Endometriosis Knowledgebase

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Gene id

4780

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

NFE2L2 Gene UCSC Ensembl

Aliases

HEBP1, IMDDHH, NRF2

Gene name

nuclear factor, erythroid 2 like 2

Alternate names

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

Gene location

2q31.2 (6180133: 6101786) Exons: 42 NC_000001.11

Gene summary(Entrez)

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]

OMIM

600492

Protein Summary

Protein general information

Q16236

Name: Nuclear factor erythroid 2-related factor 2 (NF-E2-related factor 2) (NFE2-related factor 2) (HEBP1) (Nuclear factor, erythroid derived 2, like 2)

Length: 605 Mass: 67,827

Tissue specificity: Widely expressed. Highest expression in adult muscle, kidney, lung, liver and in fetal muscle.

Sequence

MMDLELPPPGLPSQQDMDLIDILWRQDIDLGVSREVFDFSQRRKEYELEKQKKLEKERQEQLQKEQEKAFFAQLQ
LDEETGEFLPIQPAQHIQSETSGSANYSQVAHIPKSDALYFDDCMQLLAQTFPFVDDNEVSSATFQSLVPDIPGH
IESPVFIATNQAQSPETSVAQVAPVDLDGMQQDIEQVWEELLSIPELQCLNIENDKLVETTMVPSPEAKLTEVDN
YHFYSSIPSMEKEVGNCSPHFLNAFEDSFSSILSTEDPNQLTVNSLNSDATVNTDFGDEFYSAFIAEPSISNSMP
SPATLSHSLSELLNGPIDVSDLSLCKAFNQNHPESTAEFNDSDSGISLNTSPSVASPEHSVESSSYGDTLLGLSD
SEVEELDSAPGSVKQNGPKTPVHSSGDMVQPLSPSQGQSTHVHDAQCENTPEKELPVSPGHRKTPFTKDKHSSRL
EAHLTRDELRAKALHIPFPVEKIINLPVVDFNEMMSKEQFNEAQLALIRDIRRRGKNKVAAQNCRKRKLENIVEL
EQDLDHLKDEKEKLLKEKGENDKSLHLLKKQLSTLYLEVFSMLRDEDGKPYSPSEYSLQQTRDGNVFLVPKSKKP
DVKKN

Structural information

Protein Domains	bZIP. (497-560)
Interpro:	IPR004827 IPR004826 IPR029845 IPR008917
Prosite:	PS50217 PS00036
Pfam:	PF03131
PDB:	2FLU 2LZ1 3ZGC 4IFL
PDBsum:	2FLU 2LZ1 3ZGC 4IFL
DIP:	29971
MINT:
STRING:	ENSP00000380252;

Other Databases

GeneCards: NFE2L2; Malacards: NFE2L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000785	chromatin	IEA	cellular_component
GO:0000976	transcription regulatory region sequence-specific DNA binding	TAS	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	IEA	molecular_function
GO:0001102	RNA polymerase II activat ing transcription factor binding	IPI	molecular_function
GO:0001205	transcriptional activator activity, RNA polymerase II distal enhancer seque nce-specific binding	IEA	molecular_function
GO:0001221	transcription cofactor bi nding	IEA	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005813	centrosome	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0010499	proteasomal ubiquitin-ind ependent protein cataboli c process	IDA	biological_process
GO:0010628	positive regulation of ge ne expression	IGI	biological_process
GO:0016567	protein ubiquitination	IDA	biological_process
GO:0019904	protein domain specific b inding	IPI	molecular_function
GO:0030194	positive regulation of bl ood coagulation	IEA	biological_process
GO:0030968	endoplasmic reticulum unf olded protein response	ISS	biological_process
GO:0032993	protein-DNA complex	ISS	cellular_component
GO:0034599	cellular response to oxid ative stress	NAS	biological_process
GO:0034599	cellular response to oxid ative stress	TAS	biological_process
GO:0035690	cellular response to drug	IEA	biological_process
GO:0036003	positive regulation of tr anscription from RNA poly merase II promoter in res ponse to stress	IMP	biological_process
GO:0036091	positive regulation of tr anscription from RNA poly merase II promoter in res ponse to oxidative stress	IEA	biological_process
GO:0036499	PERK-mediated unfolded pr otein response	ISS	biological_process
GO:0036499	PERK-mediated unfolded pr otein response	TAS	biological_process
GO:0042149	cellular response to gluc ose starvation	IEA	biological_process
GO:0043161	proteasome-mediated ubiqu itin-dependent protein ca tabolic process	IDA	biological_process
GO:0044212	transcription regulatory region DNA binding	TAS	molecular_function
GO:0045454	cell redox homeostasis	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IC	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045995	regulation of embryonic d evelopment	IEA	biological_process
GO:0046326	positive regulation of gl ucose import	IEA	biological_process
GO:0070301	cellular response to hydr ogen peroxide	IMP	biological_process
GO:0071356	cellular response to tumo r necrosis factor	IMP	biological_process
GO:0071498	cellular response to flui d shear stress	IDA	biological_process
GO:0071499	cellular response to lami nar fluid shear stress	IMP	biological_process
GO:1902037	negative regulation of he matopoietic stem cell dif ferentiation	IEA	biological_process
GO:1902176	negative regulation of ox idative stress-induced in trinsic apoptotic signali ng pathway	IMP	biological_process
GO:1903071	positive regulation of ER -associated ubiquitin-dep endent protein catabolic process	TAS	biological_process
GO:1903206	negative regulation of hy drogen peroxide-induced c ell death	IGI	biological_process
GO:1903788	positive regulation of gl utathione biosynthetic pr ocess	IEA	biological_process
GO:2000121	regulation of removal of superoxide radicals	IEA	biological_process
GO:2000352	negative regulation of en dothelial cell apoptotic process	IMP	biological_process
GO:2000379	positive regulation of re active oxygen species met abolic process	IEA	biological_process
GO:0000785	chromatin	IEA	cellular_component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular_function
GO:0000976	transcription regulatory region sequence-specific DNA binding	TAS	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	IEA	molecular_function
GO:0001102	RNA polymerase II activat ing transcription factor binding	IPI	molecular_function
GO:0001205	transcriptional activator activity, RNA polymerase II distal enhancer seque nce-specific binding	IEA	molecular_function
GO:0001221	transcription cofactor bi nding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005813	centrosome	IDA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0010499	proteasomal ubiquitin-ind ependent protein cataboli c process	IDA	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0010628	positive regulation of ge ne expression	IGI	biological_process
GO:0016567	protein ubiquitination	IDA	biological_process
GO:0019904	protein domain specific b inding	IPI	molecular_function
GO:0030194	positive regulation of bl ood coagulation	IEA	biological_process
GO:0030968	endoplasmic reticulum unf olded protein response	IEA	biological_process
GO:0030968	endoplasmic reticulum unf olded protein response	ISS	biological_process
GO:0032993	protein-DNA complex	IEA	cellular_component
GO:0032993	protein-DNA complex	ISS	cellular_component
GO:0034599	cellular response to oxid ative stress	IEA	biological_process
GO:0034599	cellular response to oxid ative stress	IEA	biological_process
GO:0034599	cellular response to oxid ative stress	NAS	biological_process
GO:0034599	cellular response to oxid ative stress	TAS	biological_process
GO:0034976	response to endoplasmic r eticulum stress	IEA	biological_process
GO:0035690	cellular response to drug	IEA	biological_process
GO:0036003	positive regulation of tr anscription from RNA poly merase II promoter in res ponse to stress	IMP	biological_process
GO:0036091	positive regulation of tr anscription from RNA poly merase II promoter in res ponse to oxidative stress	IEA	biological_process
GO:0036499	PERK-mediated unfolded pr otein response	IEA	biological_process
GO:0036499	PERK-mediated unfolded pr otein response	ISS	biological_process
GO:0036499	PERK-mediated unfolded pr otein response	TAS	biological_process
GO:0042149	cellular response to gluc ose starvation	IEA	biological_process
GO:0043161	proteasome-mediated ubiqu itin-dependent protein ca tabolic process	IDA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0044212	transcription regulatory region DNA binding	TAS	molecular_function
GO:0045454	cell redox homeostasis	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IC	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045995	regulation of embryonic d evelopment	IEA	biological_process
GO:0046326	positive regulation of gl ucose import	IEA	biological_process
GO:0060548	negative regulation of ce ll death	IEA	biological_process
GO:0070301	cellular response to hydr ogen peroxide	IMP	biological_process
GO:0071356	cellular response to tumo r necrosis factor	IMP	biological_process
GO:0071498	cellular response to flui d shear stress	IDA	biological_process
GO:0071499	cellular response to lami nar fluid shear stress	IMP	biological_process
GO:1902037	negative regulation of he matopoietic stem cell dif ferentiation	IEA	biological_process
GO:1902176	negative regulation of ox idative stress-induced in trinsic apoptotic signali ng pathway	IMP	biological_process
GO:1903071	positive regulation of ER -associated ubiquitin-dep endent protein catabolic process	TAS	biological_process
GO:1903206	negative regulation of hy drogen peroxide-induced c ell death	IGI	biological_process
GO:1903788	positive regulation of gl utathione biosynthetic pr ocess	IEA	biological_process
GO:2000121	regulation of removal of superoxide radicals	IEA	biological_process
GO:2000352	negative regulation of en dothelial cell apoptotic process	IMP	biological_process
GO:2000379	positive regulation of re active oxygen species met abolic process	IEA	biological_process
GO:0000976	transcription regulatory region sequence-specific DNA binding	TAS	molecular_function
GO:0001102	RNA polymerase II activat ing transcription factor binding	IPI	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005813	centrosome	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0010499	proteasomal ubiquitin-ind ependent protein cataboli c process	IDA	biological_process
GO:0010628	positive regulation of ge ne expression	IGI	biological_process
GO:0016567	protein ubiquitination	IDA	biological_process
GO:0019904	protein domain specific b inding	IPI	molecular_function
GO:0030968	endoplasmic reticulum unf olded protein response	ISS	biological_process
GO:0032993	protein-DNA complex	ISS	cellular_component
GO:0034599	cellular response to oxid ative stress	NAS	biological_process
GO:0034599	cellular response to oxid ative stress	TAS	biological_process
GO:0036003	positive regulation of tr anscription from RNA poly merase II promoter in res ponse to stress	IMP	biological_process
GO:0036499	PERK-mediated unfolded pr otein response	ISS	biological_process
GO:0036499	PERK-mediated unfolded pr otein response	TAS	biological_process
GO:0043161	proteasome-mediated ubiqu itin-dependent protein ca tabolic process	IDA	biological_process
GO:0044212	transcription regulatory region DNA binding	TAS	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IC	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0070301	cellular response to hydr ogen peroxide	IMP	biological_process
GO:0071356	cellular response to tumo r necrosis factor	IMP	biological_process
GO:0071498	cellular response to flui d shear stress	IDA	biological_process
GO:0071499	cellular response to lami nar fluid shear stress	IMP	biological_process
GO:1902176	negative regulation of ox idative stress-induced in trinsic apoptotic signali ng pathway	IMP	biological_process
GO:1903071	positive regulation of ER -associated ubiquitin-dep endent protein catabolic process	TAS	biological_process
GO:1903206	negative regulation of hy drogen peroxide-induced c ell death	IGI	biological_process
GO:2000352	negative regulation of en dothelial cell apoptotic process	IMP	biological_process

KEGG pathways

hsa04141  Protein processing in endoplasmic reticulum
hsa05225  Hepatocellular carcinoma
hsa05418  Fluid shear stress and atherosclerosis
hsa05200  Pathways in cancer

Diseases

Associated diseases	References
Endometriosis	INFBASE28457937
Immunodeficiency, developmental delay, and hypohomocysteinemia	OMIM600492
Hepatocellular carcinoma	KEGGH00048

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28457937	Endometrio sis			61 (31 with his tologically-pro ven endometrios is, 30 disease- free women take n as controls)		NRF2 GCL	Show abstract