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This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因是RUNX家族转录因子的成员,编码核蛋白质具有短帧的DNA结合结构域。这种蛋白质是成骨细胞分化和骨形态发生必要和充当核酸和??涉及骨骼肌基因表达调节因子的支架。蛋白质可以结合的DNA既作为单体或者用更亲和力,作为异二聚体复合物的亚单位。在这种基因突变已与骨发育障碍锁骨颅骨发育不良(CCD)相关联。编码不同蛋白同种型的转录变体从使用替代的启动子以及选择性剪接的结果。 [由RefSeq的,2008年7月提供]
RUNX2基因(以及对应的蛋白质)的细胞分布位置:
RUNX2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cleidocranial Dysplasia | 0.606148626 | 84 | 12 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
Osteosarcoma | 0.135501981 | 30 | 0 | BeFree_CTD_human_LHGDN |
Degenerative polyarthritis | 0.121357209 | 6 | 0 | BeFree_CTD_human |
Uremia | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Craniofacial Abnormalities | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Arthritis, Psoriatic | 0.12 | 1 | 0 | CTD_human |
Rheumatoid Arthritis | 0.12 | 1 | 0 | CTD_human |
Tooth Abnormalities | 0.12 | 1 | 0 | CTD_human |
Stomatognathic System Abnormalities | 0.12 | 1 | 0 | CTD_human |
Spondylarthritis | 0.12 | 1 | 0 | CTD_human |
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY | 0.12 | 0 | 1 | CLINVAR |
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly | 0.12 | 0 | 1 | CLINVAR |
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY | 0.12 | 0 | 0 | ORPHANET |
Central Core Myopathy (disorder) | 0.017915164 | 66 | 2 | BeFree |
Osteoporosis | 0.014178448 | 8 | 0 | BeFree_GAD_LHGDN |
Mammary Neoplasms | 0.011168843 | 5 | 0 | BeFree_LHGDN |
Bone Diseases | 0.010801593 | 14 | 0 | BeFree_GAD_LHGDN |
Neoplasm Metastasis | 0.010053281 | 27 | 0 | BeFree_LHGDN |
Osteosarcoma of bone | 0.007328931 | 27 | 0 | BeFree |
Breast Carcinoma | 0.006786047 | 25 | 0 | BeFree |
Malignant neoplasm of breast | 0.006514605 | 24 | 0 | BeFree |
Heterotopic Ossification | 0.005091382 | 2 | 0 | GAD_LHGDN |
Malignant neoplasm of prostate | 0.004071628 | 15 | 0 | BeFree |
Multiple Myeloma | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Prostate carcinoma | 0.003800186 | 14 | 0 | BeFree |
Carcinoma, Papillary | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Prostatic Neoplasms | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Secondary malignant neoplasm of bone | 0.003257302 | 12 | 0 | BeFree |
Chondrosarcoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Cleft Lip | 0.002909916 | 3 | 0 | BeFree_GAD |
Anoxia | 0.00272435 | 1 | 0 | LHGDN |
Chondroma | 0.00272435 | 1 | 0 | LHGDN |
Carcinoma breast stage IV | 0.002714419 | 10 | 0 | BeFree |
Cleft Palate | 0.002638474 | 2 | 0 | BeFree_GAD |
Carcinogenesis | 0.002442977 | 9 | 0 | BeFree |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
Osteoporosis, Postmenopausal | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of occipital lobe | 0.002367032 | 1 | 1 | GAD |
Ossification of Posterior Longitudinal Ligament | 0.002367032 | 1 | 0 | GAD |
Fibrinogen Adverse Event | 0.002367032 | 1 | 1 | GAD |
Leukemia, Myelocytic, Acute | 0.002171535 | 8 | 0 | BeFree |
Tooth, Supernumerary | 0.001900093 | 7 | 1 | BeFree |
Giant Cell Tumor of Bone | 0.001628651 | 6 | 0 | BeFree |
Craniosynostosis | 0.001357209 | 5 | 0 | BeFree |
leukemia | 0.001357209 | 5 | 0 | BeFree |
Disorder of skeletal system | 0.001357209 | 5 | 0 | BeFree |
Colorectal Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Exanthema | 0.001085767 | 4 | 0 | BeFree |
Fibrous Dysplasia | 0.001085767 | 4 | 0 | BeFree |
Colorectal Cancer | 0.001085767 | 4 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Acute Promyelocytic Leukemia | 0.000814326 | 3 | 0 | BeFree |
Malignant hyperpyrexia due to anesthesia | 0.000814326 | 3 | 0 | BeFree |
Nodule | 0.000814326 | 3 | 0 | BeFree |
Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Skeletal dysplasia | 0.000814326 | 3 | 0 | BeFree |
Thyroid carcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000814326 | 3 | 0 | BeFree |
Bone neoplasms | 0.000542884 | 2 | 0 | BeFree |
Glioblastoma | 0.000542884 | 2 | 0 | BeFree |
Lymphoma | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000542884 | 2 | 0 | BeFree |
Pituitary Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Rothmund-Thomson syndrome | 0.000542884 | 2 | 0 | BeFree |
Rett Syndrome | 0.000542884 | 2 | 0 | BeFree |
Scoliosis, unspecified | 0.000542884 | 2 | 0 | BeFree |
Thyroid Neoplasm | 0.000542884 | 2 | 0 | BeFree |
Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
Solid tumour | 0.000542884 | 2 | 0 | BeFree |
Congenital scoliosis | 0.000542884 | 2 | 0 | BeFree |
Epithelial ovarian cancer | 0.000542884 | 2 | 0 | BeFree |
Lack of bone formation | 0.000542884 | 2 | 0 | BeFree |
Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Acquired scoliosis | 0.000542884 | 2 | 0 | BeFree |
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly | 0.000542884 | 2 | 0 | BeFree |
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Aortic Valve Stenosis | 0.000271442 | 1 | 0 | BeFree |
Arthritis | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of thyroid | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Osteitis Fibrosa Disseminata | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Hyperglycemia | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Mastocytosis | 0.000271442 | 1 | 0 | BeFree |
Monoclonal Gammopathy of Undetermined Significance | 0.000271442 | 1 | 0 | BeFree |
Myopathy | 0.000271442 | 1 | 0 | BeFree |
Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
Urticaria Pigmentosa | 0.000271442 | 1 | 0 | BeFree |
Acute leukemia | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000271442 | 1 | 0 | BeFree |
Saethre-Chotzen Syndrome | 0.000271442 | 1 | 0 | BeFree |
Follicular adenoma | 0.000271442 | 1 | 0 | BeFree |
Ossifying Fibroma | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant Bone Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Tumor necrosis | 0.000271442 | 1 | 0 | BeFree |
Osteoma cutis | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Disseminated Malignant Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Congenital hypoplasia of clavicle | 0.000271442 | 1 | 0 | BeFree |
Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of kidney | 0.000271442 | 1 | 0 | BeFree |
Adult Acute Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Spots on skin | 0.000271442 | 1 | 0 | BeFree |
Invasive breast carcinoma | 0.000271442 | 1 | 0 | BeFree |
Stromal Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Metastatic Prostate Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Aortic valve disorder | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Desmoplastic | 0.000271442 | 1 | 0 | BeFree |
Tumor Angiogenesis | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma Multiforme | 0.000271442 | 1 | 0 | BeFree |
androgen independent prostate cancer | 0.000271442 | 1 | 0 | BeFree |
Prostate Cancer, Hereditary, 7 | 0.000271442 | 1 | 0 | BeFree |
Acampomelic Campomelic Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Split-Hand/Foot Malformation | 0.000271442 | 1 | 0 | BeFree |
Peri-Implantitis | 0.000271442 | 1 | 0 | BeFree |
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