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This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
[中文简述(自动翻译):]  该基因编码配对盒基因6,果蝇基因珠三角的许多人类同源之一。除了该基因家族,一个保守的配对盒结构域的标志特征,所编码的蛋白质也含有homeo box结构域。两个域是已知的DNA结合和功能的基因转录的调节。该基因在发育的神经系统中表达,并在显影的眼睛。在这个基因的突变是已知的导致眼部病症,如无虹膜和彼得的异常。编码多种亚型选择性剪接的转录物变体已经观察到这种基因。 [由RefSeq的,2012年5月提供]
PAX6基因(以及对应的蛋白质)的细胞分布位置:
PAX6基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Aniridia | 0.606164981 | 152 | 15 | BeFree_CLINVAR_CTD_human_LHGDN_MGD_ORPHANET_UNIPROT |
Irido-corneo-trabecular dysgenesis (disorder) | 0.562714419 | 12 | 4 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Congenital ocular coloboma (disorder) | 0.480814326 | 4 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Optic Nerve Hypoplasia, Bilateral | 0.48 | 1 | 1 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Gillespie syndrome | 0.360271442 | 1 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET |
Coloboma of optic disc | 0.36 | 1 | 2 | CLINVAR_CTD_human_UNIPROT |
Keratitis, hereditary | 0.32 | 0 | 0 | CTD_human_MGD_ORPHANET |
FOVEAL HYPOPLASIA 1 | 0.24 | 1 | 0 | ORPHANET_UNIPROT |
Autistic Disorder | 0.203452799 | 6 | 1 | BeFree_CTD_human_GAD_RGD |
WAGR Syndrome | 0.124071628 | 15 | 0 | BeFree_ORPHANET |
Diabetes Mellitus, Non-Insulin-Dependent | 0.122638474 | 3 | 1 | BeFree_CTD_human_GAD |
Tooth Abnormalities | 0.120542884 | 4 | 0 | BeFree_CTD_human |
Craniofacial Abnormalities | 0.120542884 | 5 | 0 | BeFree_CTD_human |
Congenital ectopic pupil | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Diabetes Mellitus, Experimental | 0.12 | 1 | 0 | CTD_human |
melanoma | 0.12 | 1 | 0 | CTD_human |
Neoplasm Invasiveness | 0.12 | 1 | 0 | CTD_human |
Disorder of the optic nerve | 0.12 | 1 | 0 | CTD_human |
Stomach Neoplasms | 0.12 | 1 | 0 | CTD_human |
Aniridia type 2 | 0.12 | 0 | 0 | CTD_human |
Congenital neurologic anomalies | 0.12 | 1 | 0 | CTD_human |
Morning glory syndrome | 0.12 | 0 | 0 | ORPHANET |
Optic Nerve Aplasia, Bilateral | 0.12 | 0 | 1 | CLINVAR |
CATARACT, AUTOSOMAL DOMINANT | 0.12 | 0 | 0 | CTD_human |
O'Donnell Pappas syndrome | 0.12 | 0 | 0 | CTD_human |
Deletion 11p13 | 0.12 | 0 | 0 | ORPHANET |
Intellectual Disability | 0.12 | 1 | 0 | CTD_human |
Axenfeld-Rieger Syndrome, Type 1 | 0.12 | 1 | 0 | CTD_human |
Eye Abnormalities | 0.08643866 | 17 | 0 | BeFree_GAD_RGD |
Transient Ischemic Attack | 0.08 | 1 | 0 | RGD |
Smith-Lemli-Opitz Syndrome | 0.08 | 1 | 0 | RGD |
Anterior segment mesenchymal dysgenesis | 0.08 | 0 | 0 | MGD |
Myopia | 0.012539865 | 11 | 0 | BeFree_GAD_LHGDN |
Nephroblastoma | 0.008957582 | 33 | 0 | BeFree |
Mental Retardation | 0.007328931 | 27 | 0 | BeFree |
Congenital Abnormality | 0.005157396 | 19 | 0 | BeFree |
Glioma | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Cataract | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Refractive Errors | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Bladder Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Epilepsy | 0.002638474 | 2 | 0 | BeFree_GAD |
Schizophrenia | 0.002638474 | 1 | 0 | BeFree_GAD |
Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
Cleft Lip | 0.002367032 | 1 | 0 | GAD |
Cleft Palate | 0.002367032 | 1 | 0 | GAD |
Hypertensive disease | 0.002367032 | 1 | 0 | GAD |
Retinal Diseases | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Myopia, Degenerative | 0.002367032 | 1 | 0 | GAD |
Cerebral atrophy | 0.002367032 | 1 | 0 | GAD |
Microphthalmos | 0.001900093 | 7 | 0 | BeFree |
Severe myopia | 0.001900093 | 7 | 1 | BeFree |
Congenital cataract | 0.001628651 | 6 | 0 | BeFree |
Diabetes | 0.001628651 | 6 | 1 | BeFree |
Diabetes Mellitus | 0.001628651 | 6 | 1 | BeFree |
Disorder of eye | 0.001628651 | 6 | 0 | BeFree |
Retinoblastoma | 0.001628651 | 6 | 0 | BeFree |
Hypoplasia of iris | 0.001628651 | 6 | 0 | BeFree |
Obesity | 0.001357209 | 5 | 0 | BeFree |
Pituitary Diseases | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of breast | 0.001085767 | 4 | 0 | BeFree |
Glioblastoma | 0.001085767 | 4 | 0 | BeFree |
Nystagmus | 0.001085767 | 4 | 0 | BeFree |
Impaired glucose tolerance | 0.001085767 | 4 | 0 | BeFree |
Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Anophthalmos | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of urinary bladder | 0.000814326 | 3 | 0 | BeFree |
Keratitis | 0.000814326 | 3 | 0 | BeFree |
Keratopathy | 0.000814326 | 3 | 0 | BeFree |
Developmental delay (disorder) | 0.000814326 | 3 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000814326 | 3 | 0 | BeFree |
Carcinoma of bladder | 0.000814326 | 3 | 0 | BeFree |
Congenital nystagmus | 0.000814326 | 3 | 0 | BeFree |
Astrocytoma | 0.000542884 | 2 | 0 | BeFree |
Developmental Disabilities | 0.000542884 | 2 | 0 | BeFree |
Congenital chromosomal disease | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Dry Eye Syndromes | 0.000542884 | 2 | 0 | BeFree |
Pituitary dwarfism | 0.000542884 | 2 | 0 | BeFree |
Congenital hypoplasia | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
Urogenital Abnormalities | 0.000542884 | 2 | 0 | BeFree |
Low Vision | 0.000542884 | 2 | 0 | BeFree |
Achromatopsia | 0.000542884 | 2 | 0 | BeFree |
Corneal pannus | 0.000542884 | 2 | 0 | BeFree |
Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
Rieger syndrome | 0.000542884 | 2 | 0 | BeFree |
Microcornea | 0.000542884 | 2 | 0 | BeFree |
Congenital ptosis | 0.000542884 | 2 | 1 | BeFree |
Dryness of eye | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Cardiomyopathy, Familial Idiopathic | 0.000542884 | 2 | 0 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
Axenfeld-Rieger syndrome | 0.000542884 | 2 | 0 | BeFree |
Rieger eye malformation sequence | 0.000542884 | 2 | 0 | BeFree |
Albinism | 0.000271442 | 1 | 0 | BeFree |
Mental disorders | 0.000271442 | 1 | 0 | BeFree |
Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Corneal Diseases | 0.000271442 | 1 | 0 | BeFree |
Fanconi Anemia | 0.000271442 | 1 | 0 | BeFree |
Hydrophthalmos | 0.000271442 | 1 | 0 | BeFree |
Hypopituitarism | 0.000271442 | 1 | 0 | BeFree |
Immunologic Deficiency Syndromes | 0.000271442 | 1 | 0 | BeFree |
Keratoconjunctivitis Sicca | 0.000271442 | 1 | 0 | BeFree |
Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
Microcephaly | 0.000271442 | 1 | 0 | BeFree |
Neurofibromatosis 1 | 0.000271442 | 1 | 1 | BeFree |
Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
Paranoid Schizophrenia | 0.000271442 | 1 | 0 | BeFree |
Photophobia | 0.000271442 | 1 | 1 | BeFree |
Sicca Syndrome | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Exudative retinopathy | 0.000271442 | 1 | 0 | BeFree |
Presenile cataract | 0.000271442 | 1 | 0 | BeFree |
Neurofibromatoses | 0.000271442 | 1 | 1 | BeFree |
Subependymal Glioma | 0.000271442 | 1 | 0 | BeFree |
Neuroendocrine Tumors | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Proliferative retinopathy | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Metabolic Syndrome X | 0.000271442 | 1 | 0 | BeFree |
Mood Disorders | 0.000271442 | 1 | 0 | BeFree |
Posterior embryotoxon | 0.000271442 | 1 | 0 | BeFree |
Manifest-latent nystagmus | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Mitochondrial Diseases | 0.000271442 | 1 | 0 | BeFree |
Oculo-dento-digital syndrome | 0.000271442 | 1 | 0 | BeFree |
Invasive breast carcinoma | 0.000271442 | 1 | 0 | BeFree |
Retinal Dystrophies | 0.000271442 | 1 | 0 | BeFree |
Sleeplessness | 0.000271442 | 1 | 0 | BeFree |
Frasier Syndrome | 0.000271442 | 1 | 0 | BeFree |
Anterior subcapsular cataract | 0.000271442 | 1 | 0 | BeFree |
Invasive Ductal Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Large cell neuroendocrine carcinoma | 0.000271442 | 1 | 0 | BeFree |
Autism Spectrum Disorders | 0.000271442 | 1 | 0 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
Ocular surface disease | 0.000271442 | 1 | 0 | BeFree |
Foveal Hypoplasia, Isolated | 0.000271442 | 1 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Fetal microcephaly | 0.000271442 | 1 | 0 | BeFree |
Glaucoma of childhood | 0.000271442 | 1 | 0 | BeFree |
Waardenburg Syndrome | 0.000271442 | 1 | 1 | BeFree |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 0.000271442 | 1 | 0 | BeFree |
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