoplasms | 0.128715934 | 5 | 1 | BeFree_CTD_human_LHGDN |
| Disease Progression | 0.125091382 | 3 | 0 | CTD_human_GAD_LHGDN |
| gallbladder neoplasm | 0.12 | 1 | 0 | CTD_human |
| Obesity | 0.12 | 1 | 1 | GWASCAT |
| Nasopharyngeal carcinoma | 0.12 | 1 | 0 | CTD_human |
| Chronic Obstructive Airway Disease | 0.08 | 1 | 0 | RGD |
| Mouth Neoplasms | 0.08 | 1 | 0 | RGD |
| Wallerian Degeneration | 0.08 | 1 | 0 | RGD |
| Median Neuropathy | 0.08 | 1 | 0 | RGD |
| Malignant neoplasm of breast | 0.018458047 | 68 | 1 | BeFree |
| Breast Carcinoma | 0.018186605 | 67 | 1 | BeFree |
| Neoplasm Metastasis | 0.012244679 | 18 | 0 | BeFree_LHGDN |
| Schizophrenia | 0.012082858 | 9 | 0 | BeFree_GAD_LHGDN |
| melanoma | 0.007891677 | 11 | 0 | BeFree_LHGDN |
| Non-Small Cell Lung Carcinoma | 0.005981653 | 12 | 0 | BeFree_LHGDN |
| Stomach Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
| Carcinogenesis | 0.004885954 | 18 | 0 | BeFree |
| Malignant neoplasm of lung | 0.004810009 | 10 | 0 | BeFree_GAD |
| Malignant neoplasm of ovary | 0.004810009 | 10 | 0 | BeFree_GAD |
| Autoimmune Diseases | 0.004734064 | 2 | 0 | GAD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.004734064 | 2 | 1 | GAD |
| Adenocarcinoma | 0.00408156 | 5 | 0 | BeFree_LHGDN |
| Sarcoma, Clear Cell | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Ductal Carcinoma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Glioma | 0.002909916 | 3 | 0 | BeFree_GAD |
| Astrocytoma | 0.00272435 | 1 | 0 | LHGDN |
| Bladder Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
| Carcinoma, Transitional Cell | 0.00272435 | 1 | 0 | LHGDN |
| Charcot-Marie-Tooth Disease | 0.00272435 | 1 | 0 | LHGDN |
| Fibroid Tumor | 0.00272435 | 1 | 0 | LHGDN |
| Pulmonary Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
| Thyroid Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
| Ovarian Carcinoma | 0.002714419 | 10 | 0 | BeFree |
| Brain Neoplasms | 0.002638474 | 2 | 0 | BeFree_GAD |
| Carcinoma of lung | 0.002442977 | 9 | 0 | BeFree |
| Colorectal Cancer | 0.002442977 | 9 | 0 | BeFree |
| Addison Disease | 0.002367032 | 1 | 0 | GAD |
| Rheumatoid Arthritis | 0.002367032 | 1 | 0 | GAD |
| Celiac Disease | 0.002367032 | 1 | 0 | GAD |
| Crohn Disease | 0.002367032 | 1 | 0 | GAD |
| Hypertensive disease | 0.002367032 | 1 | 0 | GAD |
| Lupus Erythematosus, Systemic | 0.002367032 | 1 | 0 | GAD |
| Multiple Sclerosis | 0.002367032 | 1 | 0 | GAD |
| Coronary Artery Disease | 0.002367032 | 1 | 0 | GAD |
| Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | 0.002367032 | 1 | 0 | GAD |
| Juvenile arthritis | 0.002367032 | 1 | 0 | GAD |
| Malignant tumor of colon | 0.002171535 | 8 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.002171535 | 8 | 0 | BeFree |
| Tumor Progression | 0.002171535 | 8 | 0 | BeFree |
| Pancreatic carcinoma | 0.002171535 | 8 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.002171535 | 8 | 0 | BeFree |
| Colon Carcinoma | 0.002171535 | 8 | 0 | BeFree |
| Colorectal Carcinoma | 0.001900093 | 7 | 0 | BeFree |
| Squamous cell carcinoma | 0.001628651 | 6 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.001628651 | 6 | 0 | BeFree |
| Prostate carcinoma | 0.001628651 | 6 | 0 | BeFree |
| Stomach Carcinoma | 0.001628651 | 6 | 0 | BeFree |
| Adenocarcinoma of lung (disorder) | 0.001357209 | 5 | 0 | BeFree |
| Glioblastoma | 0.001085767 | 4 | 0 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.001085767 | 4 | 0 | BeFree |
| Rhabdoid Tumor of the Kidney | 0.001085767 | 4 | 0 | BeFree |
| Squamous cell carcinoma of the head and neck | 0.001085767 | 4 | 0 | BeFree |
| Acute Erythroblastic Leukemia | 0.000814326 | 3 | 0 | BeFree |
| Metastatic malignant neoplasm to brain | 0.000814326 | 3 | 0 | BeFree |
| Carcinoma breast stage IV | 0.000814326 | 3 | 0 | BeFree |
| Adenoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of urinary bladder | 0.000542884 | 2 | 0 | BeFree |
| Renal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Diabetes Mellitus | 0.000542884 | 2 | 6 | BeFree |
| Immunologic Deficiency Syndromes | 0.000542884 | 2 | 0 | BeFree |
| Multiple Myeloma | 0.000542884 | 2 | 0 | BeFree |
| Osteosarcoma | 0.000542884 | 2 | 0 | BeFree |
| Esophageal carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Cancer of Head and Neck | 0.000542884 | 2 | 0 | BeFree |
| Pilocytic Astrocytoma | 0.000542884 | 2 | 0 | BeFree |
| Osteosarcoma of bone | 0.000542884 | 2 | 0 | BeFree |
| Epithelial ovarian cancer | 0.000542884 | 2 | 0 | BeFree |
| Carcinoma of bladder | 0.000542884 | 2 | 0 | BeFree |
| Adenocarcinoma of large intestine | 0.000542884 | 2 | 0 | BeFree |
| Hormone refractory prostate cancer | 0.000542884 | 2 | 0 | BeFree |
| Mammary Tumorigenesis | 0.000542884 | 2 | 0 | BeFree |
| Arthrogryposis | 0.000271442 | 1 | 0 | BeFree |
| Neurogenic Urinary Bladder | 0.000271442 | 1 | 0 | BeFree |
| Carcinoid Tumor | 0.000271442 | 1 | 0 | BeFree |
| Rectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Choriocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Colonic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Patent ductus arteriosus | 0.000271442 | 1 | 0 | BeFree |
| Ganglioneuroma | 0.000271442 | 1 | 0 | BeFree |
| Intestinal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Meningioma | 0.000271442 | 1 | 0 | BeFree |
| Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Acoustic Neuroma | 0.000271442 | 1 | 0 | BeFree |
| Prolactinoma | 0.000271442 | 1 | 0 | BeFree |
| Rhabdomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Palindromic rheumatism | 0.000271442 | 1 | 0 | BeFree |
| Polymyositis | 0.000271442 | 1 | 6 | BeFree |
| Pancreatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Cutaneous Melanoma | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of bone | 0.000271442 | 1 | 0 | BeFree |
| Autoimmune thyroid disease | 0.000271442 | 1 | 4 | BeFree |
| Diabetes, Autoimmune | 0.000271442 | 1 | 0 | BeFree |
| Choroid Plexus Papilloma | 0.000271442 | 1 | 0 | BeFree |
| Alveolar rhabdomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma, Lobular | 0.000271442 | 1 | 0 | BeFree |
| Ganglioneuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| childhood rhabdomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Comedone | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma, Small Cell | 0.000271442 | 1 | 0 | BeFree |
| Erythroblastosis | 0.000271442 | 1 | 0 | BeFree |
| Stage II Colon Cancer | 0.000271442 | 1 | 0 | BeFree |
| Prostate cancer recurrent | 0.000271442 | 1 | 0 | BeFree |
| alveolar childhood rhabdomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma Of Esophagus | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of oropharynx | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of pancreas | 0.000271442 | 1 | 0 | BeFree |
| Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinoid tumor no ICD-O subtype | 0.000271442 | 1 | 0 | BeFree |
| Hydatidiform Mole, Partial | 0.000271442 | 1 | 0 | BeFree |
| Multiple malignancy | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of omentum | 0.000271442 | 1 | 0 | BeFree |
| Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Tumor Initiation | 0.000271442 | 1 | 0 | BeFree |
| Progressive Neoplastic Disease | 0.000271442 | 1 | 0 | BeFree |
| Complete hydatidiform mole | 0.000271442 | 1 | 0 | BeFree |
| Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Idiopathic Inflammatory Myopathies | 0.000271442 | 1 | 0 | BeFree |
| Breast adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Metastatic Prostate Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Gestational Trophoblastic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Mesenchymal Cell Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Epithelioma | 0.000271442 | 1 | 0 | BeFree |
| Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
| Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
| LETHAL CONGENITAL CONTRACTURE SYNDROME 1 | 0.000271442 | 1 | 0 | BeFree |
| Gestational trophoblastic disease | 0.000271442 | 1 | 0 | BeFree |
| Clear-cell metastatic renal cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
| HYDATIDIFORM MOLE, RECURRENT, 1 | 0.000271442 | 1 | 0 | BeFree |
| Progressive cGVHD | 0.000271442 | 1 | 0 | BeFree |
| ESTROGEN RESISTANCE | 0.000271442 | 1 | 0 | BeFree |
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