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Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]
[中文简述(自动翻译):] 肌动蛋白是高度保守的那些涉及各类细胞运动和在维持细胞骨架蛋白。三种类型的肌动蛋白,α,β和γ,已在脊椎动物已确定。阿尔法肌动蛋白在肌肉组织中发现,并且是收缩装置的主要成分。的β和γ肌动蛋白共同存在于大多数细胞类型的细胞骨架的成分和内部细胞运动的介质。该基因编码肌动蛋白伽玛2;在肠溶组织中发现的一个平滑肌肌动蛋白。在多个转录剪接变异体结果不同编码的亚型。基于相似的肽相关肌动蛋白的裂解,该基因的成熟蛋白是通过除去两个N-末端肽的形成。[通过的RefSeq,2010年12月提供]
ACTG2基因(以及对应的蛋白质)的细胞分布位置:
ACTG2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Megacystis microcolon intestinal hypoperistalsis syndrome | 0.240542884 | 2 | 0 | BeFree_CTD_human_ORPHANET |
Visceral Myopathy, Familial | 0.240271442 | 1 | 0 | BeFree_CTD_human_ORPHANET |
Colonic Neoplasms | 0.12 | 1 | 0 | CTD_human |
Visceral Myopathy | 0.12 | 3 | 0 | UNIPROT |
Megaduodenum and/or Megacystis | 0.12 | 0 | 13 | CLINVAR |
Cholestasis | 0.00272435 | 1 | 0 | LHGDN |
Diabetic Nephropathy | 0.00272435 | 1 | 0 | LHGDN |
Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
Pre-Eclampsia | 0.00272435 | 1 | 0 | LHGDN |
Alzheimer's Disease | 0.000814326 | 3 | 0 | BeFree |
Asthma | 0.000814326 | 3 | 0 | BeFree |
Adrenocortical carcinoma | 0.000814326 | 3 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
Agenesis of corpus callosum | 0.000542884 | 2 | 0 | BeFree |
Colorectal cancer metastatic | 0.000542884 | 2 | 0 | BeFree |
Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
leiomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
Leprosy | 0.000271442 | 1 | 0 | BeFree |
Chronic Obstructive Airway Disease | 0.000271442 | 1 | 0 | BeFree |
Malaria | 0.000271442 | 1 | 0 | BeFree |
Malaria, Falciparum | 0.000271442 | 1 | 0 | BeFree |
Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
Parkinson Disease | 0.000271442 | 1 | 0 | BeFree |
Pituitary Diseases | 0.000271442 | 1 | 0 | BeFree |
Deep Vein Thrombosis | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
Neuropathy | 0.000271442 | 1 | 0 | BeFree |
Dementia | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Congenital dilatation of bladder | 0.000271442 | 1 | 0 | BeFree |
Subfertility | 0.000271442 | 1 | 0 | BeFree |
Atypical teratoid/rhabdoid tumor | 0.000271442 | 1 | 0 | BeFree |
Mild cognitive disorder | 0.000271442 | 1 | 1 | BeFree |
Disorder of smooth muscle | 0.000271442 | 1 | 0 | BeFree |
LATERAL MENINGOCELE SYNDROME | 0.000271442 | 1 | 0 | BeFree |
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