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The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
[中文简述(自动翻译):]  由该基因编码的蛋白质属于SMAD,一个家庭类似于果蝇基因的母亲对decapentaplegic‘(MAD)的基因产物的蛋白质和线虫基因的Sma。 SMAD蛋白是信号转导和介导多种信号传导途径的转录调节剂。该蛋白介导的转化生长因子(TGF)-beta的信号,从而调节多种细胞过程,如细胞增殖,凋亡和分化。该蛋白质是通过其与SMAD锚受体激活(SARA)蛋白质相互作用募集到的TGF-β受体。响应于TGF-β的信号,这种蛋白是由TGF-β受体磷酸化。磷酸化诱导该蛋白与SARA和家人SMAD4协会的分离。与SMAD4的关联是此蛋白质易位至细胞核,在那里它结合到靶启动子,并形成与其他辅因子转录阻遏复杂重要。该蛋白质也可以通过激活素1型受体激酶磷酸化,并介导从激活的信号。可变剪接转录物变体已经观察到这种基因。 [由RefSeq的,2012年5月提供]
SMAD2基因(以及对应的蛋白质)的细胞分布位置:
SMAD2基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hepatitis, Chronic | 0.12 | 1 | 0 | CTD_human |
| Liver Cirrhosis, Experimental | 0.12 | 1 | 0 | CTD_human |
| Acromicric Dysplasia | 0.12 | 1 | 0 | CTD_human |
| Craniofacial Abnormalities | 0.12 | 2 | 0 | CTD_human |
| Ventricular Remodeling | 0.12 | 1 | 0 | CTD_human |
| Copper-Overload Cirrhosis | 0.12 | 1 | 0 | CTD_human |
| Colorectal Cancer | 0.009077134 | 18 | 0 | BeFree_GAD |
| Squamous cell carcinoma | 0.007348794 | 9 | 0 | BeFree_LHGDN |
| Liver carcinoma | 0.005981653 | 13 | 0 | BeFree_LHGDN |
| Asthma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Mammary Neoplasms | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Colorectal Carcinoma | 0.002985861 | 11 | 0 | BeFree |
| Malignant neoplasm of lung | 0.002985861 | 11 | 0 | BeFree |
| Carcinogenesis | 0.002985861 | 11 | 0 | BeFree |
| Dermatitis, Atopic | 0.00272435 | 1 | 0 | LHGDN |
| Glioma | 0.00272435 | 1 | 0 | LHGDN |
| Multiple Myeloma | 0.00272435 | 1 | 0 | LHGDN |
| Disease Progression | 0.00272435 | 1 | 0 | LHGDN |
| Neoplasm Metastasis | 0.002714419 | 10 | 0 | BeFree |
| Cleft Palate | 0.002367032 | 1 | 0 | GAD |
| Pulmonary Hypertension | 0.002367032 | 1 | 0 | GAD |
| Inflammatory Bowel Diseases | 0.002367032 | 1 | 0 | GAD |
| Liver Cirrhosis | 0.002367032 | 1 | 0 | GAD |
| Pancreatic Neoplasm | 0.002367032 | 1 | 0 | GAD |
| Gilles de la Tourette syndrome | 0.002367032 | 1 | 0 | GAD |
| Juvenile polyposis syndrome | 0.002367032 | 1 | 0 | GAD |
| Hepatopulmonary Syndrome | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of breast | 0.001357209 | 5 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.001357209 | 5 | 0 | BeFree |
| Tumor Progression | 0.001357209 | 5 | 0 | BeFree |
| Breast Carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Carcinoma of lung | 0.001357209 | 5 | 0 | BeFree |
| Stomach Carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Aneurysm | 0.000814326 | 3 | 0 | BeFree |
| Malignant tumor of colon | 0.000814326 | 3 | 0 | BeFree |
| Renal Cell Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Malignant tumor of cervix | 0.000814326 | 3 | 0 | BeFree |
| Glioblastoma | 0.000814326 | 3 | 0 | BeFree |
| Keloid | 0.000814326 | 3 | 0 | BeFree |
| Neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
| Uterine Fibroids | 0.000814326 | 3 | 0 | BeFree |
| Pancreatic carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Cervix carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.000814326 | 3 | 0 | BeFree |
| Central neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
| Idiopathic Pulmonary Fibrosis | 0.000814326 | 3 | 0 | BeFree |
| Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
| Rectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of skin | 0.000542884 | 2 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Diabetes | 0.000542884 | 2 | 0 | BeFree |
| Diabetes Mellitus | 0.000542884 | 2 | 0 | BeFree |
| Fibroid Tumor | 0.000542884 | 2 | 0 | BeFree |
| Chronic Obstructive Airway Disease | 0.000542884 | 2 | 0 | BeFree |
| Myocardial Infarction | 0.000542884 | 2 | 0 | BeFree |
| Degenerative polyarthritis | 0.000542884 | 2 | 0 | BeFree |
| Ovarian Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Systemic Scleroderma | 0.000542884 | 2 | 0 | BeFree |
| Skin Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| Cicatrix, Hypertrophic | 0.000542884 | 2 | 0 | BeFree |
| Squamous cell carcinoma of esophagus | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
| Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Squamous cell carcinoma of the head and neck | 0.000542884 | 2 | 0 | BeFree |
| Adrenal Gland Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
| Bladder Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Uterine Cervical Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Primary biliary cirrhosis | 0.000271442 | 1 | 0 | BeFree |
| Subacute Bacterial Endocarditis | 0.000271442 | 1 | 0 | BeFree |
| Endometriosis | 0.000271442 | 1 | 0 | BeFree |
| Congenital Heart Defects | 0.000271442 | 1 | 0 | BeFree |
| Hemangiosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis C | 0.000271442 | 1 | 0 | BeFree |
| Ischemia | 0.000271442 | 1 | 0 | BeFree |
| Keratoconus | 0.000271442 | 1 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
| Myeloid Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Lichen disease | 0.000271442 | 1 | 0 | BeFree |
| Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Oral Submucous Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Osteoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Pain | 0.000271442 | 1 | 0 | BeFree |
| Pancytopenia | 0.000271442 | 1 | 0 | BeFree |
| Peutz-Jeghers Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Prostatic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Psoriasis | 0.000271442 | 1 | 0 | BeFree |
| Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Sarcoidosis | 0.000271442 | 1 | 0 | BeFree |
| Fibromatosis, Aggressive | 0.000271442 | 1 | 0 | BeFree |
| Holoprosencephaly | 0.000271442 | 1 | 1 | BeFree |
| Gestational Diabetes | 0.000271442 | 1 | 0 | BeFree |
| Obstructive nephropathy | 0.000271442 | 1 | 0 | BeFree |
| Renal fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Congenital heart disease | 0.000271442 | 1 | 0 | BeFree |
| Idiopathic pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Aortic Aneurysm, Thoracic | 0.000271442 | 1 | 0 | BeFree |
| Fibrosis, Liver | 0.000271442 | 1 | 0 | BeFree |
| Schinzel-Giedion syndrome | 0.000271442 | 1 | 0 | BeFree |
| Cyclocephaly | 0.000271442 | 1 | 0 | BeFree |
| Shwachman syndrome | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma breast stage IV | 0.000271442 | 1 | 0 | BeFree |
| Gastric Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Solid tumour | 0.000271442 | 1 | 0 | BeFree |
| Uterine Carcinosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant mesothelioma | 0.000271442 | 1 | 0 | BeFree |
| Disseminated Malignant Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Beta thalassemia intermedia | 0.000271442 | 1 | 0 | BeFree |
| Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Necrotizing Enterocolitis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of esophagus | 0.000271442 | 1 | 0 | BeFree |
| Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
| Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of gastrointestinal tract | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
| Dissecting aneurysm of the thoracic aorta | 0.000271442 | 1 | 0 | BeFree |
| Stromal Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
| Sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
| Hereditary Nonpolyposis Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cardiac fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Posterior capsule opacification | 0.000271442 | 1 | 0 | BeFree |
| Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Skin Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Tumor Angiogenesis | 0.000271442 | 1 | 0 | BeFree |
| Glioblastoma Multiforme | 0.000271442 | 1 | 0 | BeFree |
| Uterine Corpus Carcinosarcoma | 0.000271442 | 1 | 0 | BeFree |
| MYELOID TUMOR SUPPRESSOR | 0.000271442 | 1 | 0 | BeFree |
| Pulmonary arterial hypertension | 0.000271442 | 1 | 0 | BeFree |
| Geleophysic dysplasia | 0.000271442 | 1 | 0 | BeFree |
| Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
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