更多...
收起
This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码属于的Gli家族的C2H2型锌指蛋白亚类的蛋白质。他们的特点是DNA结合转录因子的刺猬索尼克(嘘)信号的介质。由该基因编码的蛋白定位在细胞质和激活修补的果蝇同源物(PTCH)基因的表达。它也被认为胚胎发育过程中发挥作用。在这种基因突变已与若干疾病,包括基利cephalopolysyndactyly综合征,帕利斯特霍尔综合征,preaxial趾型IV和postaxial趾类型相关联的A 1和B通过的RefSeq,2008年7月提供]
GLI3基因(以及对应的蛋白质)的细胞分布位置:
GLI3基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Greig cephalopolysyndactyly syndrome | 0.567057489 | 26 | 8 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| Pallister-Hall syndrome | 0.449977336 | 21 | 29 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET |
| POLYDACTYLY, POSTAXIAL | 0.241900093 | 7 | 0 | BeFree_CLINVAR_CTD_human |
| Acrocallosal Syndrome | 0.240814326 | 3 | 0 | BeFree_CTD_human_ORPHANET |
| Polydactyly, preaxial 4 | 0.24 | 0 | 1 | CLINVAR_CTD_human |
| Polydactyly | 0.125352893 | 12 | 0 | BeFree_CTD_human_GAD |
| Hypothalamic hamartomas | 0.120542884 | 2 | 0 | BeFree_CTD_human |
| Hypopigmentation disorder | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Neural Tube Defects | 0.12 | 1 | 0 | CTD_human |
| Stomach Neoplasms | 0.12 | 1 | 0 | CTD_human |
| POSTAXIAL POLYDACTYLY, TYPE B | 0.12 | 0 | 0 | CLINVAR |
| Postaxial polydactyly type A | 0.12 | 1 | 1 | UNIPROT |
| Hamartoma | 0.008087174 | 3 | 0 | BeFree_GAD_LHGDN |
| Syndactyly | 0.00617715 | 6 | 0 | BeFree_GAD_LHGDN |
| Congenital clubfoot | 0.005362824 | 2 | 0 | BeFree_GAD_LHGDN |
| Amyotrophic Lateral Sclerosis | 0.003257302 | 12 | 0 | BeFree |
| Craniofacial Abnormalities | 0.002909916 | 3 | 0 | BeFree_GAD |
| Colorectal Cancer | 0.002909916 | 3 | 0 | BeFree_GAD |
| Epilepsy | 0.00272435 | 1 | 0 | LHGDN |
| Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Albuminuria | 0.002367032 | 1 | 1 | GAD |
| Chromosome Aberrations | 0.002367032 | 1 | 0 | GAD |
| Hay fever | 0.002367032 | 1 | 1 | GAD |
| Hypothalamic Diseases | 0.002367032 | 1 | 0 | GAD |
| Inflammation | 0.002367032 | 1 | 1 | GAD |
| Mouth Abnormalities | 0.002367032 | 1 | 0 | GAD |
| Anorectal Anomalies | 0.002367032 | 1 | 0 | GAD |
| Congenital Abnormality | 0.001357209 | 5 | 0 | BeFree |
| Polydactyly of toes | 0.001357209 | 5 | 0 | BeFree |
| Craniosynostosis | 0.001085767 | 4 | 0 | BeFree |
| Glioblastoma | 0.001085767 | 4 | 0 | BeFree |
| Herpes Simplex Infections | 0.001085767 | 4 | 0 | BeFree |
| Rett Syndrome | 0.001085767 | 4 | 0 | BeFree |
| Carcinogenesis | 0.001085767 | 4 | 0 | BeFree |
| Ataxia Telangiectasia | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
| Colorectal Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Myeloid Leukemia | 0.000814326 | 3 | 0 | BeFree |
| Neurodegenerative Disorders | 0.000814326 | 3 | 0 | BeFree |
| Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Autism Spectrum Disorders | 0.000814326 | 3 | 0 | BeFree |
| Liver carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant tumor of colon | 0.000542884 | 2 | 0 | BeFree |
| Merkel cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Congenital chromosomal disease | 0.000542884 | 2 | 0 | BeFree |
| Esophageal Atresia | 0.000542884 | 2 | 0 | BeFree |
| HIV Infections | 0.000542884 | 2 | 0 | BeFree |
| leukemia | 0.000542884 | 2 | 0 | BeFree |
| Acute lymphocytic leukemia | 0.000542884 | 2 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000542884 | 2 | 0 | BeFree |
| Medulloblastoma | 0.000542884 | 2 | 0 | BeFree |
| Xeroderma Pigmentosum | 0.000542884 | 2 | 0 | BeFree |
| Holoprosencephaly | 0.000542884 | 2 | 0 | BeFree |
| Aarskog syndrome | 0.000542884 | 2 | 0 | BeFree |
| Limb Deformities, Congenital | 0.000542884 | 2 | 0 | BeFree |
| CHARGE Syndrome | 0.000542884 | 2 | 0 | BeFree |
| Trigonocephaly | 0.000542884 | 2 | 0 | BeFree |
| Polysyndactyly | 0.000542884 | 2 | 0 | BeFree |
| Radial polydactyly | 0.000542884 | 2 | 0 | BeFree |
| Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Lewy Body Disease | 0.000542884 | 2 | 0 | BeFree |
| Hepatocarcinogenesis | 0.000542884 | 2 | 0 | BeFree |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | 0.000542884 | 2 | 0 | BeFree |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000542884 | 2 | 0 | BeFree |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000542884 | 2 | 0 | BeFree |
| Anus, Imperforate | 0.000271442 | 1 | 0 | BeFree |
| Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
| Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
| Behcet Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
| Developmental Disabilities | 0.000271442 | 1 | 0 | BeFree |
| Chondromatosis, Synovial | 0.000271442 | 1 | 0 | BeFree |
| Choriocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Colonic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
| Experimental Autoimmune Encephalomyelitis | 0.000271442 | 1 | 0 | BeFree |
| Chronic granulomatous disease | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis B | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis C | 0.000271442 | 1 | 0 | BeFree |
| Hydatidiform Mole | 0.000271442 | 1 | 0 | BeFree |
| Orbital separation excessive | 0.000271442 | 1 | 0 | BeFree |
| Hypertensive disease | 0.000271442 | 1 | 0 | BeFree |
| Hypodontia | 0.000271442 | 1 | 1 | BeFree |
| Inflammatory Bowel Diseases | 0.000271442 | 1 | 0 | BeFree |
| Ischemia | 0.000271442 | 1 | 0 | BeFree |
| Kidney Failure, Acute | 0.000271442 | 1 | 0 | BeFree |
| Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Orofaciodigital Syndromes | 0.000271442 | 1 | 0 | BeFree |
| Synovial osteochondromatosis | 0.000271442 | 1 | 0 | BeFree |
| Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Pituitary Diseases | 0.000271442 | 1 | 0 | BeFree |
| Systemic Scleroderma | 0.000271442 | 1 | 0 | BeFree |
| Virus Diseases | 0.000271442 | 1 | 0 | BeFree |
| Arhinencephaly | 0.000271442 | 1 | 0 | BeFree |
| Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
| Autoimmune Syndrome Type II, Polyglandular | 0.000271442 | 1 | 0 | BeFree |
| Renal fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of penis | 0.000271442 | 1 | 0 | BeFree |
| Saethre-Chotzen Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Ki-1+ Anaplastic Large Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Hepatoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Stricture of anus | 0.000271442 | 1 | 0 | BeFree |
| Acute respiratory failure | 0.000271442 | 1 | 0 | BeFree |
| Scaphycephaly | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of pancreas | 0.000271442 | 1 | 0 | BeFree |
| Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Vitelliform Macular Dystrophy | 0.000271442 | 1 | 0 | BeFree |
| Familial dilated cardiomyopathy | 0.000271442 | 1 | 0 | BeFree |
| Familial primary pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
| Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | 0.000271442 | 1 | 0 | BeFree |
| Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
| Congenital absence of jaw | 0.000271442 | 1 | 0 | BeFree |
| ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Drug Resistant Epilepsy | 0.000271442 | 1 | 0 | BeFree |
| Acrocephalopolysyndactyly type 2 | 0.000271442 | 1 | 0 | BeFree |
| Chronic inflammatory disorder | 0.000271442 | 1 | 0 | BeFree |
| Addison's disease, struma lymphomatosa and insulin-dependent diabetes mellitus | 0.000271442 | 1 | 0 | BeFree |
| Polydactyly preaxial type 1 | 0.000271442 | 1 | 0 | BeFree |
| Orofaciodigital Syndrome I | 0.000271442 | 1 | 0 | BeFree |
| Idiopathic Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| AMYOTROPHIC LATERAL SCLEROSIS 1 | 0.000271442 | 1 | 0 | BeFree |
| ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT | 0.000271442 | 1 | 0 | BeFree |
| Cavernous Hemangioma of Brain | 0.000271442 | 1 | 0 | BeFree |
| HYDATIDIFORM MOLE, RECURRENT, 1 | 0.000271442 | 1 | 0 | BeFree |
| Experimental Organism Basal Cell Carcinoma | 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。