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The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是肌钙蛋白复合物,这是位于横纹肌的细丝和调节肌肉收缩响应于细胞内钙离子浓度变化的原肌球蛋白 - 结合亚基。在这种基因突变与家族性肥厚性心肌病,以及与扩张型心肌病相关联。此基因转录经历选择性剪接,其导致许多组织特异性同种型,但是,其中的一些变体的全长性质尚未确定。 [由RefSeq的,2008年7月提供]
TNNT2基因(以及对应的蛋白质)的细胞分布位置:
TNNT2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
CARDIOMYOPATHY, DILATED, 1D (disorder) | 0.44 | 2 | 13 | CLINVAR_CTD_human_MGD_UNIPROT |
Cardiomyopathy, Familial Hypertrophic, 2 | 0.44 | 12 | 24 | CLINVAR_CTD_human_MGD_UNIPROT |
Cardiomyopathy, Dilated | 0.255635346 | 20 | 4 | BeFree_CLINVAR_CTD_human_GAD |
Cardiomyopathy, Hypertrophic, Familial | 0.255521844 | 14 | 3 | BeFree_CLINVAR_CTD_human_LHGDN |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) | 0.24 | 0 | 2 | CLINVAR_CTD_human |
Hypertrophic Cardiomyopathy | 0.155829122 | 29 | 8 | BeFree_CTD_human_GAD_LHGDN |
Cardiomyopathies | 0.147827824 | 25 | 0 | BeFree_CTD_human_GAD_LHGDN |
Cardiomegaly | 0.125091382 | 3 | 0 | CTD_human_GAD_LHGDN |
Sudden Cardiac Death | 0.124734064 | 3 | 0 | CTD_human_GAD |
Chronic Obstructive Airway Disease | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
Tachycardia, Ventricular | 0.122367032 | 2 | 0 | CTD_human_GAD |
Left ventricular noncompaction | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
Heart failure | 0.120271442 | 3 | 0 | BeFree_CTD_human |
Cardiovascular Diseases | 0.12 | 1 | 0 | CTD_human |
Heart Diseases | 0.12 | 1 | 0 | CTD_human |
Necrosis | 0.12 | 1 | 0 | CTD_human |
Respiratory Distress Syndrome, Newborn | 0.12 | 1 | 0 | CTD_human |
Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
Ventricular Dysfunction, Left | 0.12 | 1 | 0 | CTD_human |
Costello syndrome (disorder) | 0.12 | 0 | 1 | CLINVAR |
Acute Coronary Syndrome | 0.12 | 1 | 0 | CTD_human |
Cardiomyopathy, Dilated, 1DD | 0.12 | 0 | 1 | CLINVAR |
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | 0.12 | 0 | 2 | CLINVAR |
Myocardial Infarction | 0.016346101 | 6 | 0 | LHGDN |
Left Ventricular Hypertrophy | 0.016088472 | 7 | 0 | BeFree_GAD_LHGDN |
Cardiomyopathy, Familial Idiopathic | 0.00554839 | 5 | 0 | BeFree_GAD |
Friedreich Ataxia | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Atherosclerosis | 0.00272435 | 1 | 0 | LHGDN |
Restrictive cardiomyopathy | 0.00272435 | 1 | 0 | LHGDN |
Cessation of life | 0.00272435 | 1 | 0 | LHGDN |
Cerebrovascular accident | 0.00272435 | 1 | 0 | LHGDN |
Coronary Artery Disease | 0.00272435 | 1 | 0 | LHGDN |
Cardiac Hypertrophy | 0.002367032 | 1 | 0 | GAD |
Familial dilated cardiomyopathy | 0.000814326 | 3 | 0 | BeFree |
Hyperlipoproteinemia Type IIa | 0.000814326 | 3 | 1 | BeFree |
Aortic Valve Stenosis | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Ischemic cardiomyopathy | 0.000271442 | 1 | 0 | BeFree |
cardiac event | 0.000271442 | 1 | 0 | BeFree |
Progressive Familial Heart Block, Type II | 0.000271442 | 1 | 0 | BeFree |
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