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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NFE2L2 Gene

protein-coding GIFtS: 66
GCID: GC02M178092

Nuclear Factor, Erythroid 2-Like 2

(Previous name: nuclear factor (erythroid-derived 2)-like 2)

Alzheimer's & Parkinson's Diseases Congress

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Nuclear Factor, Erythroid 2-Like 2¹ ²		HEBP1² ³
NF-E2-Related Factor 2¹ ² ³		NFE2-Related Factor 2² ³
NRF2² ³ ⁵		Nuclear Factor Erythroid 2-Related Factor 2²
Nuclear Factor (Erythroid-Derived 2)-Like 2¹ ²		Nuclear Factor Erythroid-Derived 2-Like 2²
Nuclear Factor, Erythroid Derived 2, Like 2² ³

External Ids:	HGNC: 7782¹	Entrez Gene: 4780²	Ensembl: ENSG00000116044⁷	OMIM: 600492⁵	UniProtKB: Q16236³

ORGUL members:
	NONCODE¹⁴:n407502 n345555 n344632

Export aliases for NFE2L2 gene to outside databases

Previous GC identifers: GC02M176157 GC02M176766 GC02M178059 GC02M178297 GC02M177920 GC02M177803 GC02M169966

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NFE2L2 Gene:

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

found for this gene. (provided by RefSeq, Jan 2012)

GeneCards Summary for NFE2L2 Gene:

NFE2L2 (nuclear factor, erythroid 2-like 2) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with NFE2L2 include papillary adenocarcinoma, and hepatoblastoma. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein domain specific binding. An important paralog of this gene is BACH2.

UniProtKB/Swiss-Prot: NF2L2_HUMAN, Q16236

Function: Transcription activator that binds to antioxidant response (ARE) elements in the promoter regions of

target genes. Important for the coordinated up-regulation of genes in response to oxidative stress. May 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

Gene Wiki entry for NFE2L2 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NT_005403.17 NC_018913.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NFE2L2 gene promoter:
SRY AML1a PPAR-gamma2 NF-kappaB1 Evi-1 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NFE2L2 promoter sequence

Search SABiosciences Chromatin IP Primers for NFE2L2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFE2L2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q31 Ensembl cytogenetic band: 2q31.2 HGNC cytogenetic band: 2q31

NFE2L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFE2L2 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M178092: view genomic region (about GC identifiers)

Start:	178,092,323 bp from pter	End:	178,257,425 bp from pter
Size:	165,103 bases	Orientation:	minus strand

ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for NFE2L2

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NF2L2_HUMAN, Q16236 (See protein sequence)

Recommended Name: Nuclear factor erythroid 2-related factor 2

Size: 605 amino acids; 67827 Da

Subunit: Heterodimer. Forms a ternary complex with PGAM5 and KEAP1. May bind DNA with an unknown protein.

Interacts via its leucine-zipper domain with the coiled-coil domain of PMF1. Interacts with EEF1D at heat shock

promoter elements (HSE)

Subcellular location: Cytoplasm, cytosol. Nucleus. Note=Cytosolic under unstressed conditions, translocates into

the nucleus upon induction by electrophilic agents

Sequence caution: Sequence=AAB32188.1; Type=Erroneous initiation; Sequence=BAD92023.1; Type=Erroneous initiation;

3 PDB 3D structures from and Proteopedia for NFE2L2:

2FLU (3D)

2LZ1 (3D)

3ZGC (3D)

Secondary accessions: B2RBU2 B4E338 E9PGJ7 Q53RW6 Q59HH2 Q96F71

Alternative splicing: 3 isoforms: Q16236-1 Q16236-2 Q16236-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NFE2L2: NX_Q16236

Explore proteomics data for NFE2L2 at MOPED

Post-translational modifications:

UniProtKB: Phosphorylation of Ser-40 by PKC in response to oxidative stress dissociates NFE2L2 from its cytoplasmic inhibitor

KEAP1, promoting its translocation into the nucleus (By similarity)

UniProtKB: Acetylation at Lys-596 and Lys-599 increases nuclear localization whereas deacetylation by SIRT1 enhances

cytoplasmic presence

UniProtKB: Ubiquitinated by the KEAP1-CUL3-RBX1 E3 ubiquitin ligase complex and subject to proteasomal degradation.

Ubiquitination is inhibited by sulforaphane

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q16236

NFE2L2 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (3 alternative transcripts):

NP_001138884.1 NP_001138885.1 NP_006155.2

ENSEMBL proteins:

ENSP00000416308 ENSP00000380253 ENSP00000380252 ENSP00000411575 ENSP00000467401

ENSP00000391590 ENSP00000400073 ENSP00000391291 ENSP00000464920 ENSP00000412191

ENSP00000410015 ENSP00000468089

Human Recombinant Protein Products for NFE2L2:

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	Novus Biologicals NFE2L2 Proteins
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for NFE2L2

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000785	chromatin	IEA	--
GO:0005634	nucleus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005813	centrosome	IDA	--
GO:0005829	cytosol	IDA	--

NFE2L2 for ontologies About GeneDecksing

NFE2L2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of NFE2L2
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	OriGene Antibodies for NFE2L2 OriGene Custom Antibody Services for NFE2L2
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	Abcam antibodies for NFE2L2
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	ThermoFisher Antibody for NFE2L2
	LSBio Antibodies in human, mouse, rat for NFE2L2

Assay Products for NFE2L2:

	Browse Kits and Assays available from EMD Millipore
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	Cloud-Clone Corp. ELISAs for NFE2L2 Cloud-Clone Corp. CLIAs for NFE2L2

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

bZIP: basic leucine zipper proteins

2 InterPro protein domains:

IPR004827 bZIP

IPR008917 Euk_TF_DNA-bd

Graphical View of Domain Structure for InterPro Entry Q16236

ProtoNet protein and cluster: Q16236

1 Blocks protein domain: IPB011616 bZIP transcription factor

UniProtKB/Swiss-Prot: NF2L2_HUMAN, Q16236

Domain: Acidic activation domain in the N-terminus, and DNA binding domain in the C-terminus

Similarity: Belongs to the bZIP family. CNC subfamily

Similarity: Contains 1 bZIP (basic-leucine zipper) domain

NFE2L2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: NF2L2_HUMAN, Q16236

Function: Transcription activator that binds to antioxidant response (ARE) elements in the promoter regions of

target genes. Important for the coordinated up-regulation of genes in response to oxidative stress. May 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

Induction: Down-regulated by ENC1 via a proteasomal ubiquitin-independent protein catabolic process

Genatlas biochemistry entry for NFE2L2:

nuclear factor,erythroid derived 2-like 2,Cap'n'collar (CNC) family of transcription factor,NF-E2-like

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001102	RNA polymerase II activating transcription factor binding	IPI	--
GO:0003677	DNA binding	IDA	18554677
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0005515	protein binding	IPI	16888629
GO:0019904	protein domain specific binding	IPI	11256947

NFE2L2 for ontologies About GeneDecksing

Phenotypes:
15/18 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Nfe2l2) (see all 18):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	growth/size	hematopoietic system	homeostasis/metabolism	immune system
integument	liver/biliary system	mortality/aging	nervous system	normal

NFE2L2 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for NFE2L2: Nfe2l2^tm1Ney Nfe2l2^tm1Ywk

inGenious Targeting Laboratory - Custom generated mouse model solutions for NFE2L2

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NFE2L2

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NFE2L2

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NFE2L2

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NFE2L2
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate NFE2L2 (see all 9):
		hsa-miR-140-5p hsa-miR-7-2* hsa-miR-27a hsa-miR-3139 hsa-miR-708 hsa-miR-153 hsa-miR-7-1* hsa-miR-28-5p

		SwitchGear 3'UTR luciferase reporter plasmid: NFE2L2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NFE2L2
		Search LifeMap BioReagents cell lines for NFE2L2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFE2L2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for NFE2L2 About (see all 6)

See pathways by source

SuperPath

Contained pathways About

Selenium Metabolism and Selenoproteins

Selenium Metabolism and Selenoproteins

Protein processing in endoplasmic reticulum

Protein processing in endoplasmic reticulum

Oxidative Stress

Oxidative Stress

Keap1-Nrf2 Pathway

Keap1-Nrf2 Pathway

AhR pathway

AhR pathway

Pathways by source See SuperPaths
Show all pathways

1 Cell Signaling Technology (CST) Pathway for NFE2L2

Translational Control

4 BioSystems Pathways for NFE2L2

	Keap1-Nrf2 Pathway
	Selenium Metabolism and Selenoproteins
	Oxidative Stress
	AhR pathway

1 Kegg Pathway (Kegg details for NFE2L2):

Protein processing in endoplasmic reticulum

NFE2L2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NFE2L2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/53 Interacting proteins for NFE2L2 (Q16236^{2, 3} ENSP00000380252⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 53)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KEAP1	Q14145²^,³, ENSP00000171111⁴	MINT-2844533 MINT-2844673 MINT-2879967 MINT-2844569 MINT-2844482 MINT-2844810 MINT-2844754 MINT-2844512 MINT-2844647 MINT-2879989 MINT-2844621 MINT-2844789 MINT-2844595 MINT-2844725 MINT-2844455 MINT-2844699 I2D: score=5 STRING: ENSP00000171111
EEF1G	P26641²^,³	MINT-8207313 I2D: score=1
JUN	P05412³, ENSP00000360266⁴	I2D: score=5 STRING: ENSP00000360266
MAFG	O15525³, ENSP00000350369⁴	I2D: score=4 STRING: ENSP00000350369
JUND	P17535³, ENSP00000252818⁴	I2D: score=3 STRING: ENSP00000252818

About this table

Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006366	transcription from RNA polymerase II promoter	TAS	7937919
GO:0010499	proteasomal ubiquitin-independent protein catabolic process	IDA	19424503
GO:0016567	protein ubiquitination	IDA	15983046
GO:0030194	positive regulation of blood coagulation	IEA	--

NFE2L2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NFE2L2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NFE2L2 (NF2L2)

10/92 Novoseek inferred chemical compound relationships for NFE2L2 gene (see all 92) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tbhq	93.4	106	20175231 (6), 17048120 (5), 18417180 (3), 15988009 (3) (see all 30)
sulforaphane	89.4	70	18633117 (4), 20175231 (4), 18417180 (3), 15826493 (3) (see all 26)
gamma-glutamylcysteine	79.2	11	19236154 (1), 11909699 (1), 17158454 (1), 16631525 (1) (see all 9)
oltipraz	72.2	18	18474683 (4), 16714377 (3), 19821532 (2), 15870285 (1)
n acetylcysteine	70.8	28	20384467 (2), 17142801 (1), 11909699 (1), 18928848 (1) (see all 16)
androstane	66.2	3	16399343 (1), 16837569 (1), 15858847 (1)
oxygen	63.7	47	19734219 (2), 17142801 (1), 17266519 (1), 17822364 (1) (see all 32)
15-deoxy-delta-12,14-prostaglandin j2	63.6	16	19723058 (3), 18775681 (2), 20064636 (2), 16987499 (1) (see all 7)
cobalt protoporphyrin	61.2	1	17065227 (1)
xanthohumol	60.2	1	16097803 (1)

Search CenterWatch for drugs/clinical trials and news about NFE2L2 / NF2L2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NFE2L2 gene (3 alternative transcripts):

NM_001145412.2 NM_001145413.2 NM_006164.4

Unigene Cluster for NFE2L2:

Nuclear factor (erythroid-derived 2)-like 2

Hs.744006 [show with all ESTs]

Unigene Representative Sequence: NM_006164

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000458603 ENST00000397063(uc002ulg.4 uc010zfa.2) ENST00000397062(uc002ulh.4)

ENST00000446151 ENST00000464747(uc002uli.4) ENST00000449627 ENST00000448782

ENST00000430047 ENST00000586532 ENST00000421929 ENST00000423513(uc010fra.3)

ENST00000588123 ENST00000477534(uc010frb.3) ENST00000462023

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Additional mRNA sequence:

AB208786.1 AF323119.1 AK297838.1 AK304555.1 AK310656.1 AK310841.1 AK311395.1 AK311688.1

AK314816.1 AK316148.1 BC011558.1 BX649047.1 BX649071.1 HM446346.1 S74017.1

24/30 DOTS entries (see all 30):

DT.100883523 DT.70103701 DT.121021385 DT.92448189 DT.95288997 DT.99990806 DT.121021487 DT.101984362

DT.454685 DT.121021480 DT.100883517 DT.121021362 DT.121021367 DT.91814259 DT.97794292 DT.121021624

DT.100736441 DT.100821389 DT.121021455 DT.40195544 DT.92448191 DT.92448194 DT.100001108 DT.121021506

24/629 AceView cDNA sequences (see all 629):

BG572345 CA444633 AI283937 BU902220 BM726340 BM013970 AI572307 AU135757

AW512933 W45505 BM978416 Z38956 BQ268118 CB850527 CB121882 BE079463

CB268651 CB850991 AW296144 BQ898215 AU185335 BG292004 CB116807 AA032072

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for NFE2L2 (see all 13) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9a	·	9b	^	10a	·	10b	^	11	^	12	^	13a	·	13b	·	13c	·	13d	·	13e	·	13f	^	14	^	15a	·	15b	^	16	^	17	^	18	^
SP1:			-												-		-		-		-		-
SP2:									-		-						-		-		-		-		-		-
SP3:																	-		-		-		-												-		-		-		-
SP4:
SP5:

ExUns:	19	^	20	^	21a	·	21b	^	22a	·	22b
SP1:
SP2:
SP3:
SP4:
SP5:					-

ECgene alternative splicing isoforms for NFE2L2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NFE2L2 expression in normal human tissues (normalized intensities) NFE2L2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CTACGTGATG

About this image

NFE2L2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/15 selected tissues (see all 15) fully expand


Lower Urinary Tract (Urinary System) fully expand to see all 3 entries
Ureter
visceral organ

Lung (Respiratory System) fully expand to see all 2 entries
Stem Bronchi

Nose (Sensory Organs) fully expand to see all 2 entries
sensory organ/nose/nasal cavity

Thymus (Hematopoietic System)
Thymus

Gut Tube (Gastrointestinal Tract)
Foregut

See NFE2L2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NFE2L2

SOURCE GeneReport for Unigene cluster: Hs.744006

UniProtKB/Swiss-Prot: NF2L2_HUMAN, Q16236

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

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NFE2L2 gene from 6/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Nfe2l2^{1 , 5}	nuclear factor, erythroid derived 2, like 2^{1, 5}	83.36(n)¹ 82.52(a)¹		2 (44.75 cM)⁵ 18024¹ NM_010902.3¹ NP_035032.1¹ 75675513⁵
chicken (Gallus gallus)	Aves	NFE2L2¹	nuclear factor (erythroid-derived 2)-like 2	72.56(n) 67.42(a)		396014 NM_205117.1 NP_990448.1
lizard (Anolis carolinensis)	Reptilia	NFE2L2⁶	Uncharacterized protein	60(a)	1 ↔ 1	GL343411.1(494162-534175)
African clawed frog (Xenopus laevis)	Amphibia	BC043997.1²	--	73.41(n)		BC043997.1
zebrafish (Danio rerio)	Actinopterygii	BC045852.1²	--	71.97(n)		360149 BC045852.1
fruit fly (Drosophila melanogaster)	Insecta	cnc³	blastoderm segmentation transcription factor	50(a)		--

ENSEMBL Gene Tree for NFE2L2 (if available)
TreeFam Gene Tree for NFE2L2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NFE2L2 gene

BACH2² NFE2L3² BACH1² NFE2L1² NFE2²

2 SIMAP similar genes for NFE2L2 using alignment to 10 protein entries: NF2L2_HUMAN (see all proteins):

NFE2L1 FLJ00380

NFE2L2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for NFE2L2
PGOHUM00000240273

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78677742^1,2	C,F	--	178094564(+)	`CACACC/TTTCAA`	3	--	int¹		1		NA	120
rs114146942^1,2	C,F	--	178094572(+)	`CAAATG/ATTGCC`	3	--	int¹		1		WA	118
rs138431904^1,2		--	178094611(+)	`CCTTAA/GGTTGT`	3	--	int¹		0	--	--	--	--
rs7603691^1,2	C,H	--	178094622(+)	`GACGCT/CTTTTA`	3	--	int¹		5		NS EA CSA	422
rs80324085^1,2	F	--	178094714(+)	`AGGCAG/AGGATA`	3	--	int¹		1		NA	120
rs147246052^1,2		--	178094764(+)	`TAGTGA/GGCGTA`	3	--	int¹		0	--	--	--	--
rs11370732^1,2	C	--	178094964(+)	`AACAT-/CCTAAA`	3	--	int¹		0	--	--	--	--
rs34261474^1,2	F	--	178094967(-)	`TAATT-/GTANGA`	3	--	int¹		5		MN	384
rs144190519^1,2	C	--	178095000(+)	`AATAC-/TGTGTGA`	3	--	int¹		0	--	--	--	--
rs35911553^1,2	C,F	--	178095045(-)	`ATTATG/AACTGT`	3	--	ut3¹		5		MN	368

HapMap Linkage Disequilibrium report for NFE2L2 (178092323 - 178257425 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for NFE2L2: About this table

Variant ID	Type	Subtype	PubMed ID
nsv834465	CNV	Loss	17160897

Human Gene Mutation Database (HGMD): NFE2L2

5/19 SABiosciences Cancer Mutation PCR Assays for NFE2L2 (see all 19):

Cosmic Id	AA Change
132846	p.V32G
132854	p.L30F
132860	p.E82D
132956	p.G31A
132847	p.R34G

SeqTarget long-range PCR primers for resequencing NFE2L2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 600492 OMIM disorders: --

20/70 diseases for NFE2L2 (see all 70): About MalaCards

papillary adenocarcinoma hepatoblastoma traumatic brain injury friedreich ataxia

gallbladder cancer peptic ulcer brain injury corneal dystrophy

vascular disease venous thromboembolism vitiligo thromboembolism

lung squamous cell carcinoma non-small cell lung carcinoma pulmonary fibrosis spinal cord injury

idiopathic pulmonary fibrosis ependymoma ischemia chronic obstructive pulmonary disease

1 disease from the University of Copenhagen DISEASES database for NFE2L2:

Parkinson's disease

NFE2L2 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

10/31 Novoseek inferred disease relationships for NFE2L2 gene (see all 31) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cancer	47.9	72	18838122 (4), 18413364 (4), 19417020 (3), 19967722 (2) (see all 40)
neurodegenerative diseases	35.9	7	15469687 (1), 17145701 (1), 19573594 (1), 19082951 (1) (see all 7)
inflammation	32.1	13	19359988 (2), 16246346 (1), 16487040 (1), 17145701 (1) (see all 7)
cell damage	32	2	20405857 (1), 17980396 (1)
chemical carcinogenesis	27.1	1	16543142 (1)
vascular diseases	21.3	3	18633117 (1), 17263901 (1)
necrosis	19.8	7	17275675 (1), 17303087 (1), 17724089 (1), 18210237 (1) (see all 6)
colon cancer	18.7	7	19734940 (2), 19524433 (2), 16620709 (2), 19719968 (1)
atherosclerosis	16.1	3	15917255 (2)
chemically induced	15.3	3	17512459 (1), 20501860 (1)

Genetic Association Database (GAD): NFE2L2
Human Genome Epidemiology (HuGE) Navigator: NFE2L2 (23 documents)

Export disorders for NFE2L2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NFE2L2 gene, integrated from 9 sources (see all 840):
(articles sorted by number of sources associating them with NFE2L2)

Utopia: connect your pdf to the dynamic
world of online information

Isolation of NF-E2-related factor 2 (Nrf2), a NF-E2-like basic leucine zipper transcriptional activator that binds to the tandem NF- E2/AP1 repeat of the beta-globin locus control region. (PubMed id 7937919)^{1, 2, 3, 9} Moi P.... Kan Y.W. (1994)
NFE2L2 gene mutation in male Japanese squamous cell c arcinoma of the lung. (PubMed id 20421815)^{1, 4, 9} Sasaki H....Fujii Y. (2010)
Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PubMed id 19424503)^{1, 2, 9} Wang X.J. and Zhang D.D. (2009)
Characterization of the interaction between the transcription factors human polyamine modulated factor (PMF-1) and NF-E2-related factor 2 (Nrf-2) in the transcriptional regulation of the spermidine/spermine N1-acetyltransferase (SSAT) gene. (PubMed id 11256947)^{1, 2, 9} Wang Y.... Casero R.A. Jr. (2001)
Regulation of the antioxidant response element by protein kinase C- mediated phosphorylation of NF-E2-related factor 2. (PubMed id 11035812)^{1, 2, 9} Huang H.-C.... Pickett C.B. (2000)
Structure of the Keap1:Nrf2 interface provides mechanistic insight into Nrf2 signaling. (PubMed id 16888629)^{1, 2, 9} Lo S.-C.... Hannink M. (2006)
PGAM5 tethers a ternary complex containing Keap1 and Nrf2 to mitochondria. (PubMed id 18387606)^{1, 2, 9} Lo S.-C. and Hannink M. (2008)
Genetic variability in iron-related oxidative stress pathways (Nrf2, NQ01, NOS3, and HO-1), iron intake, and risk of postmenopausal breast cancer. (PubMed id 17726138)^{1, 4, 9} Hong C.C....Calle E.E. (2007)
Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway. (PubMed id 15983046)^{1, 2, 9} Zhang D.D.... Hannink M. (2005)
Effect of NFE2L2 genetic polymorphism on the associat ion between oral estrogen therapy and the risk of venous thromboembolism in pos tmenopausal women. (PubMed id 21107315)^{1, 4} Bouligand J....Scarabin P.Y. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4780	HGNC: 7782	AceView: NFE2L2andDKFZp451M2119	Ensembl:ENSG00000116044	euGenes: HUgn4780
ECgene: NFE2L2	Kegg: 4780	H-InvDB: NFE2L2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NFE2L2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NFE2L2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for NFE2L2 gene:
Search GeneIP for patents involving NFE2L2

GeneCards and IP:
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NFE2L2 Gene

Nuclear Factor, Erythroid 2-Like 2

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NFE2L2 Gene

Nuclear Factor, Erythroid 2-Like 2

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