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This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
[中文简述(自动翻译):]  该基因编码促红细胞生成素受体是细胞因子受体家族的一个成员。经促红细胞生成素的结合,这种受体激活从而激活细胞内的不同途径,包括Jak2的酪氨酸激酶:RAS / MAP激酶,磷酸肌醇3-激酶和STAT转录因子。受激促红细胞生成素受体似乎在红细胞细胞存活的作用。在红细胞生成素受体缺陷可能产生白血病和家族性红细胞增多症。该基因的调节异常可能会影响某些肿瘤的生长。选择性剪接结果在多个抄本变形。[由RefSeq的,2010年5月提供]
EPOR基因(以及对应的蛋白质)的细胞分布位置:
EPOR基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Familial erythrocytosis | 0.445352893 | 13 | 2 | BeFree_CTD_human_GAD_MGD_ORPHANET_UNIPROT |
Polycythemia | 0.130877538 | 22 | 1 | BeFree_CTD_human_LHGDN |
Mammary Neoplasms | 0.125720142 | 4 | 0 | BeFree_CTD_human_LHGDN |
Acute Erythroblastic Leukemia | 0.124895885 | 9 | 1 | BeFree_CLINVAR_LHGDN |
Neoplasm Metastasis | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
Thyroid Neoplasm | 0.12272435 | 1 | 0 | CTD_human_LHGDN |
melanoma | 0.121085767 | 4 | 0 | BeFree_CTD_human |
Neoplasm Invasiveness | 0.12 | 1 | 0 | CTD_human |
Nerve Degeneration | 0.12 | 1 | 0 | CTD_human |
Glioma | 0.080542884 | 2 | 0 | BeFree_RGD |
Cholangiocarcinoma | 0.080271442 | 1 | 0 | BeFree_RGD |
Fetal Distress | 0.08 | 1 | 0 | RGD |
Hepatic Encephalopathy | 0.08 | 1 | 0 | RGD |
Myocardial Infarction | 0.08 | 1 | 0 | RGD |
Brain Hypoxia | 0.08 | 2 | 0 | RGD |
leukemia | 0.006534468 | 5 | 0 | BeFree_LHGDN |
Myeloproliferative disease | 0.005362824 | 3 | 0 | BeFree_GAD_LHGDN |
MYELODYSPLASTIC SYNDROME | 0.005091382 | 2 | 0 | GAD_LHGDN |
Polycythemia Vera | 0.004810009 | 9 | 6 | BeFree_GAD |
Renal Cell Carcinoma | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Squamous cell carcinoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Pheochromocytoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Alzheimer's Disease | 0.00272435 | 1 | 0 | LHGDN |
Anoxia | 0.00272435 | 1 | 0 | LHGDN |
Cyst | 0.00272435 | 1 | 0 | LHGDN |
Endometrial Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Endometriosis | 0.00272435 | 1 | 0 | LHGDN |
Head and Neck Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Hyperplasia | 0.00272435 | 1 | 0 | LHGDN |
Mesothelioma | 0.00272435 | 1 | 0 | LHGDN |
Parathyroid Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
ovarian neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Thrombocythemia, Essential | 0.002638474 | 1 | 4 | BeFree_GAD |
Lymphoproliferative Disorders | 0.002367032 | 1 | 0 | GAD |
Erythrocytosis | 0.002171535 | 8 | 0 | BeFree |
Malignant neoplasm of breast | 0.001357209 | 5 | 0 | BeFree |
Tumor Progression | 0.001357209 | 5 | 0 | BeFree |
Breast Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Prostate carcinoma | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000814326 | 3 | 0 | BeFree |
Brain Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Kidney Failure, Chronic | 0.000542884 | 2 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000542884 | 2 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Primary Myelofibrosis | 0.000271442 | 1 | 4 | BeFree |
Anemia | 0.000271442 | 1 | 0 | BeFree |
Cardiovascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Ependymoma | 0.000271442 | 1 | 0 | BeFree |
Von Hippel-Lindau Syndrome | 0.000271442 | 1 | 0 | BeFree |
Hypertensive disease | 0.000271442 | 1 | 0 | BeFree |
Ischemia | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.000271442 | 1 | 0 | BeFree |
Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
Monoclonal Gammopathy of Undetermined Significance | 0.000271442 | 1 | 0 | BeFree |
Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
Hepatoblastoma | 0.000271442 | 1 | 0 | BeFree |
Female Pseudohermaphroditism | 0.000271442 | 1 | 0 | BeFree |
Anemia, severe | 0.000271442 | 1 | 0 | BeFree |
Chronic myocardial ischemia | 0.000271442 | 1 | 0 | BeFree |
Simple renal cyst | 0.000271442 | 1 | 0 | BeFree |
Malignant mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of kidney | 0.000271442 | 1 | 0 | BeFree |
Cardiac defects | 0.000271442 | 1 | 0 | BeFree |
High-Grade Prostatic Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
tumor vasculature | 0.000271442 | 1 | 0 | BeFree |
Parvovirus B19 (disease) | 0.000271442 | 1 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Anemia in malignant neoplastic disease | 0.000271442 | 1 | 0 | BeFree |
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