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The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
[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3,其控制生产,分化,和粒细胞的功能的细胞因子的受体。所编码的蛋白质,这是家族细胞因子受体的一个成员,也可以起到在某些细胞表面粘附或识别过程。可变剪接转录物变体已有描述。在这个基因的突变是Kostmann的综合征,也称为严重的先天性中性白细胞减少症的一个原因。 [由RefSeq的,2010年8月提供]
CSF3R基因(以及对应的蛋白质)的细胞分布位置:
CSF3R基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Neutrophilia, Hereditary | 0.560814326 | 3 | 1 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Severe congenital neutropenia | 0.134929303 | 55 | 3 | BeFree_CLINVAR |
Chronic Neutrophilic Leukemia | 0.124071628 | 15 | 0 | BeFree_ORPHANET |
Leukocytosis | 0.12 | 1 | 0 | CTD_human |
Leukemia, Myelocytic, Acute | 0.020116493 | 46 | 0 | BeFree_LHGDN |
Neutropenia | 0.016250294 | 15 | 0 | BeFree_GAD_LHGDN |
Congenital neutropenia | 0.014386419 | 53 | 0 | BeFree |
MYELODYSPLASTIC SYNDROME | 0.012440176 | 8 | 0 | BeFree_GAD_LHGDN |
leukemia | 0.006253095 | 14 | 0 | BeFree_LHGDN |
Bladder Neoplasm | 0.0054487 | 2 | 0 | LHGDN |
Cerebrovascular accident | 0.00272435 | 1 | 0 | LHGDN |
Leukopenia | 0.002714419 | 10 | 0 | BeFree |
Leukemogenesis | 0.002714419 | 10 | 0 | BeFree |
Myeloid Leukemia | 0.002638474 | 2 | 0 | BeFree_GAD |
Preleukemia | 0.002442977 | 9 | 0 | BeFree |
Asthma | 0.002367032 | 1 | 0 | GAD |
Bronchiolitis, Viral | 0.002367032 | 1 | 0 | GAD |
Respiratory Syncytial Virus Infections | 0.002367032 | 1 | 0 | GAD |
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | 0.001628651 | 6 | 0 | BeFree |
Myeloproliferative disease | 0.001085767 | 4 | 0 | BeFree |
Chronic myeloproliferative disorder | 0.000814326 | 3 | 0 | BeFree |
Neutropenia, severe chronic | 0.000814326 | 3 | 0 | BeFree |
Congenital chromosomal disease | 0.000542884 | 2 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000542884 | 2 | 0 | BeFree |
Monosomy | 0.000542884 | 2 | 0 | BeFree |
Myelodysplasia | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Ovarian Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Thrombocythemia, Essential | 0.000542884 | 2 | 0 | BeFree |
Cyclic neutropenia | 0.000542884 | 2 | 0 | BeFree |
Leukemia secondary | 0.000542884 | 2 | 0 | BeFree |
Primary Myelofibrosis | 0.000271442 | 1 | 1 | BeFree |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
Blast Phase | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelomonocytic, Chronic | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Monoclonal Gammopathy of Undetermined Significance | 0.000271442 | 1 | 0 | BeFree |
Myelofibrosis | 0.000271442 | 1 | 1 | BeFree |
Nephroblastoma | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Acute leukemia | 0.000271442 | 1 | 0 | BeFree |
pediatric acute myeloblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
Chronic neutrophilia | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
secondary acute myeloid leukemia | 0.000271442 | 1 | 0 | BeFree |
Autoimmune neutropenia | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Primary immune deficiency disorder | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Chronic neutropenia | 0.000271442 | 1 | 0 | BeFree |
Monoclonal Gammapathies | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.000271442 | 1 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Severe Aplastic Anemia | 0.000271442 | 1 | 0 | BeFree |
Neutrophilia (disorder) | 0.000271442 | 1 | 0 | BeFree |
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