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This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]
[中文简述(自动翻译):]  这个基因编码的小三磷酸鸟苷(GTP)-metabolizing蛋白质的Ras超家族的成员。所编码的蛋白质定位于质膜,在那里它调节多种工艺,例如分泌,吞噬作用,和细胞极化。该蛋白质的活性也参与活性氧的产生。在这种基因突变与嗜中性粒细胞性免疫缺陷综合征有关。没有为第6号染色体这个基因假基因[由RefSeq的,2013年7月提供]
RAC2基因(以及对应的蛋白质)的细胞分布位置:
RAC2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Neutrophil Immunodeficiency Syndrome | 0.482638474 | 1 | 1 | BeFree_CLINVAR_CTD_human_GAD_ORPHANET_UNIPROT |
Lymphoma | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Heart Diseases | 0.12 | 1 | 0 | CTD_human |
melanoma | 0.12 | 1 | 0 | CTD_human |
Juvenile Myelomonocytic Leukemia | 0.12 | 1 | 0 | CTD_human |
leukemia | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Glioma | 0.00272435 | 1 | 0 | LHGDN |
Brain Neoplasms | 0.002638474 | 2 | 0 | BeFree_GAD |
Lymphoma, Non-Hodgkin | 0.002638474 | 2 | 0 | BeFree_GAD |
HIV Infections | 0.002367032 | 1 | 0 | GAD |
Meningeal Neoplasms | 0.002367032 | 1 | 1 | GAD |
Meningioma | 0.002367032 | 1 | 1 | GAD |
Occupational Diseases | 0.002367032 | 1 | 0 | GAD |
Parkinson Disease | 0.002367032 | 1 | 0 | GAD |
Neoplasm Metastasis | 0.001085767 | 4 | 0 | BeFree |
Immunologic Deficiency Syndromes | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
CNS disorder | 0.000271442 | 1 | 0 | BeFree |
Crohn Disease | 0.000271442 | 1 | 0 | BeFree |
DiGeorge Syndrome | 0.000271442 | 1 | 0 | BeFree |
Graves Disease | 0.000271442 | 1 | 0 | BeFree |
Hematological Disease | 0.000271442 | 1 | 0 | BeFree |
Inflammatory Bowel Diseases | 0.000271442 | 1 | 0 | BeFree |
Irritable Bowel Syndrome | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
Leukemia, T-Cell | 0.000271442 | 1 | 0 | BeFree |
Lymphopenia | 0.000271442 | 1 | 0 | BeFree |
Osteoporosis, Postmenopausal | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Tangier Disease | 0.000271442 | 1 | 0 | BeFree |
Qualitative abnormality of granulocyte | 0.000271442 | 1 | 0 | BeFree |
Congenital neutropenia | 0.000271442 | 1 | 0 | BeFree |
Familial aplasia of the vermis | 0.000271442 | 1 | 0 | BeFree |
WHIM syndrome | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
Infantile malignant osteopetrosis | 0.000271442 | 1 | 0 | BeFree |
Central nervous system leukaemia | 0.000271442 | 1 | 0 | BeFree |
Recurrent infections (sinusitis and bacterial pneumonia and meningitis) | 0.000271442 | 1 | 0 | BeFree |
Severe congenital neutropenia | 0.000271442 | 1 | 0 | BeFree |
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