NCOR2(核受体共抑制因子2)属于核受体共抑制因子(NCOR)基因家族,该家族还包括NCOR1,它们的主要功能是作为转录共抑制因子,通过与核受体(如甲状腺激素受体、视黄酸受体等)结合来抑制靶基因的转录。NCOR2也被称为SMRT( silencing mediator of retinoid and thyroid hormone receptors),其共性是通过招募组蛋白去乙酰化酶(HDACs)等染色质修饰酶来改变染色质结构,从而抑制基因表达。NCOR2在多种组织中广泛表达,参与调控发育、代谢、免疫和神经系统功能。其表达产物通过与核受体结合,在未配体状态下抑制靶基因的转录,而在配体结合后解离,允许基因激活。NCOR2的突变可能导致其功能丧失或异常,影响核受体信号通路,与多种疾病相关,包括癌症、代谢综合征和神经发育障碍。例如,NCOR2的突变或表达异常可能扰乱甲状腺激素或视黄酸信号,导致发育缺陷或代谢异常。在癌症中,NCOR2的缺失或突变可能解除对促增殖基因的抑制,促进肿瘤发生。过表达NCOR2可能过度抑制核受体靶基因,影响细胞分化或代谢平衡,而降低表达则可能导致靶基因的异常激活,扰乱正常生理过程。NCOR2还与其他转录因子(如PLZF和BCL6)相互作用,扩展其调控网络。在神经系统中,NCOR2参与神经元分化和突触可塑性,其异常表达可能与神经退行性疾病或精神障碍有关。此外,NCOR2在免疫调节中也发挥作用,影响炎症反应和免疫细胞功能。该基因的调控异常可能通过表观遗传机制影响多种疾病的发生发展。
This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011]
这个基因编码核受体辅抑制介导某些靶基因的转录沉默。所编码的蛋白质是一个家族甲状腺激素和视黄酸受体相关的辅阻遏的一个成员。该蛋白质用作多亚基复合物包括组蛋白脱乙酰修改染色质结构,以防止靶基因的基础转录活性的一部分。该基因的异常表达与某些癌症相关联。在多个备选的转录剪接变异体导致编码不同亚型。[由RefSeq的,2011年4月提供]
NCOR2基因(以及对应的蛋白质)的细胞分布位置:
NCOR2基因的本体(GO)信息:
名称 |
---|
4330 Notch signaling pathway [PATH:hsa04330] |
5169 Epstein-Barr virus infection [PATH:hsa05169] |
名称 |
---|
Chromatin modifying enzymes |
Chromatin organization |
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants |
Constitutive Signaling by NOTCH1 PEST Domain Mutants |
Developmental Biology |
Disease |
Diseases of signal transduction |
Downregulation of SMAD2/3:SMAD4 transcriptional activity |
Fatty acid, triacylglycerol, and ketone body metabolism |
Gene Expression |
Generic Transcription Pathway |
HDACs deacetylate histones |
Metabolism |
Metabolism of lipids and lipoproteins |
NOTCH1 Intracellular Domain Regulates Transcription |
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) |
Signaling by NOTCH |
Signaling by NOTCH1 |
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer |
Signaling by NOTCH1 in Cancer |
Signaling by NOTCH1 PEST Domain Mutants in Cancer |
Signaling by TGF-beta Receptor Complex |
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer |
Transcriptional regulation of white adipocyte differentiation |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cocaine Dependence | 0.12 | 1 | 1 | GWASCAT |
Myelofibrosis | 0.08 | 0 | 0 | MGD |
Malignant neoplasm of breast | 0.009815515 | 12 | 0 | BeFree_GAD |
Mammary Neoplasms | 0.008715934 | 5 | 0 | BeFree_LHGDN |
Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Breast Carcinoma | 0.002714419 | 10 | 0 | BeFree |
Degenerative polyarthritis | 0.002638474 | 2 | 0 | BeFree_GAD |
Bipolar Disorder | 0.002638474 | 1 | 0 | BeFree_GAD |
HIV Infections | 0.002638474 | 1 | 0 | BeFree_GAD |
Cerebrovascular accident | 0.002367032 | 1 | 0 | GAD |
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