1. Gene
  2. ESRRG - estrogen related receptor gamma Gene

ESRRG - estrogen related receptor gamma Gene

中文名称:雌激素相关受体γ

种属: Homo sapiens

同用名: ERR3; ERRg; NR3B3; ERRgamma; ERR-gamma

基因 ID: 2104 | 基因类型: protein coding

关于 ESRRG

Cytogenetic location: 1q41 Genomic coordinates (GRCh38): 1:216,503,246-217,137,702 (from NCBI)

This gene has 25 transcripts (splice variants), 136 orthologues and 8 paralogues. Biased expression in kidney (RPKM 4.4), stomach (RPKM 3.1) and 12 other tissues.

功能概要

该基因编码雌激素受体相关受体 (ESRR) 家族的成员,该家族属于核激素受体超家族。 ESRR 家族的所有成员共享一个几乎相同的 DNA 结合域,该域由两个 C4 型锌指基序组成。 ESRR 成员是孤儿核受体;它们与雌激素反应元件和类固醇生成因子 1 反应元件结合,并在没有任何配体的情况下激活由这两种反应元件控制的基因。 ESRR 家族与雌激素受体 (ER) 家族密切相关。它们共享靶基因、协同调节因子和启动子,并且通过靶向同一组基因,ESRR 似乎以各种方式干扰 ER 介导的雌激素反应。据报道,由该基因编码的家族成员通过直接结合 DNMT1 启动子中的反应元件,作为 DNA 胞嘧啶 5-甲基转移酶 1 (DNMT1) 表达的转录激活因子,调节乳腺癌中的细胞增殖和雌激素信号传导, 并负向调节骨形态发生蛋白 2 诱导的成骨细胞分化和骨形成。已经鉴定出多个选择性剪接的转录物变体,它们主要在 5' 端不同,其中一些编码在 N 末端区域不同的蛋白质同种型。[RefSeq 提供,2011 年 8 月]

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]

ESRRG 基因产物(56)

mRNA Protein Name
NM_001134285.3 NP_001127757.1 estrogen-related receptor gamma isoform 2
NM_001243514.2 NP_001230443.1 estrogen-related receptor gamma isoform 2
XM_047449391.1 XP_047305347.1 estrogen-related receptor gamma isoform X7
NM_001243510.3 NP_001230439.1 estrogen-related receptor gamma isoform 2
XM_047449344.1 XP_047305300.1 estrogen-related receptor gamma isoform X3
XM_047449402.1 XP_047305358.1 estrogen-related receptor gamma isoform X8
NM_001243519.2 NP_001230448.1 estrogen-related receptor gamma isoform 2
XM_017000625.2 XP_016856114.1 estrogen-related receptor gamma isoform X1
NM_001243518.2 NP_001230447.1 estrogen-related receptor gamma isoform 6
NM_001243506.2 NP_001230435.1 estrogen-related receptor gamma isoform 4
NM_001243507.2 NP_001230436.1 estrogen-related receptor gamma isoform 5
XM_017000631.3 XP_016856120.1 estrogen-related receptor gamma isoform X8
XM_011509268.3 XP_011507570.1 estrogen-related receptor gamma isoform X3
NM_001438.4 NP_001429.2 estrogen-related receptor gamma isoform 1
NM_001243511.3 NP_001230440.1 estrogen-related receptor gamma isoform 2
XM_047449389.1 XP_047305345.1 estrogen-related receptor gamma isoform X5
NM_001243512.1 NP_001230441.1 estrogen-related receptor gamma isoform 2
XM_047449385.1 XP_047305341.1 estrogen-related receptor gamma isoform X4
XM_047449371.1 XP_047305327.1 estrogen-related receptor gamma isoform X3
NM_001350122.2 NP_001337051.1 estrogen-related receptor gamma isoform 2
XM_047449368.1 XP_047305324.1 estrogen-related receptor gamma isoform X3
NM_001243515.2 NP_001230444.1 estrogen-related receptor gamma isoform 2
XM_047449397.1 XP_047305353.1 estrogen-related receptor gamma isoform X8
XM_017000634.3 XP_016856123.1 estrogen-related receptor gamma isoform X8
XM_047449395.1 XP_047305351.1 estrogen-related receptor gamma isoform X8
XM_047449393.1 XP_047305349.1 estrogen-related receptor gamma isoform X7
XM_047449351.1 XP_047305307.1 estrogen-related receptor gamma isoform X3
XM_047449396.1 XP_047305352.1 estrogen-related receptor gamma isoform X8
XM_047449390.1 XP_047305346.1 estrogen-related receptor gamma isoform X6
NM_001350123.2 NP_001337052.1 estrogen-related receptor gamma isoform 2
XM_047449403.1 XP_047305359.1 estrogen-related receptor gamma isoform X8
NM_001350125.2 NP_001337054.1 estrogen-related receptor gamma isoform 2
XM_017000624.3 XP_016856113.1 estrogen-related receptor gamma isoform X1
NM_206594.3 NP_996317.1 estrogen-related receptor gamma isoform 2
XM_011509267.1 XP_011507569.1 estrogen-related receptor gamma isoform X3
XM_047449362.1 XP_047305318.1 estrogen-related receptor gamma isoform X3
XM_011509265.4 XP_011507567.1 estrogen-related receptor gamma isoform X1
XM_017000623.3 XP_016856112.1 estrogen-related receptor gamma isoform X1
XM_047449394.1 XP_047305350.1 estrogen-related receptor gamma isoform X7
XM_047449392.1 XP_047305348.1 estrogen-related receptor gamma isoform X7
NM_001243509.2 NP_001230438.1 estrogen-related receptor gamma isoform 2
XM_047449307.1 XP_047305263.1 estrogen-related receptor gamma isoform X1
XM_011509269.3 XP_011507571.1 estrogen-related receptor gamma isoform X3
NM_001243505.2 NP_001230434.1 estrogen-related receptor gamma isoform 3
XM_017000636.3 XP_016856125.1 estrogen-related receptor gamma isoform X8
NM_001243513.1 NP_001230442.1 estrogen-related receptor gamma isoform 2
XM_017000637.2 XP_016856126.1 estrogen-related receptor gamma isoform X8
XM_047449398.1 XP_047305354.1 estrogen-related receptor gamma isoform X8
NM_001350124.2 NP_001337053.1 estrogen-related receptor gamma isoform 2
NM_206595.3 NP_996318.1 estrogen-related receptor gamma isoform 2
XM_011509266.4 XP_011507568.1 estrogen-related receptor gamma isoform X2
XM_017000632.3 XP_016856121.1 estrogen-related receptor gamma isoform X8
XM_017000621.3 XP_016856110.1 estrogen-related receptor gamma isoform X1
XM_047449401.1 XP_047305357.1 estrogen-related receptor gamma isoform X8
XM_017000622.2 XP_016856111.1 estrogen-related receptor gamma isoform X1
XM_011509271.3 XP_011507573.1 estrogen-related receptor gamma isoform X7
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10428842 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
23836911 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ESRRG 蛋白结构

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (127 - 194)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (251 - 444)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 458 a.a.
蛋白主名 其他名称

estrogen-related receptor gamma

ERR gamma-2

estrogen receptor-related protein 3

nuclear receptor subfamily 3 group B member 3

ESRRG 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra ESRRG P62508 KIFC3 Homo sapiens Q9BVG8
Validated Y2H
25416956
Intra ESRRG P62508 NUP160 Homo sapiens Q12769
Validated Y2H
25416956
Intra ESRRG P62508 NUP160 Homo sapiens Q12769
Y2H Prey Pooling
25416956
Intra ESRRG P62508 DEUP1 Homo sapiens Q05D60
Y2H Array
25416956
Intra ESRRG P62508 PPARGC1A Homo sapiens Q9UBK2
Pull Down
18063693
Intra ESRRG P62508 PPARGC1A Homo sapiens Q9UBK2
SPR
19914244
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Amelogenesis Imperfecta, Type Ig

Enamel-Renal Syndrome

Ers

Amelogenesis Imperfecta Type 1g

AI1G

Enamel-Renal-Gingival Syndrome

Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome

Aigfs

Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis

Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis

Amelogenesis Imperfecta Type Ig

Amelogenesis Imperfecta-Nephrocalcinosis Syndrome

Amelogenesis Imperfecta 1g

Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis

Amelogenesis Imperfecta Nephrocalcinosis

Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Teeth Hard Tissue Disease
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Felis catus ESRRG VGNC VGNC:61969
Macaca mulatta ESRRG VGNC VGNC:72435
Canis familiaris ESRRG VGNC VGNC:40481
Bos taurus ESRRG VGNC VGNC:28610
Mus musculus ESRRG MGD MGI:1347056
Rattus norvegicus ESRRG RGD RGD:1303236