ESRRG (estrogen related receptor gamma)

symbol:
ESRRG
locus group:
protein-coding gene
location:
1q41
gene_family:
Nuclear hormone receptors
alias symbol:
NR3B3|ERRg|ERR-gamma
alias name:
None
entrez id:
2104
ensembl gene id:
ENSG00000196482
ucsc gene id:
uc001hld.2
refseq accession:
NM_206595
hgnc_id:
HGNC:3474
approved reserved:
1998-02-17
1q41
基因染色体位置图

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基因的碱基序列:[NCBI]
Loading Gene Browser...
ESRRG基因的碱基突变:           仅显示部分snp
rs700041       rs700042       rs730968       rs766158       rs766159       rs767641       rs830304       rs830305       rs830306       rs830307       rs830308       rs830309       rs830310       rs830311       rs830312       rs830313       rs830314      

ESRRG基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
ACGAGGAAGAACTTGAATGAG
58
GTACAATTCAGCTGATAGTTGC
58
GAAATACAAGAGCATGAAGCTG
58
TGCATGGAGTCTGAATTAGC
58
GAAATACAAGAGCATGAAGCTG
58
TGCATGGAGTCTGAATTAGC
58
AGAACCCAGAACGTAGCTG
59
CGACAGTGTTAGCGTAGGA
59
GAAATACAAGAGCATGAAGCTG
58
TGCATGGAGTCTGAATTAGC
58
GAAATACAAGAGCATGAAGCTG
58
TGCATGGAGTCTGAATTAGC
58
GAAATACAAGAGCATGAAGCTG
58
TGCATGGAGTCTGAATTAGC
58
CATAGCCAAAGAAACCGGC
60
AAATTGTCAGCTCTTGGCAG
59
GAAATACAAGAGCATGAAGCTG
58
TGCATGGAGTCTGAATTAGC
58
GAAATACAAGAGCATGAAGCTG
58
TGCATGGAGTCTGAATTAGC
58
转录因子
影响基因
影响类型
参考文献链接(PubMed)
ESRRG
NR0B1
Activation
NR0B1
ESRRG
Repression
SIRT1
ESRRG
Activation

ESRRG基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

ESRRG基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0003700
C9JU32 (UniProtKB)
IEA
GO:0003707
C9JU32 (UniProtKB)
IEA
GO:0005496
C9JU32 (UniProtKB)
IEA
GO:0005634
C9JU32 (UniProtKB)
IEA
GO:0006351
C9JU32 (UniProtKB)
IEA
GO:0006355
C9JU32 (UniProtKB)
IEA
GO:0008270
C9JU32 (UniProtKB)
IEA
GO:0043401
C9JU32 (UniProtKB)
IEA
GO:0043565
C9JU32 (UniProtKB)
IEA
GO:0000977
P62508 (UniProtKB)
IEA
GO:0001228
P62508 (UniProtKB)
IEA
GO:0003707
P62508 (UniProtKB)
IEA
GO:0003708
P62508 (UniProtKB)
IEA
GO:0005496
P62508 (UniProtKB)
IEA
GO:0005515
P62508 (UniProtKB)
IPI
GO:0005515
P62508 (UniProtKB)
IPI
GO:0005515
P62508 (UniProtKB)
IPI
GO:0005515
P62508 (UniProtKB)
IPI
GO:0005515
P62508 (UniProtKB)
IPI
GO:0005515
P62508 (UniProtKB)
IPI
GO:0005515
P62508 (UniProtKB)
IPI
GO:0005515
P62508 (UniProtKB)
IPI
GO:0005515
P62508 (UniProtKB)
IPI
GO:0005515
P62508 (UniProtKB)
IPI
GO:0005654
P62508 (UniProtKB)
TAS
GO:0006355
P62508 (UniProtKB)
IDA
GO:0006367
P62508 (UniProtKB)
TAS
GO:0008270
P62508 (UniProtKB)
IEA
GO:0043401
P62508 (UniProtKB)
IEA
GO:0045893
P62508 (UniProtKB)
ISS
GO:0045944
P62508 (UniProtKB)
IEA
GO:0048384
P62508 (UniProtKB)
IEA
GO:0050682
P62508 (UniProtKB)
ISS

可能调控 ESRRG基因的相关microRNA:     

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称
疾病名称 关系值 NofPmids NofSnps 来源
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

联系方式

山东省济南市章丘区文博路2号 齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼

电话: 0531-88819269

E-mail: product@genelibs.com

微信公众号

关注微信订阅号,实时查看信息,关注医学生物学动态。