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The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]
[中文简述(自动翻译):]  转录的起始部分是由被称为前起始复合物的大蛋白装配控制。这个起始前复合物的组分是1.2丙二醛蛋白质聚集叫做中保。这种中介部件与CDK8亚复合含有由该基因编码的蛋白质,介体复合亚基12(MED12)结合,具有MED13,CDK8激酶沿,和细胞周期蛋白C的CDK8亚复合调制调解器,聚合酶II的相互作用,并由此调节转录起始和reinitation率。的MED12蛋白是激活CDK8激酶是至关重要的。缺陷在该基因引起X连锁奥皮茨-Kaveggia综合征,也称为FG综合征和卢汉-羽森综合征。 [由RefSeq的,2009年08月提供]
MED12基因(以及对应的蛋白质)的细胞分布位置:
MED12基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Lujan Fryns syndrome | 0.480542884 | 2 | 2 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
FG syndrome | 0.362442977 | 9 | 3 | BeFree_CLINVAR_CTD_human_UNIPROT |
Ohdo syndrome, Maat-Kievit-Brunner type | 0.360542884 | 2 | 4 | BeFree_CLINVAR_ORPHANET_UNIPROT |
Phyllodes Tumor | 0.121357209 | 6 | 0 | BeFree_CTD_human |
Fibroadenoma | 0.121085767 | 5 | 0 | BeFree_CTD_human |
Prostatic Neoplasms | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Mammary Neoplasms | 0.120271442 | 3 | 0 | BeFree_CTD_human |
Adrenocortical carcinoma | 0.12 | 1 | 0 | CTD_human |
Optic Atrophy, Autosomal Dominant | 0.031215815 | 115 | 0 | BeFree |
Schizophrenia | 0.019998279 | 11 | 0 | BeFree_GAD_LHGDN |
Optic Atrophy | 0.009229024 | 34 | 0 | BeFree |
Uterine Fibroids | 0.00868614 | 32 | 0 | BeFree |
Fibroid Tumor | 0.007600372 | 28 | 0 | BeFree |
Disorder of the optic nerve | 0.004071628 | 15 | 0 | BeFree |
Hypothyroidism | 0.003724241 | 5 | 0 | BeFree_GAD |
Mental Retardation, X-Linked | 0.003538676 | 3 | 0 | BeFree_LHGDN |
Mental Retardation | 0.003452799 | 4 | 0 | BeFree_GAD |
Autistic Disorder | 0.003181358 | 3 | 0 | BeFree_GAD |
Psychotic Disorders | 0.002909916 | 3 | 0 | BeFree_GAD |
Synovial Cyst | 0.002714419 | 10 | 0 | BeFree |
Myxoid cyst | 0.002714419 | 10 | 0 | BeFree |
Unipolar Depression | 0.002638474 | 1 | 0 | BeFree_GAD |
Phobic anxiety disorder | 0.002638474 | 1 | 0 | BeFree_GAD |
Major Depressive Disorder | 0.002638474 | 1 | 0 | BeFree_GAD |
Low Tension Glaucoma | 0.002442977 | 9 | 0 | BeFree |
Bipolar Disorder | 0.002367032 | 1 | 0 | GAD |
leiomyosarcoma | 0.002171535 | 8 | 0 | BeFree |
Smooth Muscle Tumor | 0.001900093 | 7 | 0 | BeFree |
Optic Atrophy, Hereditary, Leber | 0.001628651 | 6 | 0 | BeFree |
Glaucoma, Primary Open Angle | 0.001357209 | 5 | 0 | BeFree |
Carcinogenesis | 0.001357209 | 5 | 0 | BeFree |
Glaucoma | 0.001085767 | 4 | 0 | BeFree |
Inherited optic neuropathy | 0.001085767 | 4 | 0 | BeFree |
Mitochondrial Diseases | 0.001085767 | 4 | 0 | BeFree |
Intellectual Disability | 0.001085767 | 4 | 1 | BeFree |
Sensorineural Hearing Loss (disorder) | 0.000814326 | 3 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000814326 | 3 | 0 | BeFree |
Leiomyosarcoma of uterus | 0.000814326 | 3 | 0 | BeFree |
Neurodegenerative Disorders | 0.000814326 | 3 | 0 | BeFree |
Unspecified visual loss | 0.000814326 | 3 | 0 | BeFree |
Congenital chromosomal disease | 0.000542884 | 2 | 0 | BeFree |
Mental Depression | 0.000542884 | 2 | 0 | BeFree |
Depressive disorder | 0.000542884 | 2 | 0 | BeFree |
nervous system disorder | 0.000542884 | 2 | 0 | BeFree |
Cataract | 0.000542884 | 2 | 0 | BeFree |
External Ophthalmoplegia | 0.000542884 | 2 | 0 | BeFree |
Mitochondrial Myopathies | 0.000542884 | 2 | 0 | BeFree |
Chronic progressive external ophthalmoplegia | 0.000542884 | 2 | 0 | BeFree |
Neoplasms, Fibroepithelial | 0.000542884 | 2 | 0 | BeFree |
Blindness, Legal | 0.000542884 | 2 | 0 | BeFree |
Myomatous neoplasm | 0.000542884 | 2 | 0 | BeFree |
Nonorganic psychosis | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
3-Methylglutaconic aciduria type 3 | 0.000542884 | 2 | 0 | BeFree |
Intraocular pressure disorder | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
LATERAL MENINGOCELE SYNDROME | 0.000542884 | 2 | 0 | BeFree |
Auditory neuropathy | 0.000542884 | 2 | 0 | BeFree |
Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
Amputation Stumps | 0.000271442 | 1 | 0 | BeFree |
Amyotrophic Lateral Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Ataxia | 0.000271442 | 1 | 0 | BeFree |
Mental disorders | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Charcot-Marie-Tooth Disease | 0.000271442 | 1 | 0 | BeFree |
Color vision defect | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
Hearing Loss, High-Frequency | 0.000271442 | 1 | 0 | BeFree |
Congenital Heart Defects | 0.000271442 | 1 | 0 | BeFree |
Heart failure | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Hirschsprung Disease | 0.000271442 | 1 | 0 | BeFree |
Hypertensive disease | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Myopathy | 0.000271442 | 1 | 0 | BeFree |
Ophthalmoplegia | 0.000271442 | 1 | 0 | BeFree |
Optic Atrophies, Hereditary | 0.000271442 | 1 | 0 | BeFree |
Pallor | 0.000271442 | 1 | 0 | BeFree |
Peripheral Neuropathy | 0.000271442 | 1 | 0 | BeFree |
Soft Tissue Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Paraparesis, Spastic | 0.000271442 | 1 | 0 | BeFree |
Spastic Paraplegia, Hereditary | 0.000271442 | 1 | 0 | BeFree |
Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
Benign Neoplasm | 0.000271442 | 1 | 0 | BeFree |
MERRF Syndrome | 0.000271442 | 1 | 0 | BeFree |
Endometrial Stromal Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Leiomyomatosis | 0.000271442 | 1 | 0 | BeFree |
Speech impairment | 0.000271442 | 1 | 0 | BeFree |
Neurologic Symptoms | 0.000271442 | 1 | 0 | BeFree |
Cerebral atrophy | 0.000271442 | 1 | 0 | BeFree |
Parkinsonian Disorders | 0.000271442 | 1 | 0 | BeFree |
Leiomyomatosis peritonealis disseminata | 0.000271442 | 1 | 0 | BeFree |
Cytochrome-c Oxidase Deficiency | 0.000271442 | 1 | 0 | BeFree |
Cellular leiomyoma | 0.000271442 | 1 | 0 | BeFree |
Intracanalicular fibroadenoma | 0.000271442 | 1 | 0 | BeFree |
Phyllodes tumor, benign | 0.000271442 | 1 | 0 | BeFree |
Dementia | 0.000271442 | 1 | 0 | BeFree |
Multisystem disorder | 0.000271442 | 1 | 0 | BeFree |
Malignant Cystosarcoma Phyllodes | 0.000271442 | 1 | 0 | BeFree |
Blepharophimosis syndrome Ohdo type | 0.000271442 | 1 | 0 | BeFree |
Metastatic leiomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
Peripheral axonal neuropathy | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Sensory hearing loss | 0.000271442 | 1 | 0 | BeFree |
Deaf-Blind Disorders | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Hirschsprung disease 1 | 0.000271442 | 1 | 0 | BeFree |
Hereditary Neurodegenerative Disorder | 0.000271442 | 1 | 0 | BeFree |
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