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The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质属于肌动蛋白家族,其是高度保守的,在细胞的运动,结构和完整性方面发挥作用的蛋白质。 α,β和γ肌动蛋白同种型已经确定,用α-肌动蛋白作为收缩装置的主要成分,而β和γ肌动蛋白参与细胞运动的调节。此肌动蛋白是在骨骼肌中发现的α-肌动蛋白。在该基因导致主动脉瘤家族胸椎类型6.多重选择性剪接的变体的缺陷,编码相同的蛋白质,也已确定。 [由RefSeq的,2008年11月提供]
ACTA2基因(以及对应的蛋白质)的细胞分布位置:
ACTA2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME | 0.360271442 | 2 | 1 | BeFree_CLINVAR_ORPHANET_UNIPROT |
Aortic Aneurysm, Familial Thoracic 6 | 0.36 | 3 | 4 | CLINVAR_CTD_human_UNIPROT |
MOYAMOYA DISEASE 5 | 0.24 | 1 | 1 | CLINVAR_UNIPROT |
Aortic Aneurysm, Thoracic | 0.125624334 | 13 | 0 | BeFree_CTD_human_GAD |
Moyamoya Disease | 0.121628651 | 6 | 0 | BeFree_ORPHANET |
Moyamoya disease 1 | 0.121085767 | 4 | 0 | BeFree_ORPHANET |
Myocardial Infarction | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Colonic Neoplasms | 0.12 | 1 | 0 | CTD_human |
Endometriosis | 0.12 | 1 | 0 | CTD_human |
Focal glomerulosclerosis | 0.12 | 1 | 0 | CTD_human |
Hepatitis, Chronic | 0.12 | 1 | 0 | CTD_human |
Ischemia | 0.12 | 1 | 0 | CTD_human |
Kidney Diseases | 0.12 | 1 | 0 | CTD_human |
Chronic Lymphocytic Leukemia | 0.12 | 1 | 1 | GWASCAT |
Liver Cirrhosis | 0.12 | 2 | 0 | CTD_human |
Liver diseases | 0.12 | 1 | 0 | CTD_human |
Malignant neoplasm of lung | 0.12 | 1 | 1 | GWASCAT |
Nephrogenic Fibrosing Dermopathy | 0.12 | 1 | 0 | CTD_human |
Copper-Overload Cirrhosis | 0.12 | 1 | 0 | CTD_human |
Aortic Aneurysm | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Marfan Syndrome | 0.002909916 | 3 | 0 | BeFree_GAD |
Loeys-Dietz Syndrome | 0.002909916 | 3 | 0 | BeFree_GAD |
Osteosarcoma | 0.00272435 | 1 | 0 | LHGDN |
Aneurysm, Dissecting | 0.002367032 | 1 | 0 | GAD |
Lung Neoplasms | 0.002367032 | 1 | 1 | GAD |
Vascular Diseases | 0.001900093 | 7 | 1 | BeFree |
Cerebrovascular accident | 0.001085767 | 4 | 0 | BeFree |
Ischemic stroke | 0.001085767 | 4 | 0 | BeFree |
Aneurysm | 0.000814326 | 3 | 0 | BeFree |
Cardiomyopathy, Dilated | 0.000814326 | 3 | 0 | BeFree |
Hypertrophic Cardiomyopathy | 0.000814326 | 3 | 0 | BeFree |
Coronary Arteriosclerosis | 0.000814326 | 3 | 0 | BeFree |
Coronary heart disease | 0.000814326 | 3 | 0 | BeFree |
Congenital aneurysm of ascending aorta | 0.000814326 | 3 | 0 | BeFree |
Coronary Artery Disease | 0.000814326 | 3 | 0 | BeFree |
Ischemic Cerebrovascular Accident | 0.000814326 | 3 | 0 | BeFree |
Patent ductus arteriosus | 0.000542884 | 2 | 0 | BeFree |
Atrial Septal Defects | 0.000542884 | 2 | 0 | BeFree |
Mydriasis | 0.000542884 | 2 | 0 | BeFree |
Aortic aneurysm without mention of rupture NOS | 0.000542884 | 2 | 0 | BeFree |
Dissection of aorta | 0.000542884 | 2 | 0 | BeFree |
Dissecting aneurysm of the thoracic aorta | 0.000542884 | 2 | 0 | BeFree |
Arteriopathic disease | 0.000542884 | 2 | 1 | BeFree |
Cardiomyopathies | 0.000542884 | 2 | 0 | BeFree |
Cardiomyopathy, Hypertrophic, Familial | 0.000542884 | 2 | 0 | BeFree |
Mydriasis, Congenital | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Aortic Diseases | 0.000271442 | 1 | 0 | BeFree |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Fibromuscular Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Heart Septal Defects | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Prune Belly Syndrome | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
Congenital anomaly of cerebrovascular system | 0.000271442 | 1 | 0 | BeFree |
Myopathies, Nemaline | 0.000271442 | 1 | 0 | BeFree |
Metastatic malignant neoplasm to brain | 0.000271442 | 1 | 0 | BeFree |
acute aortic dissection | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung, stage IV | 0.000271442 | 1 | 0 | BeFree |
Aortic aneurysm and dissection | 0.000271442 | 1 | 0 | BeFree |
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