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A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  染色体22和9之间的相互易位产生费城染色体,这往往是在慢性粒细胞性白血病中发现。对于这种易位染色体断点22位于BCR基因内。易位产生被序列从两个BCR和ABL,在9号染色体断点的基因所编码的融合蛋白。虽然BCR-ABL融合蛋白已被广泛研究,正常bcr基因产物的功能尚不清楚。该蛋白质具有丝氨酸/苏氨酸激酶活性,并且是p21rac GTP酶激活蛋白。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2008年7月提供]
BCR基因(以及对应的蛋白质)的细胞分布位置:
BCR基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Myeloid Leukemia, Chronic | 0.39556717 | 514 | 3 | BeFree_CTD_human_GAD_LHGDN_ORPHANET |
| Blast Phase | 0.144158327 | 89 | 2 | BeFree_CTD_human |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.140649445 | 58 | 0 | BeFree_CTD_human_LHGDN |
| Myeloproliferative disease | 0.128153188 | 21 | 2 | BeFree_CTD_human_LHGDN |
| Necrosis | 0.12 | 1 | 0 | CTD_human |
| Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
| Chromosome 22q11.2 Deletion Syndrome, Distal | 0.12 | 0 | 0 | ORPHANET |
| LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 | 0.12 | 0 | 0 | ORPHANET |
| leukemia | 0.051753097 | 121 | 1 | BeFree_GAD_LHGDN |
| Leukemia, Myelocytic, Acute | 0.027978376 | 85 | 0 | BeFree_LHGDN |
| Acute lymphocytic leukemia | 0.022801117 | 84 | 0 | BeFree |
| Colorectal Cancer | 0.014745076 | 8 | 0 | BeFree_GAD |
| Thyroid carcinoma | 0.014202192 | 6 | 0 | GAD |
| Acute leukemia | 0.010586233 | 39 | 0 | BeFree |
| Chronic Lymphocytic Leukemia | 0.009771907 | 36 | 0 | BeFree |
| Malignant neoplasm of lung | 0.007372538 | 4 | 0 | BeFree_GAD |
| Congenital chromosomal disease | 0.007328931 | 27 | 0 | BeFree |
| Philadelphia chromosome positive | 0.007057489 | 26 | 1 | BeFree |
| Philadelphia chromosome-positive acute lymphoblastic leukemia | 0.005971721 | 22 | 0 | BeFree |
| Neoplasm, Residual | 0.005428837 | 20 | 0 | BeFree |
| Philadelphia chromosome positive chronic myelogenous leukemia | 0.005428837 | 20 | 0 | BeFree |
| Precursor B-cell lymphoblastic leukemia | 0.005428837 | 20 | 0 | BeFree |
| Chronic myeloproliferative disorder | 0.005428837 | 20 | 2 | BeFree |
| Thrombocythemia, Essential | 0.005167327 | 10 | 4 | BeFree_LHGDN |
| melanoma | 0.005005506 | 3 | 0 | BeFree_GAD |
| Skin carcinoma | 0.004734064 | 2 | 0 | GAD |
| Myeloid Leukemia | 0.004353001 | 7 | 0 | BeFree_LHGDN |
| Acute Promyelocytic Leukemia | 0.00434307 | 16 | 0 | BeFree |
| Lymphoma | 0.004071628 | 15 | 0 | BeFree |
| Polycythemia Vera | 0.003810118 | 5 | 4 | BeFree_LHGDN |
| Primary Myelofibrosis | 0.003528744 | 13 | 2 | BeFree |
| Meningioma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Leukemia, Myeloid, Chronic-Phase | 0.003257302 | 12 | 0 | BeFree |
| Leukemia, Myelomonocytic, Chronic | 0.003257302 | 12 | 0 | BeFree |
| Colorectal Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Bipolar Disorder | 0.002909916 | 2 | 0 | BeFree_GAD |
| Polycythemia | 0.00272435 | 1 | 0 | LHGDN |
| Sezary Syndrome | 0.00272435 | 1 | 0 | LHGDN |
| Major Depressive Disorder | 0.002638474 | 1 | 0 | BeFree_GAD |
| Philadelphia chromosome negative chronic myelogenous leukemia | 0.002442977 | 9 | 0 | BeFree |
| Leukemogenesis | 0.002442977 | 9 | 0 | BeFree |
| Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
| Endometriosis | 0.002367032 | 1 | 0 | GAD |
| Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Chromosome Breakage | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of ovary | 0.002367032 | 1 | 0 | GAD |
| Lymphoma, Follicular | 0.002171535 | 8 | 0 | BeFree |
| MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0.002171535 | 8 | 0 | BeFree |
| Hematologic Neoplasms | 0.001900093 | 7 | 0 | BeFree |
| Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | 0.001900093 | 7 | 0 | BeFree |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.001900093 | 7 | 0 | BeFree |
| Lymphoid leukemia | 0.001628651 | 6 | 0 | BeFree |
| Leukemia, Lymphocytic, Acute, L1 | 0.001628651 | 6 | 0 | BeFree |
| Juvenile Myelomonocytic Leukemia | 0.001628651 | 6 | 0 | BeFree |
| Adult Acute Lymphocytic Leukemia | 0.001628651 | 6 | 0 | BeFree |
| Hematological Disease | 0.001357209 | 5 | 0 | BeFree |
| Multiple Myeloma | 0.001357209 | 5 | 0 | BeFree |
| Myelofibrosis | 0.001357209 | 5 | 0 | BeFree |
| B-Cell Lymphomas | 0.001357209 | 5 | 0 | BeFree |
| Hematopoietic Neoplasms | 0.001357209 | 5 | 0 | BeFree |
| Chronic leukemia (category) | 0.001357209 | 5 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.001085767 | 4 | 0 | BeFree |
| Monosomy | 0.001085767 | 4 | 0 | BeFree |
| Nephroblastoma | 0.001085767 | 4 | 0 | BeFree |
| Carcinogenesis | 0.001085767 | 4 | 0 | BeFree |
| Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement | 0.001085767 | 4 | 0 | BeFree |
| Eosinophilia | 0.000814326 | 3 | 0 | BeFree |
| Chronic Neutrophilic Leukemia | 0.000814326 | 3 | 0 | BeFree |
| Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 0.000814326 | 3 | 0 | BeFree |
| Leukemia, T-Cell | 0.000814326 | 3 | 0 | BeFree |
| Adult T-Cell Lymphoma/Leukemia | 0.000814326 | 3 | 0 | BeFree |
| Stereotypic Movement Disorder | 0.000814326 | 3 | 0 | BeFree |
| Uterine Fibroids | 0.000814326 | 3 | 0 | BeFree |
| Monocytosis | 0.000814326 | 3 | 0 | BeFree |
| Isochromosomes | 0.000814326 | 3 | 0 | BeFree |
| Solid tumour | 0.000814326 | 3 | 0 | BeFree |
| Chromosome 8, trisomy | 0.000814326 | 3 | 0 | BeFree |
| Thrombocytosis | 0.000814326 | 3 | 0 | BeFree |
| Eosinophilic disorder | 0.000814326 | 3 | 0 | BeFree |
| Disorder characterized by eosinophilia | 0.000814326 | 3 | 0 | BeFree |
| CAMPOMELIC DYSPLASIA | 0.000814326 | 3 | 0 | BeFree |
| Promyelocytic leukemia | 0.000814326 | 3 | 0 | BeFree |
| Mixed phenotype acute leukemia | 0.000814326 | 3 | 0 | BeFree |
| Agammaglobulinemia | 0.000542884 | 2 | 0 | BeFree |
| Anemia | 0.000542884 | 2 | 0 | BeFree |
| Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Common Variable Immunodeficiency | 0.000542884 | 2 | 0 | BeFree |
| Hairy Cell Leukemia | 0.000542884 | 2 | 0 | BeFree |
| Leukemia, Myeloid, Accelerated Phase | 0.000542884 | 2 | 0 | BeFree |
| Leukemia, Radiation-Induced | 0.000542884 | 2 | 0 | BeFree |
| Medulloblastoma | 0.000542884 | 2 | 0 | BeFree |
| Pancytopenia | 0.000542884 | 2 | 0 | BeFree |
| Rhabdoid Tumor | 0.000542884 | 2 | 0 | BeFree |
| Gastrointestinal Stromal Tumors | 0.000542884 | 2 | 0 | BeFree |
| Miller Dieker syndrome | 0.000542884 | 2 | 0 | BeFree |
| B-cell adult acute lymphoblastic leukemia | 0.000542884 | 2 | 0 | BeFree |
| Acute Undifferentiated Leukemia | 0.000542884 | 2 | 0 | BeFree |
| Pre B-cell acute lymphoblastic leukemia | 0.000542884 | 2 | 1 | BeFree |
| High grade T-cell lymphoma | 0.000542884 | 2 | 0 | BeFree |
| Refractory cancer | 0.000542884 | 2 | 0 | BeFree |
| Therapy-related myelodysplastic syndrome | 0.000542884 | 2 | 0 | BeFree |
| Treatment related acute myeloid leukaemia | 0.000542884 | 2 | 0 | BeFree |
| Undifferentiated leukemia | 0.000542884 | 2 | 0 | BeFree |
| B Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 | 0.000542884 | 2 | 0 | BeFree |
| Amyloidosis | 0.000271442 | 1 | 0 | BeFree |
| Refractory anaemia with excess blasts | 0.000271442 | 1 | 0 | BeFree |
| Aniridia | 0.000271442 | 1 | 0 | BeFree |
| Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
| Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
| Cardiovascular Diseases | 0.000271442 | 1 | 0 | BeFree |
| Diabetic Angiopathies | 0.000271442 | 1 | 0 | BeFree |
| DiGeorge Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Fanconi Anemia | 0.000271442 | 1 | 0 | BeFree |
| Fatty Liver | 0.000271442 | 1 | 0 | BeFree |
| Fragile X Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Hodgkin Disease | 0.000271442 | 1 | 0 | BeFree |
| Inflammatory Bowel Diseases | 0.000271442 | 1 | 0 | BeFree |
| Fibroid Tumor | 0.000271442 | 1 | 0 | BeFree |
| Acute Erythroblastic Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Acute Megakaryocytic Leukemias | 0.000271442 | 1 | 0 | BeFree |
| Prolymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Leukoencephalopathy, Progressive Multifocal | 0.000271442 | 1 | 0 | BeFree |
| Liver Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
| Lupus Vulgaris | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus, Discoid | 0.000271442 | 1 | 0 | BeFree |
| Paroxysmal nocturnal hemoglobinuria | 0.000271442 | 1 | 0 | BeFree |
| Mixed Salivary Gland Tumor | 0.000271442 | 1 | 0 | BeFree |
| Multiple Sclerosis | 0.000271442 | 1 | 0 | BeFree |
| Myelodysplasia | 0.000271442 | 1 | 0 | BeFree |
| Myeloid Metaplasia | 0.000271442 | 1 | 0 | BeFree |
| Neurofibromatosis 2 | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Pleural effusion disorder | 0.000271442 | 1 | 0 | BeFree |
| Preleukemia | 0.000271442 | 1 | 0 | BeFree |
| Pure Red-Cell Aplasia | 0.000271442 | 1 | 0 | BeFree |
| Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Kaposi Sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Schistosomiasis | 0.000271442 | 1 | 0 | BeFree |
| Skin lesion | 0.000271442 | 1 | 0 | BeFree |
| Spinal Cord Diseases | 0.000271442 | 1 | 0 | BeFree |
| Trisomy | 0.000271442 | 1 | 0 | BeFree |
| Unipolar Depression | 0.000271442 | 1 | 0 | BeFree |
| Immunoblastic Large-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Precursor cell lymphoblastic lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
| Bone pain | 0.000271442 | 1 | 0 | BeFree |
| Granulocytic Sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Eosinophilic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Neuroectodermal Tumor, Primitive | 0.000271442 | 1 | 0 | BeFree |
| Adult Acute Myeloblastic Leukemia | 0.000271442 | 1 | 0 | BeFree |
| pediatric acute myeloblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Virchow's node (disorder) | 0.000271442 | 1 | 0 | BeFree |
| recurrent adult acute lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
| relapsing chronic myelogenous leukemia | 0.000271442 | 1 | 0 | BeFree |
| secondary acute myeloid leukemia | 0.000271442 | 1 | 0 | BeFree |
| Primary central nervous system lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 0.000271442 | 1 | 0 | BeFree |
| Chronic eosinophilic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Non-alcoholic Fatty Liver Disease | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus | 0.000271442 | 1 | 0 | BeFree |
| Blast cell proliferation | 0.000271442 | 1 | 0 | BeFree |
| Ewings sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Progressive Neoplastic Disease | 0.000271442 | 1 | 0 | BeFree |
| Terminal illness | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Rhabdoid Tumor of the Kidney | 0.000271442 | 1 | 0 | BeFree |
| Autosomal recessive agammaglobulinemia | 0.000271442 | 1 | 0 | BeFree |
| Chronic graft-versus-host disease | 0.000271442 | 1 | 0 | BeFree |
| ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Non-Hematologic Malignancy | 0.000271442 | 1 | 0 | BeFree |
| Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
| HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
| Myeloid neoplasm | 0.000271442 | 1 | 0 | BeFree |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Progressive cGVHD | 0.000271442 | 1 | 0 | BeFree |
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