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This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因是配对盒(PAX)家族的转录因子的成员。在PAX家族的成员通常包含一个配对盒域和配对型同源。这些基因胚胎发育过程中发挥关键作用。在配对盒基因的突变3与瓦登伯革氏症候群,颅面耳聋手综合征,和肺泡横纹肌肉瘤有关。该易位t(2; 13)(Q35; Q14),它代表PAX3和叉头基因之间的融合,是在肺泡横纹肌肉瘤经常发现。选择性剪接的结果与编码不同的C末端亚型成绩单。 [由RefSeq的,2008年7月提供]
PAX3基因(以及对应的蛋白质)的细胞分布位置:
PAX3基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Craniofacial deafness hand syndrome | 0.480542884 | 3 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Waardenburg Syndrome Type 1 | 0.448957582 | 38 | 5 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
Alveolar rhabdomyosarcoma | 0.357770146 | 102 | 0 | BeFree_CTD_human_LHGDN_MGD_ORPHANET |
Klein's Syndrome | 0.241085767 | 6 | 1 | BeFree_ORPHANET_UNIPROT |
Waardenburg Syndrome | 0.137392143 | 46 | 1 | BeFree_CTD_human_LHGDN |
Neural Tube Defects | 0.12272435 | 3 | 0 | CTD_human_LHGDN |
Sarcoma | 0.122171535 | 8 | 0 | BeFree_CTD_human |
Spina Bifida | 0.121900093 | 10 | 0 | BeFree_CTD_human |
Deafness | 0.12 | 1 | 0 | CTD_human |
Congenital Hand Deformities | 0.12 | 1 | 0 | CTD_human |
Klein-Waardenberg's syndrome | 0.12 | 0 | 3 | CLINVAR |
Craniofacial Abnormalities | 0.12 | 1 | 0 | CTD_human |
Congenital neurologic anomalies | 0.12 | 1 | 0 | CTD_human |
Sinonasal undifferentiated carcinoma | 0.12 | 1 | 0 | CTD_human |
Diaphragmatic Hernia | 0.08 | 1 | 0 | RGD |
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO | 0.08 | 0 | 0 | MGD |
Rhabdomyosarcoma | 0.024469495 | 52 | 0 | BeFree_LHGDN |
melanoma | 0.016511804 | 25 | 0 | BeFree_GAD_LHGDN |
Rhabdomyosarcoma, Embryonal | 0.011701795 | 15 | 0 | BeFree_LHGDN |
Carcinogenesis | 0.004614512 | 17 | 0 | BeFree |
Cleft Palate | 0.002638474 | 2 | 0 | BeFree_GAD |
Neoplasm Metastasis | 0.002442977 | 9 | 0 | BeFree |
Cleft Lip | 0.002367032 | 1 | 0 | GAD |
Retinal Diseases | 0.002367032 | 1 | 0 | GAD |
Skin Neoplasms | 0.002367032 | 1 | 0 | GAD |
FANCONI ANEMIA, COMPLEMENTATION GROUP E | 0.002367032 | 1 | 1 | GAD |
Malignant Childhood Neoplasm | 0.001628651 | 6 | 0 | BeFree |
Hirschsprung Disease | 0.001357209 | 5 | 0 | BeFree |
Hirschsprung disease 1 | 0.001357209 | 5 | 0 | BeFree |
Congenital Abnormality | 0.000814326 | 3 | 0 | BeFree |
Medulloblastoma | 0.000814326 | 3 | 0 | BeFree |
Piebaldism | 0.000814326 | 3 | 0 | BeFree |
Myomatous neoplasm | 0.000814326 | 3 | 0 | BeFree |
Waardenburg Syndrome Type 2 | 0.000814326 | 3 | 1 | BeFree |
Aniridia | 0.000542884 | 2 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
leukemia | 0.000542884 | 2 | 0 | BeFree |
Microphthalmos | 0.000542884 | 2 | 0 | BeFree |
Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Wolfram Syndrome | 0.000542884 | 2 | 0 | BeFree |
Small cell carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Congenital musculoskeletal anomalies | 0.000542884 | 2 | 0 | BeFree |
Cutaneous Melanoma | 0.000542884 | 2 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000542884 | 2 | 0 | BeFree |
Solid tumour | 0.000542884 | 2 | 0 | BeFree |
Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Autistic Disorder | 0.000271442 | 1 | 0 | BeFree |
Diphtheria | 0.000271442 | 1 | 0 | BeFree |
Double Outlet Right Ventricle | 0.000271442 | 1 | 0 | BeFree |
Epilepsy | 0.000271442 | 1 | 0 | BeFree |
Folic Acid Deficiency | 0.000271442 | 1 | 0 | BeFree |
Sensorineural Hearing Loss (disorder) | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
Nevus | 0.000271442 | 1 | 0 | BeFree |
Melanocytic nevus | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
Truncus Arteriosus, Persistent | 0.000271442 | 1 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Aganglionosis, Colonic | 0.000271442 | 1 | 0 | BeFree |
Benign Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Cleft palate with cleft lip | 0.000271442 | 1 | 0 | BeFree |
Neuroectodermal Tumors | 0.000271442 | 1 | 0 | BeFree |
Nevi and Melanomas | 0.000271442 | 1 | 0 | BeFree |
childhood rhabdomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
Metastatic malignant neoplasm to brain | 0.000271442 | 1 | 0 | BeFree |
Congenital defects | 0.000271442 | 1 | 0 | BeFree |
Gastrointestinal Stromal Tumors | 0.000271442 | 1 | 0 | BeFree |
Defect of diaphragm | 0.000271442 | 1 | 0 | BeFree |
Deformity of limb | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Small Cell | 0.000271442 | 1 | 0 | BeFree |
childhood solid tumor | 0.000271442 | 1 | 0 | BeFree |
alveolar childhood rhabdomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
Irido-corneo-trabecular dysgenesis (disorder) | 0.000271442 | 1 | 1 | BeFree |
Disseminated Malignant Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Symmetrical dyschromatosis of extremities | 0.000271442 | 1 | 0 | BeFree |
Ewings sarcoma | 0.000271442 | 1 | 0 | BeFree |
Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
Glioma of brainstem | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Benign melanocytic nevus | 0.000271442 | 1 | 0 | BeFree |
Alport Syndrome | 0.000271442 | 1 | 0 | BeFree |
WAARDENBURG SYNDROME, TYPE 4A | 0.000271442 | 1 | 0 | BeFree |
WAARDENBURG SYNDROME, TYPE IIA | 0.000271442 | 1 | 0 | BeFree |
Melanocytic nevus of skin | 0.000271442 | 1 | 0 | BeFree |
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