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This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
[中文简述(自动翻译):]  这座编码的MADS框的转录增强因子2(MEF2)家族蛋白质,其在肌发挥作用的成员。所编码的蛋白质,MEF2多肽C,同时具有反式激活和DNA结合活性。这种蛋白可以以维持肌肉细胞的分化状态发挥作用。在这个位点突变和缺失已严重精神发育迟滞,动作刻板,癫痫,脑畸形有关。可变剪接转录物变体已有描述。 [由RefSeq的,2010年7月提供]
MEF2C基因(以及对应的蛋白质)的细胞分布位置:
MEF2C基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 | 0.36 | 0 | 8 | CLINVAR_CTD_human_ORPHANET |
Status Epilepticus | 0.2 | 1 | 0 | CTD_human_RGD |
Epilepsy | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Intellectual Disability | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Stereotypic Movement Disorder | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Autistic Disorder | 0.12 | 1 | 0 | CTD_human |
Child Development Disorders, Pervasive | 0.12 | 1 | 0 | CTD_human |
Platelet mean volume finding | 0.12 | 1 | 1 | GWASCAT |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Myocardial Infarction | 0.08 | 1 | 0 | RGD |
Liver carcinoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002638474 | 2 | 1 | BeFree_GAD |
Mental Retardation | 0.002638474 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of breast | 0.002367032 | 1 | 0 | GAD |
Cardiovascular Diseases | 0.002367032 | 1 | 0 | GAD |
Cardiomegaly | 0.002367032 | 1 | 1 | GAD |
Blood pressure finding | 0.002367032 | 1 | 1 | GAD |
Systemic arterial pressure | 0.002367032 | 1 | 1 | GAD |
Fibrinogen Adverse Event | 0.002367032 | 1 | 1 | GAD |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.001357209 | 5 | 0 | BeFree |
Severe mental retardation (I.Q. 20-34) | 0.001085767 | 4 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000814326 | 3 | 0 | BeFree |
Congenital Abnormality | 0.000542884 | 2 | 0 | BeFree |
Heart failure | 0.000542884 | 2 | 0 | BeFree |
Congestive heart failure | 0.000542884 | 2 | 0 | BeFree |
leukemia | 0.000542884 | 2 | 0 | BeFree |
Muscle hypotonia | 0.000542884 | 2 | 0 | BeFree |
Developmental delay (disorder) | 0.000542884 | 2 | 0 | BeFree |
Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
Dyskinetic syndrome | 0.000271442 | 1 | 0 | BeFree |
Fatigue | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia | 0.000271442 | 1 | 0 | BeFree |
Myelomonocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
Rhabdomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
Seizures | 0.000271442 | 1 | 0 | BeFree |
Lymphoma, T-Cell, Cutaneous | 0.000271442 | 1 | 0 | BeFree |
Cataract | 0.000271442 | 1 | 0 | BeFree |
Angelman Syndrome | 0.000271442 | 1 | 0 | BeFree |
Arrhythmogenic Right Ventricular Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Dysmorphic features | 0.000271442 | 1 | 0 | BeFree |
Mirror movements disorder | 0.000271442 | 1 | 0 | BeFree |
Dementia | 0.000271442 | 1 | 0 | BeFree |
Bilateral cataracts (disorder) | 0.000271442 | 1 | 0 | BeFree |
Hyperhomocysteinemia | 0.000271442 | 1 | 0 | BeFree |
Mental impairment | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathies | 0.000271442 | 1 | 0 | BeFree |
Neurodevelopmental Disorders | 0.000271442 | 1 | 0 | BeFree |
androgen independent prostate cancer | 0.000271442 | 1 | 0 | BeFree |
Mowat-Wilson syndrome | 0.000271442 | 1 | 0 | BeFree |
Rett Syndrome, Atypical | 0.000271442 | 1 | 0 | BeFree |
Homocysteinemia | 0.000271442 | 1 | 0 | BeFree |
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