ESRRG(雌激素相关受体γ)属于核受体超家族中的雌激素相关受体(ERR)家族,该家族包括ESRRA(ERRα)、ESRRB(ERRβ)和ESRRG(ERRγ)三个成员。这些受体不依赖雌激素配体激活,而是通过结合特定的DNA反应元件调控靶基因表达,主要参与能量代谢、线粒体功能、细胞增殖和分化等过程。ESRRG在多种组织中表达,尤其在代谢活跃的组织如心脏、骨骼肌、大脑和肾脏中高表达,其功能与维持能量稳态密切相关。ESRRG通过调节糖代谢、脂肪酸氧化和线粒体生物合成相关基因(如PGC-1α)来影响细胞能量供应,尤其在心脏和肌肉中发挥关键作用。研究表明,ESRRG突变或表达异常可能导致代谢紊乱,例如与2型糖尿病、肥胖和某些癌症(如乳腺癌和前列腺癌)的发展相关。ESRRG过表达可能增强线粒体功能和氧化代谢,但过度激活可能促进某些肿瘤细胞的增殖和存活;而ESRRG表达降低则可能导致能量代谢障碍,影响心脏和肌肉功能,甚至引发心力衰竭或肌营养不良。此外,ESRRG在神经系统中也发挥作用,其表达异常可能与神经退行性疾病如帕金森病有关。ERR家族成员的共性是作为转录调控因子,参与能量代谢和细胞命运决定,尽管它们功能相似,但在组织分布和靶基因选择上存在差异。ESRRG因其在代谢调控中的核心地位,成为代谢性疾病和癌症治疗的潜在靶点。
This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]
该基因编码的雌激素受体相关受体(ESRR)家族的成员,属于核激素受体超家族。在ESRR家人共享的所有成员几乎相同的DNA结合结构域,这是两个C4型锌指结构的。该ESRR成员是孤儿核受体;它们结合到雌激素反应元件和类固醇生成因子1反应元件,并激活由在没有任何配位体的两个应答元件控制的基因。该家庭ESRR是密切相关的雌激素受体(ER)的家庭。它们共享的靶基因,共同调节和启动子,和通过靶向同一组的基因中,ESRRs似乎以各种方式对ER介导的雌激素反应干涉。据报道,由该基因的功能编码的DNA胞嘧啶-5-甲基转移通过直接结合在DNMT1启动子其响应元件1(DNMT1)的表达的转录激活的家族成员,调节细胞增殖和雌激素信号在乳腺癌和带负骨形态发生蛋白2诱导的成骨细胞分化和骨形成调节。多个可变剪接转录物变体已被确定,其主要区别在5‘端和一些其编码蛋白同种型的N-末端区不同的。 [由RefSeq的,2011年8月提供]
ESRRG基因(以及对应的蛋白质)的细胞分布位置:
ESRRG基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Mean blood pressure | 0.12 | 1 | 1 | GWASCAT |
| Cardiac Hypertrophy | 0.12 | 1 | 1 | GWASCAT |
| Malignant neoplasm of breast | 0.003452799 | 5 | 0 | BeFree_GAD |
| Anoxia | 0.00272435 | 1 | 0 | LHGDN |
| Adenocarcinoma | 0.00272435 | 1 | 0 | LHGDN |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.002638474 | 2 | 1 | BeFree_GAD |
| Disorder of eye | 0.002367032 | 1 | 1 | GAD |
| Colorectal Cancer | 0.002367032 | 1 | 0 | GAD |
| Carcinoma in situ of eye | 0.002367032 | 1 | 1 | GAD |
| Malignant neoplasm of occipital lobe | 0.002367032 | 1 | 1 | GAD |
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