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The protein encoded by this gene belongs to the iodothyronine deiodinase family. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It is highly expressed in the thyroid, and may contribute significantly to the relative increase in thyroidal T3 production in patients with Graves disease and thyroid adenomas. This protein contains selenocysteine (Sec) residues encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质属于脱碘碘酶家族。它由外环脱碘(ORD)生物活性的3,3‘,5-三碘甲状腺氨酸(T3)转换激素原甲状腺素(T4)激活的甲状腺激素。它是在甲状腺中高表达,并可能在Graves病患者和甲状腺腺瘤甲状腺T3产量相对增加显著贡献。这种蛋白质包含由UGA密码子,通常信号翻译终止编码的硒代半胱氨酸(SEC)的残留物。含仲基因的3‘非编码区有一个共同的茎环结构,所述秒插入序列(SECIS),这是必要的识别UGA作为二段密码子,而不是作为一个停止信号。在多个转录剪接变异体导致编码不同亚型。 [由RefSeq的,2008年7月提供]
DIO2基因(以及对应的蛋白质)的细胞分布位置:
DIO2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Child Development Disorders, Pervasive | 0.12 | 1 | 0 | CTD_human |
Endometriosis | 0.12 | 1 | 0 | CTD_human |
Mesothelioma | 0.12 | 1 | 0 | CTD_human |
Thyroid Diseases | 0.12 | 1 | 0 | CTD_human |
Hypertensive disease | 0.010096888 | 3 | 0 | BeFree_GAD_LHGDN |
Degenerative polyarthritis | 0.009087065 | 7 | 1 | BeFree_GAD_LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.008544182 | 5 | 1 | BeFree_GAD_LHGDN |
Insulin Resistance | 0.004734064 | 2 | 0 | GAD |
Graves Disease | 0.003452799 | 4 | 1 | BeFree_GAD |
Hypothyroidism | 0.003452799 | 4 | 1 | BeFree_GAD |
Thyroid Neoplasm | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Mental Retardation | 0.002909916 | 2 | 0 | BeFree_GAD |
Obesity | 0.002909916 | 3 | 1 | BeFree_GAD |
Choriocarcinoma | 0.00272435 | 1 | 0 | LHGDN |
Euthyroid Sick Syndromes | 0.00272435 | 1 | 0 | LHGDN |
Polyostotic fibrous dysplasia | 0.00272435 | 1 | 0 | LHGDN |
Pituitary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Intellectual Disability | 0.00272435 | 1 | 0 | LHGDN |
Bipolar Disorder | 0.002638474 | 1 | 0 | BeFree_GAD |
Metabolic Syndrome X | 0.002638474 | 1 | 1 | BeFree_GAD |
Endocrine System Diseases | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Major Depressive Disorder | 0.002367032 | 1 | 0 | GAD |
Osteoarthritis of hip | 0.000542884 | 2 | 2 | BeFree |
Kashin-Beck Disease | 0.000542884 | 2 | 5 | BeFree |
Goiter | 0.000271442 | 1 | 0 | BeFree |
Lipodystrophy | 0.000271442 | 1 | 0 | BeFree |
Thyroid Gland Follicular Adenoma | 0.000271442 | 1 | 0 | BeFree |
Follicular thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Osteoarthritis of the hand | 0.000271442 | 1 | 0 | BeFree |
Osteoarthritis of distal interphalangeal joint | 0.000271442 | 1 | 0 | BeFree |
Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathies | 0.000271442 | 1 | 0 | BeFree |
Lipoatrophy | 0.000271442 | 1 | 0 | BeFree |
Differentiated Thyroid Gland Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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