更多...
收起
This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此内含子基因编码SRY相关HMG盒(SOX)家族参与胚胎发育的调节和细胞命运的决定转录因子的成员。需要该基因的产物为干细胞维持在中枢神经系统中,并还规定在胃中的基因表达。在这种基因突变与视神经发育不全和综合征小眼球,结构眼畸形的一个严重的形式相关联。该基因位于被称为SOX2另一种基因转录重叠(SOX2OT)的内含子中。 [由RefSeq的,2008年7月提供]
SOX2基因(以及对应的蛋白质)的细胞分布位置:
SOX2基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Microphthalmia, Syndromic 3 | 0.360814326 | 3 | 0 | BeFree_CLINVAR_CTD_human_ORPHANET |
| Anophthalmos | 0.13806451 | 23 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Squamous cell carcinoma | 0.125428837 | 20 | 0 | BeFree_CTD_human |
| Septo-Optic Dysplasia | 0.123538676 | 3 | 0 | BeFree_LHGDN_ORPHANET |
| Squamous cell carcinoma of esophagus | 0.121900093 | 7 | 0 | BeFree_CTD_human |
| Lung Neoplasms | 0.121357209 | 6 | 0 | BeFree_CTD_human |
| Small cell carcinoma of lung | 0.121085767 | 4 | 0 | BeFree_CTD_human |
| Thoracic Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Sarcoma | 0.12 | 1 | 0 | CTD_human |
| Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
| Microphthalmos | 0.011172724 | 16 | 0 | BeFree_GAD |
| Carcinogenesis | 0.009500466 | 35 | 0 | BeFree |
| Congenital ocular coloboma (disorder) | 0.008815624 | 7 | 0 | BeFree_GAD_LHGDN |
| Stomach Neoplasms | 0.005991584 | 4 | 0 | BeFree_LHGDN |
| Diabetes Mellitus, Insulin-Dependent | 0.005276948 | 2 | 0 | BeFree_GAD |
| Diabetic Nephropathy | 0.005276948 | 2 | 0 | BeFree_GAD |
| Malignant neoplasm of breast | 0.005157396 | 19 | 0 | BeFree |
| Breast Carcinoma | 0.005157396 | 19 | 0 | BeFree |
| Kidney Failure, Chronic | 0.005005506 | 3 | 0 | BeFree_GAD |
| Glioma | 0.004885954 | 18 | 0 | BeFree |
| Neoplasm Metastasis | 0.004885954 | 18 | 0 | BeFree |
| Glioblastoma | 0.004071628 | 15 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.003528744 | 13 | 0 | BeFree |
| Eye Abnormalities | 0.003452799 | 5 | 0 | BeFree_GAD |
| Mammary Neoplasms | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Carcinoma of lung | 0.003257302 | 12 | 0 | BeFree |
| Malignant neoplasm of lung | 0.002985861 | 11 | 0 | BeFree |
| Stomach Carcinoma | 0.002985861 | 11 | 0 | BeFree |
| Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Metaplasia | 0.00272435 | 1 | 0 | LHGDN |
| Embryonal Carcinoma | 0.002714419 | 10 | 0 | BeFree |
| Myopia | 0.002638474 | 1 | 0 | BeFree_GAD |
| Adenocarcinoma | 0.002442977 | 9 | 0 | BeFree |
| Pituitary Diseases | 0.002442977 | 9 | 0 | BeFree |
| Prostate carcinoma | 0.002442977 | 9 | 0 | BeFree |
| Congenital Abnormality | 0.002171535 | 8 | 0 | BeFree |
| Hypogonadotropic hypogonadism | 0.002171535 | 8 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.002171535 | 8 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.001900093 | 7 | 0 | BeFree |
| Colorectal Carcinoma | 0.001900093 | 7 | 0 | BeFree |
| Medulloblastoma | 0.001900093 | 7 | 0 | BeFree |
| Squamous cell carcinoma of lung | 0.001900093 | 7 | 0 | BeFree |
| Tumor Progression | 0.001900093 | 7 | 0 | BeFree |
| Klinefelter Syndrome | 0.001628651 | 6 | 0 | BeFree |
| Liver carcinoma | 0.001628651 | 6 | 0 | BeFree |
| Brain Neoplasms | 0.001357209 | 5 | 0 | BeFree |
| Pancreatic carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Colorectal Cancer | 0.001357209 | 5 | 0 | BeFree |
| Disorder of eye | 0.001085767 | 4 | 0 | BeFree |
| Hypopituitarism | 0.001085767 | 4 | 0 | BeFree |
| Neuroblastoma | 0.001085767 | 4 | 0 | BeFree |
| Seminoma | 0.001085767 | 4 | 0 | BeFree |
| Teratoma | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.001085767 | 4 | 0 | BeFree |
| Malignant Glioma | 0.001085767 | 4 | 0 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.001085767 | 4 | 0 | BeFree |
| Central neuroblastoma | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of larynx | 0.000814326 | 3 | 0 | BeFree |
| Diabetes Mellitus | 0.000814326 | 3 | 1 | BeFree |
| Esophageal Atresia | 0.000814326 | 3 | 1 | BeFree |
| melanoma | 0.000814326 | 3 | 0 | BeFree |
| Osteosarcoma | 0.000814326 | 3 | 0 | BeFree |
| Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Cervical Squamous Cell Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Osteosarcoma of bone | 0.000814326 | 3 | 0 | BeFree |
| Carcinoma of larynx | 0.000814326 | 3 | 0 | BeFree |
| Tumor Initiation | 0.000814326 | 3 | 0 | BeFree |
| Squamous cell carcinoma of the head and neck | 0.000814326 | 3 | 0 | BeFree |
| Glioblastoma Multiforme | 0.000814326 | 3 | 0 | BeFree |
| Anaplasia | 0.000542884 | 2 | 0 | BeFree |
| Astrocytoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant tumor of cervix | 0.000542884 | 2 | 0 | BeFree |
| Diabetes | 0.000542884 | 2 | 1 | BeFree |
| Endometriosis | 0.000542884 | 2 | 0 | BeFree |
| Epilepsy | 0.000542884 | 2 | 0 | BeFree |
| Multiple Myeloma | 0.000542884 | 2 | 0 | BeFree |
| Pituitary Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| polyps | 0.000542884 | 2 | 0 | BeFree |
| Severe Combined Immunodeficiency | 0.000542884 | 2 | 0 | BeFree |
| Adenocarcinoma of lung (disorder) | 0.000542884 | 2 | 0 | BeFree |
| gliosarcoma | 0.000542884 | 2 | 0 | BeFree |
| Anaplastic thyroid carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Cervix carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of liver | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of esophagus | 0.000542884 | 2 | 0 | BeFree |
| Pituitary hypoplasia | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
| Benign Prostatic Hyperplasia | 0.000542884 | 2 | 0 | BeFree |
| Nasopharyngeal carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Adenoma | 0.000271442 | 1 | 0 | BeFree |
| Ameloblastoma | 0.000271442 | 1 | 0 | BeFree |
| Fabry Disease | 0.000271442 | 1 | 0 | BeFree |
| Bacterial Infections | 0.000271442 | 1 | 0 | BeFree |
| Beckwith-Wiedemann Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of urinary bladder | 0.000271442 | 1 | 0 | BeFree |
| Carcinoid Tumor | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Developmental Disabilities | 0.000271442 | 1 | 0 | BeFree |
| Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
| Ulcerative Colitis | 0.000271442 | 1 | 0 | BeFree |
| Febrile Convulsions | 0.000271442 | 1 | 0 | BeFree |
| Craniopharyngioma | 0.000271442 | 1 | 0 | BeFree |
| Cystic Adenomatoid Malformation of Lung, Congenital | 0.000271442 | 1 | 0 | BeFree |
| Yolk Sac Tumor | 0.000271442 | 1 | 0 | BeFree |
| Epilepsy, Temporal Lobe | 0.000271442 | 1 | 0 | BeFree |
| Esophageal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Sensorineural Hearing Loss (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Hirschsprung Disease | 0.000271442 | 1 | 0 | BeFree |
| Immunologic Deficiency Syndromes | 0.000271442 | 1 | 0 | BeFree |
| Inflammatory Bowel Diseases | 0.000271442 | 1 | 0 | BeFree |
| Monoclonal Gammopathy of Undetermined Significance | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
| Prostatic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Refractive Errors | 0.000271442 | 1 | 0 | BeFree |
| Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Arachnoid Cysts | 0.000271442 | 1 | 0 | BeFree |
| Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of mouth | 0.000271442 | 1 | 0 | BeFree |
| Acute myocardial infarction | 0.000271442 | 1 | 0 | BeFree |
| Iron deficiency anemia | 0.000271442 | 1 | 0 | BeFree |
| Germ cell tumor | 0.000271442 | 1 | 0 | BeFree |
| Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cervical Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
| Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Circling gait | 0.000271442 | 1 | 0 | BeFree |
| Multiple tumors | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma, Small Cell | 0.000271442 | 1 | 0 | BeFree |
| Ichthyosis linearis circumflexa | 0.000271442 | 1 | 0 | BeFree |
| Gastric Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Teratoma, Malignant | 0.000271442 | 1 | 0 | BeFree |
| Pilocytic Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
| Human papilloma virus infection | 0.000271442 | 1 | 0 | BeFree |
| Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of skin | 0.000271442 | 1 | 0 | BeFree |
| Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
| Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
| Germ Cell Cancer | 0.000271442 | 1 | 0 | BeFree |
| Brain Tumor, Primary | 0.000271442 | 1 | 0 | BeFree |
| Malignant Squamous Cell Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Multiple Sclerosis, Relapsing-Remitting | 0.000271442 | 1 | 0 | BeFree |
| Helicobacter pylori infection | 0.000271442 | 1 | 0 | BeFree |
| Invasive breast carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
| cancer recurrence | 0.000271442 | 1 | 0 | BeFree |
| Ductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Nonseminomatous germ cell tumor | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Testicular Germ Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
| Cardiomyopathy, Familial Idiopathic | 0.000271442 | 1 | 0 | BeFree |
| Hippocampal sclerosis | 0.000271442 | 1 | 0 | BeFree |
| NUT Midline Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Keratocystic Odontogenic Tumor | 0.000271442 | 1 | 0 | BeFree |
| Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
| Hirschsprung disease 1 | 0.000271442 | 1 | 0 | BeFree |
| Early-Stage Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type | 0.000271442 | 1 | 0 | BeFree |
| Male Germ Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。