NFE2L2: Polycystic Ovarian Syndrome Database

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NFE2L2

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

NFE2L2

Aliases

HEBP1, IMDDHH, NRF2, Nrf-2

Entrez Gene ID

4780

Gene Name

Nuclear factor, erythroid 2 like 2

Chromosomal Location

2q31.2

HGNC ID

HGNC:7782

Summary

This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015]

e!Ensembl

Gene	ENSG00000116044
Transcript	ENST00000458603, ENST00000397063, ENST00000397062, ENST00000446151, ENST00000464747, ENST00000449627, ENST00000448782, ENST00000430047, ENST00000586532, ENST00000421929, ENST00000423513, ENST00000588123
Protein	ENSP00000416308, ENSP00000380253, ENSP00000380252, ENSP00000411575, ENSP00000467401, ENSP00000391590, ENSP00000400073, ENSP00000391291, ENSP00000464920, ENSP00000412191, ENSP00000410015, ENSP00000468089

Gene Ontology (GO)

Show/Hide all(40 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006366	Biological process	Transcription by RNA polymerase II	TAS	7937919
GO:0010499	Biological process	Proteasomal ubiquitin-independent protein catabolic process	IDA	19424503
GO:0010628	Biological process	Positive regulation of gene expression	IGI	22492997
GO:0016567	Biological process	Protein ubiquitination	IDA	15983046
GO:0034599	Biological process	Cellular response to oxidative stress	IBA	21873635
GO:0034599	Biological process	Cellular response to oxidative stress	NAS	22013210
GO:0034599	Biological process	Cellular response to oxidative stress	TAS	22934019
GO:0036003	Biological process	Positive regulation of transcription from RNA polymerase II promoter in response to stress	IMP	23043106
GO:0036499	Biological process	PERK-mediated unfolded protein response	TAS	22934019
GO:0043161	Biological process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	15983046
GO:0045454	Biological process	Cell redox homeostasis	IMP	29018201
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IBA	21873635
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IC	22492997
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	17015834
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IMP	18202225, 25190803
GO:0061419	Biological process	Positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IMP	24844779
GO:0070301	Biological process	Cellular response to hydrogen peroxide	IMP	23043106
GO:0071356	Biological process	Cellular response to tumor necrosis factor	IMP	18202225
GO:0071498	Biological process	Cellular response to fluid shear stress	IDA	25190803
GO:0071499	Biological process	Cellular response to laminar fluid shear stress	IMP	23043106
GO:1902176	Biological process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP	23043106
GO:1903071	Biological process	Positive regulation of ER-associated ubiquitin-dependent protein catabolic process	TAS	23800989
GO:1903206	Biological process	Negative regulation of hydrogen peroxide-induced cell death	IGI	22492997
GO:2000352	Biological process	Negative regulation of endothelial cell apoptotic process	IMP	23043106
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	18202225, 18554677, 22492997, 23043106
GO:0005737	Cellular component	Cytoplasm	IBA	21873635
GO:0005737	Cellular component	Cytoplasm	IDA	22492997
GO:0005829	Cellular component	Cytosol	IDA	23043106
GO:0000976	Molecular function	Transcription regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000976	Molecular function	Transcription regulatory region sequence-specific DNA binding	TAS	24252804
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	19274049
GO:0001102	Molecular function	RNA polymerase II activating transcription factor binding	IPI	23043106
GO:0003677	Molecular function	DNA binding	IDA	18554677
GO:0003700	Molecular function	DNA-binding transcription factor activity	IBA	21873635
GO:0003700	Molecular function	DNA-binding transcription factor activity	IDA	17015834
GO:0005515	Molecular function	Protein binding	IPI	16888629, 17015834, 18048326, 18692475, 18757741, 19706542, 21597468, 21988832, 25416956, 26700459, 28777872
GO:0019904	Molecular function	Protein domain specific binding	IPI	11256947
GO:0044212	Molecular function	Transcription regulatory region DNA binding	TAS	17015834

Protein Information

Protein Name

Nuclear factor erythroid 2-related factor 2, nuclear factor erythroid-derived 2-like 2

Function

Transcription factor that plays a key role in the response to oxidative stress: binds to antioxidant response (ARE) elements present in the promoter region of many cytoprotective genes, such as phase 2 detoxifying enzymes, and promotes their expression, thereby neutralizing reactive electrophiles (PubMed:11035812, PubMed:19489739, PubMed:29018201, PubMed:31398338). In normal conditions, ubiquitinated and degraded in the cytoplasm by the BCR(KEAP1) complex (PubMed:11035812, PubMed:15601839, PubMed:29018201). In response to oxidative stress, electrophile metabolites inhibit activity of the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2, heterodimerization with one of the small Maf proteins and binding to ARE elements of cytoprotective target genes (PubMed:19489739, PubMed:29590092). The NFE2L2/NRF2 pathway is also activated in response to selective autophagy: autophagy promotes interaction between KEAP1 and SQSTM1/p62 and subsequent inactivation of the BCR(KEAP1) complex, leading to NFE2L2/NRF2 nuclear accumulation and expression of cytoprotective genes (PubMed:20452972). May also be involved in the transcriptional activation of genes of the beta-globin cluster by mediating enhancer activity of hypersensitive site 2 of the beta-globin locus control region (PubMed:7937919).

UniProt

Q16236

PDB

2FLU, 3ZGC, 4IFL, 5WFV, 2LZ1

Pfam

Pfam Accession	Pfam ID
PF03131	bZIP_Maf

Pathways
	KEGG
	Protein processing in endoplasmic reticulum Pathways in cancer Hepatocellular carcinoma Fluid shear stress and atherosclerosis

Interactions

STRING	MINT	IntAct
ENSP00000368100	Q92878	Q92878

View interactions

Associated Diseases

Show/Hide all(11 )

Disease group	Disease Name	References
Cardiovascular Diseases
	Heart Failure	28373008
	Myocardial Failure	28373008
Digestive System Diseases
	Non-alcoholic Fatty Liver Disease	25294219
	Liver Fibrosis	23793039
	Liver Cirrhosis	23793039
	Cholestasis	20977460
	Liver Diseases	24813929, 22491424, 26958860, 22627062
	Fatty Liver	28555106
	Cholera Infantum	20404090
	Hepatitis	22491424, 24813929, 26958860, 22627062
	Gastrointestinal Diseases	20404090
Endocrine System Diseases
	Ovarian Failure	26247513
	Glomerulosclerosis	20103708
	Gonadotropin-Resistant Ovary Syndrome	26247513
	PCOS	30126412
Immune System Diseases
Immune System Diseases	Dermatitis	23564646
Neoplasms
	Liver Cancer	26619011, 22561517, 20722399
	Endometrial Cancer	26619011, 20530669
	Lung Cancer	26619011, 26482881, 22684020, 28330870
	Skin Cancer	18572023
	Prostate cancer	23441843, 20124447
	Carcinoma	18572023
	Pancreatic Neoplasm	21489257
	Esophagus Neoplasm	25151357
	Head Neoplasms	26619011
	Renal Cancer	26619011
	Bladder Cancer	26619011
Nutritional and Metabolic Diseases
	Hyperglycemia	20086057
	Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	29018201
Psychiatric/Brain disorders
Psychiatric/Brain disorders	Obstructive Sleep Apnea	27163713, 30159112
Renal Disorder
	Diabetic Nephropathy	20103708
	Kidney Insufficiency	24958931
	Kidney Failure	24958931
Reproductive disorders
	Ovarian Failure	26247513
	Preeclampsia	25667213
Respiratory Tract Diseases
Respiratory Tract Diseases	Pulmonary Fibrosis	23570914
Skin and Connective Tissue Diseases
Skin and Connective Tissue Diseases	Keratosis	20404090

References

PMID: 30126412

A novel and compact review on the role of oxidative stress in female reproduction.

Lu Jiayin, Wang Zixu, Cao Jing, Chen Yaoxing, Dong Yulan

Laboratory of Neurobiology, College of Animal Medicine, China Agricultural University, Haidian, Beijing, 100193, People's Republic of China.| Laboratory of Neurobiology, College of Animal Medicine, China Agricultural University, Haidian, Beijing, 100193, People's Republic of China.| Laboratory of Neurobiology, College of Animal Medicine, China Agricultural University, Haidian, Beijing, 100193, People's Republic of China.| Laboratory of Neurobiology, College of Animal Medicine, China Agricultural University, Haidian, Beijing, 100193, People's Republic of China. yxchen@cau.edu.cn.| Laboratory of Neurobiology, College of Animal Medicine, China Agricultural University, Haidian, Beijing, 100193, People's Republic of China. ylbcdong@cau.edu.cn.

Reprod Biol Endocrinol. 2018 Aug 20;16(1):80. doi: 10.1186/s12958-018-0391-5.

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