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The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
[中文简述(自动翻译):]  由该基因编码的蛋白质是集落刺激因子1,其控制生产,分化,和巨噬细胞功能的细胞因子的受体。如果不是所有的这种细胞因子的生物效应该受体介导大多数。配体结合通过低聚和磷酸转移的过程激活受体激酶。所编码的蛋白质是CSF1 / PDGF受体家族酪氨酸蛋白激酶的酪氨酸激酶跨膜受体和构件。在这种基因突变已与易感性骨髓恶性肿瘤相关。该基因的第一个内含子包含在相反方向上定向的无转录活性的核糖体蛋白L7加工型假。选择性剪接结果在多个抄本变形。 [由RefSeq的,2013年12月提供]
CSF1R基因(以及对应的蛋白质)的细胞分布位置:
CSF1R基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hereditary Diffuse Leukoencephalopathy with Spheroids | 0.244614512 | 17 | 2 | BeFree_ORPHANET_UNIPROT |
Leukemia, Myelocytic, Acute | 0.136306375 | 43 | 0 | BeFree_CTD_human_LHGDN |
Neoplasm Metastasis | 0.124353001 | 8 | 0 | BeFree_CTD_human_LHGDN |
Mammary Neoplasms | 0.122995792 | 3 | 0 | BeFree_CTD_human_LHGDN |
Leukoencephalopathies | 0.121357209 | 6 | 0 | BeFree_CTD_human |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Anti-Glomerular Basement Membrane Disease | 0.08 | 1 | 0 | RGD |
MYELODYSPLASTIC SYNDROME | 0.00554839 | 4 | 0 | BeFree_GAD |
Malignant neoplasm of breast | 0.004071628 | 15 | 0 | BeFree |
Breast Carcinoma | 0.003800186 | 14 | 0 | BeFree |
Acute Promyelocytic Leukemia | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Acute Megakaryocytic Leukemias | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Asthma | 0.002638474 | 1 | 0 | BeFree_GAD |
Malignant neoplasm of lung | 0.002638474 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Crohn Disease | 0.002367032 | 1 | 0 | GAD |
Congenital Heart Defects | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Pancreatic Neoplasm | 0.002367032 | 1 | 0 | GAD |
Parkinson Disease | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Immune thrombocytopenic purpura | 0.002367032 | 1 | 0 | GAD |
leukemia | 0.001900093 | 7 | 0 | BeFree |
Preleukemia | 0.001628651 | 6 | 0 | BeFree |
Leukemogenesis | 0.001357209 | 5 | 0 | BeFree |
Acute lymphocytic leukemia | 0.001085767 | 4 | 0 | BeFree |
Ovarian Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Pigmented villonodular synovitis | 0.001085767 | 4 | 0 | BeFree |
Chromosome 5, trisomy 5q | 0.001085767 | 4 | 0 | BeFree |
Adenocarcinoma | 0.000814326 | 3 | 0 | BeFree |
Myeloid Leukemia | 0.000814326 | 3 | 0 | BeFree |
Leukemia, Myelomonocytic, Chronic | 0.000814326 | 3 | 0 | BeFree |
Leukodystrophy | 0.000814326 | 3 | 0 | BeFree |
Lymphoma | 0.000814326 | 3 | 0 | BeFree |
Myelodysplasia | 0.000814326 | 3 | 0 | BeFree |
Acute leukemia | 0.000814326 | 3 | 0 | BeFree |
Congenital neutropenia | 0.000814326 | 3 | 0 | BeFree |
Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
Epithelial ovarian cancer | 0.000814326 | 3 | 0 | BeFree |
5q-syndrome | 0.000814326 | 3 | 0 | BeFree |
Multiple Sclerosis, Primary Progressive | 0.000814326 | 3 | 0 | BeFree |
Sarcoma | 0.000814326 | 3 | 0 | BeFree |
Myelodysplastic Syndrome with Isolated del(5q) | 0.000814326 | 3 | 0 | BeFree |
Severe congenital neutropenia | 0.000814326 | 3 | 0 | BeFree |
Malignant tumor of colon | 0.000542884 | 2 | 0 | BeFree |
Choriocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
Ki-1+ Anaplastic Large Cell Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Conventional (Clear Cell) Renal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Hematopoietic Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Endometrial Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
Classical Hodgkin's Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Anemia, Macrocytic | 0.000271442 | 1 | 0 | BeFree |
Refractory anemias | 0.000271442 | 1 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of endometrium | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of thyroid | 0.000271442 | 1 | 0 | BeFree |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colitis | 0.000271442 | 1 | 0 | BeFree |
Congenital Hypothyroidism | 0.000271442 | 1 | 0 | BeFree |
Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Endometriosis | 0.000271442 | 1 | 0 | BeFree |
Fibrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Hyperglycemia | 0.000271442 | 1 | 0 | BeFree |
Kidney Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute Erythroblastic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Liver diseases | 0.000271442 | 1 | 0 | BeFree |
Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
Mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
Mitral Valve Stenosis | 0.000271442 | 1 | 0 | BeFree |
Multiple Sclerosis | 0.000271442 | 1 | 0 | BeFree |
nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
Osteoporosis | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
Peritonitis | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Alveolar Proteinosis | 0.000271442 | 1 | 0 | BeFree |
Post-Traumatic Stress Disorder | 0.000271442 | 1 | 0 | BeFree |
Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
Synovitis | 0.000271442 | 1 | 0 | BeFree |
Thymoma | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Germ cell tumor | 0.000271442 | 1 | 0 | BeFree |
Fibrosing adenosis | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Parkinsonian Disorders | 0.000271442 | 1 | 0 | BeFree |
Carcinoma breast stage IV | 0.000271442 | 1 | 0 | BeFree |
Stage IV Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cancer of Head and Neck | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
Acute Undifferentiated Leukemia | 0.000271442 | 1 | 0 | BeFree |
Menstrual spotting | 0.000271442 | 1 | 0 | BeFree |
Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
Endemic Cretinism | 0.000271442 | 1 | 0 | BeFree |
Recurrent tumor | 0.000271442 | 1 | 0 | BeFree |
Neurodegenerative Disorders | 0.000271442 | 1 | 0 | BeFree |
Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Ewings sarcoma | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
Monocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant Peripheral Nerve Sheath Tumor | 0.000271442 | 1 | 0 | BeFree |
Malignant Pleural Mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Infectious disease of lung | 0.000271442 | 1 | 0 | BeFree |
ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
Respiratory Failure | 0.000271442 | 1 | 0 | BeFree |
Endometrial adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Inflammatory disorder | 0.000271442 | 1 | 0 | BeFree |
Partial Trisomy | 0.000271442 | 1 | 0 | BeFree |
Fibrous histiocytoma of tendon sheath | 0.000271442 | 1 | 0 | BeFree |
M5b Acute differentiated monocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Breast Sclerosing Adenosis | 0.000271442 | 1 | 0 | BeFree |
Epithelioma | 0.000271442 | 1 | 0 | BeFree |
Undifferentiated leukemia | 0.000271442 | 1 | 0 | BeFree |
Hereditary Hyperexplexia | 0.000271442 | 1 | 0 | BeFree |
Uterine Corpus Cancer | 0.000271442 | 1 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Myeloid neoplasm | 0.000271442 | 1 | 0 | BeFree |
Refractory anemia, without ringed sideroblasts, without excess blasts | 0.000271442 | 1 | 0 | BeFree |
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