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The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
[中文简述(自动翻译):]  由该基因编码的蛋白质是组蛋白甲基该甲基化组蛋白H3的赖氨酸4的位置。所编码的蛋白质是称为ASCOM一个大的蛋白质复合物,这已被证明是对β球蛋白和雌激素受体基因的转录调节的一部分。在这种基因突变已证明是歌舞伎综合症的原因。 [由RefSeq的,2010年10月提供]
KMT2D基因(以及对应的蛋白质)的细胞分布位置:
KMT2D基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Kabuki make-up syndrome | 0.489424521 | 26 | 114 | BeFree_CLINVAR_CTD_human_GAD_ORPHANET_UNIPROT |
| Diffuse Large B-Cell Lymphoma | 0.121085767 | 4 | 0 | BeFree_CTD_human |
| Lymphoma, Follicular | 0.120814326 | 4 | 0 | BeFree_CTD_human |
| Phyllodes Tumor | 0.12 | 1 | 0 | CTD_human |
| Male infertility | 0.12 | 1 | 0 | CTD_human |
| Sezary Syndrome | 0.12 | 1 | 0 | CTD_human |
| Squamous cell carcinoma of esophagus | 0.12 | 1 | 0 | CTD_human |
| Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Liver carcinoma | 0.002714419 | 10 | 0 | BeFree |
| Multiple Myeloma | 0.002171535 | 8 | 0 | BeFree |
| Leukemogenesis | 0.001357209 | 5 | 0 | BeFree |
| Congenital Abnormality | 0.001085767 | 4 | 0 | BeFree |
| Lymphoma | 0.001085767 | 4 | 0 | BeFree |
| Solid tumour | 0.001085767 | 4 | 0 | BeFree |
| Carcinogenesis | 0.001085767 | 4 | 0 | BeFree |
| Diabetic Retinopathy | 0.000814326 | 3 | 0 | BeFree |
| Hepatitis B | 0.000814326 | 3 | 0 | BeFree |
| B-Cell Lymphomas | 0.000814326 | 3 | 0 | BeFree |
| Colon Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Liver regeneration disorder | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
| Diabetes Mellitus | 0.000542884 | 2 | 0 | BeFree |
| Dwarfism | 0.000542884 | 2 | 0 | BeFree |
| Mental Retardation | 0.000542884 | 2 | 0 | BeFree |
| Congenital anomaly of the kidney | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Congenital malformation syndrome | 0.000542884 | 2 | 0 | BeFree |
| Nonproliferative diabetic retinopathy | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cerebellar Ataxia | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cutis Laxa | 0.000271442 | 1 | 0 | BeFree |
| Diabetes | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus, Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
| Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
| Sensorineural Hearing Loss (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Immunologic Deficiency Syndromes | 0.000271442 | 1 | 0 | BeFree |
| Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
| Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
| Peripheral Neuropathy | 0.000271442 | 1 | 0 | BeFree |
| Pleural effusion disorder | 0.000271442 | 1 | 0 | BeFree |
| Proliferative diabetic retinopathy | 0.000271442 | 1 | 0 | BeFree |
| Sarcoma, Spindle Cell | 0.000271442 | 1 | 0 | BeFree |
| Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Panhypopituitarism | 0.000271442 | 1 | 0 | BeFree |
| Conventional (Clear Cell) Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
| Neurodevelopmental Disorders | 0.000271442 | 1 | 0 | BeFree |
| Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Intellectual Disability | 0.000271442 | 1 | 0 | BeFree |
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