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This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]
[中文简述(自动翻译):]  该基因编码一个ETS家族的转录因子。该基因的产物含有两个功能域:N-末端尖(PNT)是参与与自身和其他蛋白质的蛋白质 - 蛋白质相互作用结构域和C末端的DNA结合结构域。小鼠基因敲除的研究表明,它是所需的造血和显影血管网的维修。这种基因是已知参与了大量与白血病和先天性纤维肉瘤相关的染色体重排的。 [由RefSeq的,2008年9月提供]
ETV6基因(以及对应的蛋白质)的细胞分布位置:
ETV6基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Leukemia, Myelocytic, Acute | 0.2605735 | 49 | 2 | BeFree_CLINVAR_CTD_human_GAD_LHGDN |
| Hematologic Neoplasms | 0.247057489 | 26 | 3 | BeFree_CLINVAR_CTD_human |
| Thrombocytopenia | 0.24 | 2 | 2 | CLINVAR_CTD_human |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.189009332 | 116 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Leukemia, Myelomonocytic, Chronic | 0.122442977 | 9 | 0 | BeFree_ORPHANET |
| Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 0.121900093 | 10 | 0 | BeFree_CTD_human |
| Congenital Mesoblastic Nephroma | 0.121628651 | 6 | 0 | BeFree_ORPHANET |
| Fibrosarcoma | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
| Substance-Related Disorders | 0.12 | 1 | 0 | CTD_human |
| Papillary thyroid carcinoma | 0.12 | 0 | 0 | ORPHANET |
| Macrocytosis, Familial | 0.12 | 1 | 0 | CTD_human |
| MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | 0.12 | 0 | 0 | CTD_human |
| LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 1 | 0.12 | 0 | 2 | CLINVAR |
| Juvenile arthritis | 0.12 | 1 | 0 | CTD_human |
| LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 | 0.12 | 0 | 0 | ORPHANET |
| THROMBOCYTOPENIA 5 | 0.12 | 1 | 0 | UNIPROT |
| leukemia | 0.039961544 | 92 | 0 | BeFree_LHGDN |
| Acute lymphocytic leukemia | 0.038816188 | 143 | 0 | BeFree |
| Leukemia, Lymphocytic, Acute, L1 | 0.028425452 | 96 | 3 | BeFree_GAD |
| Leukemogenesis | 0.010314791 | 38 | 0 | BeFree |
| MYELODYSPLASTIC SYNDROME | 0.007262917 | 9 | 0 | BeFree_GAD_LHGDN |
| Precursor B-cell lymphoblastic leukemia | 0.007057489 | 26 | 0 | BeFree |
| Myeloid Leukemia, Chronic | 0.006253095 | 14 | 0 | BeFree_LHGDN |
| Myeloid Leukemia | 0.005981653 | 12 | 0 | BeFree_LHGDN |
| Congenital chromosomal disease | 0.005700279 | 21 | 0 | BeFree |
| Neoplasm, Residual | 0.004885954 | 18 | 0 | BeFree |
| Eosinophilia | 0.004353001 | 7 | 0 | BeFree_LHGDN |
| Infantile fibrosarcoma | 0.004071628 | 15 | 0 | BeFree |
| Secretory breast carcinoma | 0.003528744 | 13 | 0 | BeFree |
| Primary Myelofibrosis | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Meningioma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Peripheral T-Cell Lymphoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Acute leukemia | 0.002985861 | 11 | 0 | BeFree |
| Acute Megakaryocytic Leukemias | 0.00272435 | 1 | 0 | LHGDN |
| Polycythemia Vera | 0.00272435 | 1 | 0 | LHGDN |
| Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Lymphoid leukemia | 0.002714419 | 10 | 0 | BeFree |
| MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0.002714419 | 10 | 0 | BeFree |
| Preleukemia | 0.002442977 | 9 | 0 | BeFree |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.002442977 | 9 | 0 | BeFree |
| Carotid Stenosis | 0.002367032 | 1 | 1 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Multiple System Atrophy | 0.002367032 | 1 | 0 | GAD |
| Down Syndrome | 0.002171535 | 8 | 0 | BeFree |
| Hematopoietic Neoplasms | 0.002171535 | 8 | 0 | BeFree |
| Lymphohistiocytosis, Hemophagocytic | 0.001900093 | 7 | 0 | BeFree |
| Myeloproliferative disease | 0.001900093 | 7 | 0 | BeFree |
| Salivary Gland Neoplasms | 0.001900093 | 7 | 0 | BeFree |
| Eosinophilic disorder | 0.001900093 | 7 | 0 | BeFree |
| Acinar Cell Carcinoma | 0.001628651 | 6 | 0 | BeFree |
| B-cell childhood acute lymphoblastic leukemia | 0.001628651 | 6 | 0 | BeFree |
| Adult Acute Lymphocytic Leukemia | 0.001628651 | 6 | 0 | BeFree |
| Disorder characterized by eosinophilia | 0.001628651 | 6 | 0 | BeFree |
| Malignant neoplasm of breast | 0.001357209 | 5 | 0 | BeFree |
| Breast Carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Ataxia Telangiectasia | 0.001085767 | 4 | 0 | BeFree |
| Malignant Childhood Neoplasm | 0.001085767 | 4 | 0 | BeFree |
| Blast Phase | 0.000814326 | 3 | 0 | BeFree |
| Idiopathic Hypereosinophilic Syndrome | 0.000814326 | 3 | 0 | BeFree |
| Disseminated eosinophilic collagen disease | 0.000814326 | 3 | 0 | BeFree |
| Chronic eosinophilic leukemia | 0.000814326 | 3 | 0 | BeFree |
| Common acute lymphoblastic leukemia | 0.000814326 | 3 | 0 | BeFree |
| Chronic myeloproliferative disorder | 0.000814326 | 3 | 0 | BeFree |
| Childhood Leukemia | 0.000814326 | 3 | 0 | BeFree |
| Hypereosinophilic syndrome | 0.000814326 | 3 | 0 | BeFree |
| Aplastic Anemia | 0.000542884 | 2 | 0 | BeFree |
| Hematological Disease | 0.000542884 | 2 | 0 | BeFree |
| Leukemia, T-Cell | 0.000542884 | 2 | 0 | BeFree |
| Lymphoma | 0.000542884 | 2 | 0 | BeFree |
| Mixed Salivary Gland Tumor | 0.000542884 | 2 | 0 | BeFree |
| Myelofibrosis | 0.000542884 | 2 | 0 | BeFree |
| Trisomy | 0.000542884 | 2 | 0 | BeFree |
| B-Cell Lymphomas | 0.000542884 | 2 | 0 | BeFree |
| T-cell childhood acute lymphoblastic leukemia | 0.000542884 | 2 | 0 | BeFree |
| Solid tumour | 0.000542884 | 2 | 0 | BeFree |
| secondary acute myeloid leukemia | 0.000542884 | 2 | 0 | BeFree |
| Acute myeloid leukemia, minimal differentiation | 0.000542884 | 2 | 0 | BeFree |
| Hypereosinophilia | 0.000542884 | 2 | 0 | BeFree |
| Invasive breast carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Sarcoma | 0.000542884 | 2 | 0 | BeFree |
| Mesoblastic nephroma, cellular | 0.000542884 | 2 | 0 | BeFree |
| Meningioma, benign, no ICD-O subtype | 0.000542884 | 2 | 0 | BeFree |
| Myeloid neoplasm | 0.000542884 | 2 | 0 | BeFree |
| Anemia | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of thyroid | 0.000271442 | 1 | 0 | BeFree |
| Cystadenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Exanthema | 0.000271442 | 1 | 0 | BeFree |
| Language Disorders | 0.000271442 | 1 | 0 | BeFree |
| Acute biphenotypic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Acute Promyelocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Lymphoproliferative Disorders | 0.000271442 | 1 | 0 | BeFree |
| Myelodysplasia | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Pancytopenia | 0.000271442 | 1 | 0 | BeFree |
| Diffuse Large B-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
| Macrocytosis | 0.000271442 | 1 | 0 | BeFree |
| Monocytosis | 0.000271442 | 1 | 0 | BeFree |
| Ataxia, Spinocerebellar | 0.000271442 | 1 | 0 | BeFree |
| Van der Woude syndrome | 0.000271442 | 1 | 0 | BeFree |
| Sarcoma, Spindle Cell | 0.000271442 | 1 | 0 | BeFree |
| Rhabdomyosarcoma, Embryonal | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of salivary gland | 0.000271442 | 1 | 0 | BeFree |
| Anemia, severe | 0.000271442 | 1 | 0 | BeFree |
| Fibrosis, Liver | 0.000271442 | 1 | 0 | BeFree |
| Dyskeratosis Congenita | 0.000271442 | 1 | 0 | BeFree |
| recurrent childhood acute lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Philadelphia chromosome positive chronic myelogenous leukemia | 0.000271442 | 1 | 0 | BeFree |
| Primary central nervous system lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Rhabdomyosarcoma with ganglionic differentiation | 0.000271442 | 1 | 0 | BeFree |
| Trisomy 11 | 0.000271442 | 1 | 0 | BeFree |
| Chromosome 8, trisomy | 0.000271442 | 1 | 0 | BeFree |
| Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
| Spots on skin | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
| Ductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cystic hypersecretory carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Chronic leukemia (category) | 0.000271442 | 1 | 0 | BeFree |
| Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Cardiomyopathy, Familial Idiopathic | 0.000271442 | 1 | 0 | BeFree |
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