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This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的丝氨酸/苏氨酸蛋白激酶家族和TGFB受体亚家族的一个成员。所编码的蛋白质是具有蛋白激酶结构域,形成与另一受体蛋白质的异二聚体复合物,并结合的TGF-β的跨膜蛋白。该受体/配体复合物磷酸化的蛋白质,然后进入细胞核,并调节与细胞增殖的基因的一个子集的转录。在这个基因的突变已与马凡综合征,Loeys-德茨主动脉瘤综合征,以及各种类型的肿瘤的发展有关。编码不同同种型的可变剪接转录物变体已被表征。 [由RefSeq的,2008年7月提供]
TGFBR2基因(以及对应的蛋白质)的细胞分布位置:
TGFBR2基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Aortic aneurysm, familial thoracic 3 | 0.32 | 9 | 2 | CTD_human_MGD_UNIPROT |
| Marfan Syndrome | 0.260236045 | 27 | 1 | BeFree_CLINVAR_CTD_human_GAD_LHGDN |
| Loeys-Dietz Syndrome | 0.250314791 | 40 | 11 | BeFree_CLINVAR_CTD_human |
| COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 | 0.24 | 1 | 3 | CLINVAR_UNIPROT |
| Liver Cirrhosis, Experimental | 0.2 | 2 | 0 | CTD_human_RGD |
| Aortic Aneurysm, Thoracic | 0.133268314 | 16 | 0 | BeFree_CTD_human_GAD |
| Aortic Aneurysm | 0.126720033 | 9 | 1 | BeFree_CTD_human_GAD_LHGDN |
| Malignant neoplasm of breast | 0.126167218 | 16 | 1 | BeFree_GAD_GWASCAT |
| Neoplasm Metastasis | 0.125981653 | 14 | 0 | BeFree_CTD_human_LHGDN |
| Colonic Neoplasms | 0.1254487 | 3 | 0 | CTD_human_LHGDN |
| Hereditary Nonpolyposis Colorectal Neoplasms | 0.1254487 | 3 | 0 | CTD_human_LHGDN |
| Prostatic Neoplasms | 0.1254487 | 3 | 0 | CTD_human_LHGDN |
| Aneurysm, Dissecting | 0.125005506 | 5 | 0 | BeFree_CTD_human_GAD |
| Esophageal Neoplasms | 0.124734064 | 3 | 0 | CTD_human_GAD |
| Diabetic Nephropathy | 0.122995792 | 2 | 0 | BeFree_CTD_human_LHGDN |
| Hereditary Nonpolyposis Colorectal Cancer | 0.122171535 | 8 | 0 | BeFree_ORPHANET |
| Marfan Syndrome type 2 | 0.121357209 | 5 | 0 | BeFree_ORPHANET |
| Congenital aneurysm of ascending aorta | 0.120814326 | 3 | 1 | BeFree_CLINVAR |
| Migraine Disorders | 0.120271442 | 2 | 2 | BeFree_CTD_human |
| Esophageal carcinoma | 0.120271442 | 1 | 0 | BeFree_UNIPROT |
| Bone Diseases | 0.12 | 1 | 0 | CTD_human |
| Bone neoplasms | 0.12 | 1 | 0 | CTD_human |
| Eye Abnormalities | 0.12 | 1 | 0 | CTD_human |
| Fatigue | 0.12 | 1 | 0 | CTD_human |
| Hernia, Inguinal | 0.12 | 1 | 0 | CTD_human |
| Lung Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Craniofacial Abnormalities | 0.12 | 2 | 0 | CTD_human |
| Malignant neoplasm of esophagus | 0.12 | 0 | 1 | CLINVAR |
| Microsatellite Instability | 0.12 | 2 | 0 | CTD_human |
| LOEYS-DIETZ SYNDROME, TYPE 1B | 0.12 | 0 | 18 | CLINVAR |
| Malignant neoplasm of prostate | 0.082171535 | 8 | 0 | BeFree_MGD |
| Liver carcinoma | 0.080814326 | 4 | 0 | BeFree_RGD |
| Pulmonary Fibrosis | 0.080271442 | 2 | 0 | BeFree_RGD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.08 | 1 | 0 | RGD |
| DiGeorge Syndrome | 0.08 | 0 | 0 | MGD |
| Glomerulonephritis, Membranoproliferative | 0.08 | 1 | 0 | RGD |
| Hyperplasia | 0.08 | 1 | 0 | RGD |
| Pulmonary Hypertension | 0.08 | 1 | 0 | RGD |
| Kidney Diseases | 0.08 | 1 | 0 | RGD |
| Myocardial Infarction | 0.08 | 1 | 0 | RGD |
| Reperfusion Injury | 0.08 | 1 | 0 | RGD |
| Cholangiocarcinoma | 0.08 | 1 | 0 | RGD |
| Cleft Soft Palate | 0.08 | 0 | 0 | MGD |
| Arthritis, Experimental | 0.08 | 1 | 0 | RGD |
| Malignant neoplasm of stomach | 0.012996872 | 16 | 0 | BeFree_GAD |
| Squamous cell carcinoma | 0.011897292 | 8 | 0 | BeFree_GAD_LHGDN |
| Colorectal Cancer | 0.010705785 | 23 | 0 | BeFree_GAD |
| Aortic Aneurysm, Abdominal | 0.00973957 | 5 | 0 | BeFree_GAD |
| Mammary Neoplasms | 0.00953026 | 7 | 0 | BeFree_LHGDN |
| Colorectal Neoplasms | 0.008358616 | 5 | 0 | BeFree_GAD_LHGDN |
| Malignant tumor of colon | 0.00643866 | 16 | 0 | BeFree_GAD |
| Carcinogenesis | 0.006243163 | 23 | 0 | BeFree |
| Renal Cell Carcinoma | 0.005991584 | 3 | 0 | BeFree_LHGDN |
| Schizophrenia | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
| Vitiligo | 0.005005506 | 2 | 0 | BeFree_GAD |
| Colorectal Carcinoma | 0.004885954 | 18 | 0 | BeFree |
| Pancreatic Neoplasm | 0.004734064 | 1 | 1 | GAD |
| Adenocarcinoma | 0.004353001 | 7 | 0 | BeFree_LHGDN |
| Breast Carcinoma | 0.004071628 | 15 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.003724241 | 6 | 0 | BeFree_GAD |
| Stomach Carcinoma | 0.003528744 | 13 | 0 | BeFree |
| Hypertensive disease | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Systemic Scleroderma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Degenerative polyarthritis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Vascular Diseases | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Adrenocortical carcinoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Carcinoma, Giant Cell | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Carcinoma, Large Cell | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Adenoma | 0.002909916 | 3 | 0 | BeFree_GAD |
| Asthma | 0.002909916 | 2 | 0 | BeFree_GAD |
| Congenital Heart Defects | 0.002909916 | 2 | 0 | BeFree_GAD |
| Anoxia | 0.00272435 | 1 | 0 | LHGDN |
| Basal cell carcinoma | 0.00272435 | 1 | 0 | LHGDN |
| Eisenmenger Complex | 0.00272435 | 1 | 0 | LHGDN |
| Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
| Biliary cirrhosis | 0.00272435 | 1 | 0 | LHGDN |
| Lymphoma, Non-Hodgkin | 0.00272435 | 1 | 0 | LHGDN |
| Stomach Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Tuberculosis | 0.00272435 | 1 | 0 | LHGDN |
| B-Cell Lymphomas | 0.00272435 | 1 | 0 | LHGDN |
| Foot Ulcer | 0.00272435 | 1 | 0 | LHGDN |
| Congenital musculoskeletal anomalies | 0.00272435 | 1 | 0 | LHGDN |
| Diabetic Foot | 0.00272435 | 1 | 0 | LHGDN |
| Autoimmune Diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
| Intracranial Aneurysm | 0.002638474 | 2 | 0 | BeFree_GAD |
| Cleft Palate | 0.002638474 | 2 | 0 | BeFree_GAD |
| Colon Carcinoma | 0.002442977 | 9 | 0 | BeFree |
| Aortic Rupture | 0.002367032 | 1 | 0 | GAD |
| Pathological Dilatation | 0.002367032 | 1 | 0 | GAD |
| Head and Neck Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Kidney Failure, Chronic | 0.002367032 | 1 | 0 | GAD |
| Laryngeal neoplasm | 0.002367032 | 1 | 0 | GAD |
| Liver Cirrhosis | 0.002367032 | 1 | 0 | GAD |
| Lupus Erythematosus, Systemic | 0.002367032 | 1 | 0 | GAD |
| Meningioma | 0.002367032 | 1 | 0 | GAD |
| Mouth Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Pharyngeal Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Cerebrovascular accident | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Gilles de la Tourette syndrome | 0.002367032 | 1 | 0 | GAD |
| Juvenile polyposis syndrome | 0.002367032 | 1 | 0 | GAD |
| Hepatitis C, Chronic | 0.002367032 | 1 | 0 | GAD |
| Blood pressure finding | 0.002367032 | 1 | 1 | GAD |
| Systemic arterial pressure | 0.002367032 | 1 | 1 | GAD |
| Adenoma of large intestine | 0.002367032 | 1 | 0 | GAD |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.002367032 | 1 | 0 | GAD |
| Pancreatic carcinoma | 0.001900093 | 7 | 2 | BeFree |
| Malignant neoplasm of pancreas | 0.001900093 | 7 | 2 | BeFree |
| Prostate carcinoma | 0.001900093 | 7 | 0 | BeFree |
| Malignant neoplasm of lung | 0.001628651 | 6 | 0 | BeFree |
| Aneurysm | 0.001357209 | 5 | 0 | BeFree |
| Connective Tissue Diseases | 0.001357209 | 5 | 0 | BeFree |
| Ovarian Carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Tumor Progression | 0.001357209 | 5 | 0 | BeFree |
| Endometrial Carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Carcinoma of lung | 0.001357209 | 5 | 0 | BeFree |
| Adenocarcinoma of lung (disorder) | 0.001085767 | 4 | 0 | BeFree |
| Squamous cell carcinoma of the head and neck | 0.001085767 | 4 | 0 | BeFree |
| Hepatocarcinogenesis | 0.001085767 | 4 | 0 | BeFree |
| Bicuspid aortic valve | 0.000814326 | 3 | 0 | BeFree |
| Oral Cavity Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Idiopathic pulmonary hypertension | 0.000814326 | 3 | 0 | BeFree |
| Lip and Oral Cavity Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Dilatation of aorta | 0.000814326 | 3 | 0 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.000814326 | 3 | 0 | BeFree |
| ovarian neoplasm | 0.000814326 | 3 | 0 | BeFree |
| Pancreatic Ductal Adenocarcinoma | 0.000814326 | 3 | 0 | BeFree |
| Loeys-Dietz Aortic Aneurysm Syndrome | 0.000814326 | 3 | 0 | BeFree |
| AORTIC VALVE DISEASE 2 | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of endometrium | 0.000542884 | 2 | 0 | BeFree |
| Ulcerative Colitis | 0.000542884 | 2 | 0 | BeFree |
| Scleroderma | 0.000542884 | 2 | 0 | BeFree |
| Patent ductus arteriosus | 0.000542884 | 2 | 0 | BeFree |
| Ehlers-Danlos Syndrome | 0.000542884 | 2 | 0 | BeFree |
| Intestinal Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| melanoma | 0.000542884 | 2 | 0 | BeFree |
| Giant Cell Arteritis | 0.000542884 | 2 | 0 | BeFree |
| Squamous cell carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of mouth | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of gallbladder | 0.000542884 | 2 | 0 | BeFree |
| Congenital contractural arachnodactyly | 0.000542884 | 2 | 0 | BeFree |
| Squamous cell carcinoma of esophagus | 0.000542884 | 2 | 0 | BeFree |
| Dissection of aorta | 0.000542884 | 2 | 0 | BeFree |
| Breast adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
| Shprintzen-Goldberg syndrome | 0.000542884 | 2 | 0 | BeFree |
| Gastric Cardia Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
| Tumor Angiogenesis | 0.000542884 | 2 | 0 | BeFree |
| Uterine Corpus Cancer | 0.000542884 | 2 | 0 | BeFree |
| Pulmonary arterial hypertension | 0.000542884 | 2 | 0 | BeFree |
| Idiopathic pulmonary arterial hypertension | 0.000542884 | 2 | 0 | BeFree |
| Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 0.000542884 | 2 | 0 | BeFree |
| Experimental Organism Basal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Primary Myelofibrosis | 0.000271442 | 1 | 0 | BeFree |
| Bacterial Infections | 0.000271442 | 1 | 0 | BeFree |
| Cardiovascular Diseases | 0.000271442 | 1 | 0 | BeFree |
| Cerebral Infarction | 0.000271442 | 1 | 0 | BeFree |
| Colitis | 0.000271442 | 1 | 0 | BeFree |
| Coronary Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
| Coronary heart disease | 0.000271442 | 1 | 0 | BeFree |
| Dry Eye Syndromes | 0.000271442 | 1 | 0 | BeFree |
| Muscular Dystrophy, Duchenne | 0.000271442 | 1 | 0 | BeFree |
| Gastrointestinal Diseases | 0.000271442 | 1 | 0 | BeFree |
| Glioma | 0.000271442 | 1 | 0 | BeFree |
| Cardiac Arrest | 0.000271442 | 1 | 0 | BeFree |
| Immunologic Deficiency Syndromes | 0.000271442 | 1 | 0 | BeFree |
| Leprosy | 0.000271442 | 1 | 8 | BeFree |
| Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
| Mitral Valve Prolapse Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Muscular Dystrophy | 0.000271442 | 1 | 0 | BeFree |
| Nephritis | 0.000271442 | 1 | 0 | BeFree |
| Melanocytic nevus | 0.000271442 | 1 | 0 | BeFree |
| Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Kaposi Sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Thyroid Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Varicose Ulcer | 0.000271442 | 1 | 0 | BeFree |
| Essential Hypertension | 0.000271442 | 1 | 0 | BeFree |
| Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of skin | 0.000271442 | 1 | 0 | BeFree |
| Cicatrix, Hypertrophic | 0.000271442 | 1 | 0 | BeFree |
| Larsen syndrome | 0.000271442 | 1 | 0 | BeFree |
| Adenosquamous carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Alveolar rhabdomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Gallbladder Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Fibrosis, Liver | 0.000271442 | 1 | 0 | BeFree |
| Schinzel-Giedion syndrome | 0.000271442 | 1 | 0 | BeFree |
| Marfanoid hypermobility syndrome | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma breast stage IV | 0.000271442 | 1 | 0 | BeFree |
| Dryness of eye | 0.000271442 | 1 | 0 | BeFree |
| Eccrine spiradenoma | 0.000271442 | 1 | 0 | BeFree |
| Familial mitral valve prolapse | 0.000271442 | 1 | 0 | BeFree |
| Milium Cyst | 0.000271442 | 1 | 0 | BeFree |
| Breast Cancer, Familial | 0.000271442 | 1 | 1 | BeFree |
| Hereditary gingival fibromatosis | 0.000271442 | 1 | 0 | BeFree |
| Intracranial Hypotension | 0.000271442 | 1 | 0 | BeFree |
| Ewings sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Proximal aortic dissection | 0.000271442 | 1 | 0 | BeFree |
| Biliary Tract Cancer | 0.000271442 | 1 | 0 | BeFree |
| Adenomatous polyp of colon | 0.000271442 | 1 | 0 | BeFree |
| Invasive breast carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cerebral Ischemia | 0.000271442 | 1 | 0 | BeFree |
| Invasive Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Multi-centric Castleman's Disease | 0.000271442 | 1 | 0 | BeFree |
| Sporadic Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Non-Malignant Ascites Adverse Event | 0.000271442 | 1 | 0 | BeFree |
| Coronary Artery Disease | 0.000271442 | 1 | 0 | BeFree |
| Allergic rhinitis (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Marfan Syndrome Type II | 0.000271442 | 1 | 0 | BeFree |
| Allergic disposition | 0.000271442 | 1 | 0 | BeFree |
| Fibromyxosarcoma | 0.000271442 | 1 | 0 | BeFree |
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