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This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
[中文简述(自动翻译):]  这个基因编码神经钙(RCAN)蛋白家族的调节器的一个成员。这些蛋白质通过结合到钙调A的催化结构域,抑制转录因子NFATC1的钙调磷酸酶介导的核易位发挥许多生理过程的作用。该基因在皮肤成纤维细胞中的表达是甲状腺激素上调,并且所编码的蛋白质也可起到内皮细胞功能和血管生成的作用。编码多种亚型选择性剪接的转录物变体已经观察到这种基因。 [由RefSeq的,2011年10月提供]
RCAN2基因(以及对应的蛋白质)的细胞分布位置:
RCAN2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Down Syndrome | 0.00272435 | 1 | 0 | LHGDN |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Absence Epilepsy | 0.000271442 | 1 | 0 | BeFree |
DOWN SYNDROME CRITICAL REGION | 0.000271442 | 1 | 0 | BeFree |
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