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Aliases for NFE2L2 Gene

Aliases for NFE2L2 Gene

  • Nuclear Factor, Erythroid 2 Like 2 2 3 5
  • NF-E2-Related Factor 2 2 4
  • HEBP1 3 4
  • NRF2 3 4
  • Nuclear Factor (Erythroid-Derived 2)-Like 2 2
  • Nuclear Factor Erythroid 2-Related Factor 2 3
  • Nuclear Factor, Erythroid Derived 2, Like 2 4
  • Nuclear Factor Erythroid-Derived 2-Like 2 3
  • Nuclear Factor, Erythroid 2-Like 2 2
  • NFE2-Related Factor 2 4

External Ids for NFE2L2 Gene

Previous GeneCards Identifiers for NFE2L2 Gene

  • GC02M176157
  • GC02M176766
  • GC02M178059
  • GC02M178297
  • GC02M177920
  • GC02M177803
  • GC02M169966
  • GC02M178092

Summaries for NFE2L2 Gene

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 characterized for this gene. [provided by RefSeq, Sep 2015]

GeneCards Summary for NFE2L2 Gene

NFE2L2 (Nuclear Factor, Erythroid 2 Like 2) is a Protein Coding gene. Diseases associated with NFE2L2 include Parkinson Disease 4 and Lung Squamous Cell Carcinoma. Among its related pathways are Oxidative Stress and Protein processing in endoplasmic reticulum. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein domain specific binding. An important paralog of this gene is NFE2L1.

UniProtKB/Swiss-Prot for NFE2L2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFE2L2 Gene

Genomics for NFE2L2 Gene

Regulatory Elements for NFE2L2 Gene

Enhancers for NFE2L2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F177237 1.8 FANTOM5 Ensembl ENCODE 26.8 +149.8 149797 10.6 MLX CREB3L1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFE2L2 HNRNPA3 ENSG00000222043 ENSG00000229337 MIR4444-1 ENSG00000237178 ENSG00000238295 LOC100130691 LOC105373754 DNAJC19P5
GH02F177164 1.7 FANTOM5 Ensembl ENCODE 14.4 +224.0 224045 9.0 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 NFE2L2 ENSG00000222043 LOC105373760 LOC391465
GH02F177281 1.4 FANTOM5 Ensembl ENCODE 17.4 +110.6 110597 2.2 TBL1XR1 MAX RAD21 ZIC2 YY1 RELA ZFHX2 EED CREM MTA2 NFE2L2 LOC100130691 HNRNPA3 ENSG00000271825 GC02P177265
GH02F176996 1.4 FANTOM5 Ensembl ENCODE 11.1 +394.0 393999 3.8 HDGF PKNOX1 BMI1 ZNF366 CBX5 ZNF143 ETV6 CREM CBFB CEBPB NFE2L2 HNRNPA3 RNU6-187P GC02M176930 GC02M177107
GH02F177337 1.1 Ensembl ENCODE 11.8 +54.3 54265 1.4 HDAC1 ATF1 DDX20 JUN ZNF175 ZNF26 PRDM10 NR2F6 TRIM24 FOS LOC100130691 AGPS NFE2L2 ENSG00000222043 LOC105373757 GC02P177337 ENSG00000237178
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NFE2L2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NFE2L2 Gene

Chromosome:
2
Start:
177,227,595 bp from pter
End:
177,392,697 bp from pter
Size:
165,103 bases
Orientation:
Minus strand

Genomic View for NFE2L2 Gene

Genes around NFE2L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFE2L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFE2L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFE2L2 Gene

Proteins for NFE2L2 Gene

  • Protein details for NFE2L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16236-NF2L2_HUMAN
    Recommended name:
    Nuclear factor erythroid 2-related factor 2
    Protein Accession:
    Q16236
    Secondary Accessions:
    • B2RBU2
    • B4E338
    • E9PGJ7
    • Q53RW6
    • Q59HH2
    • Q96F71

    Protein attributes for NFE2L2 Gene

    Size:
    605 amino acids
    Molecular mass:
    67827 Da
    Quaternary structure:
    • 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). Interacts (via the bZIP domain) with MAFK; required for binding to antioxidant response (ARE) elements on DNA. Interacts with CHD6; involved in activation of the transcription.
    SequenceCaution:
    • Sequence=AAB32188.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92023.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NFE2L2 Gene

    Alternative splice isoforms for NFE2L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFE2L2 Gene

Post-translational modifications for NFE2L2 Gene

  • Acetylation at Lys-596 and Lys-599 increases nuclear localization whereas deacetylation by SIRT1 enhances cytoplasmic presence.
  • Phosphorylation of Ser-40 by PKC in response to oxidative stress dissociates NFE2L2 from its cytoplasmic inhibitor KEAP1, promoting its translocation into the nucleus.
  • Ubiquitinated by the KEAP1-CUL3-RBX1 E3 ubiquitin ligase complex and subject to proteasomal degradation. Ubiquitination is inhibited by sulforaphane.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NFE2L2 Gene

Domains & Families for NFE2L2 Gene

Gene Families for NFE2L2 Gene

Protein Domains for NFE2L2 Gene

Suggested Antigen Peptide Sequences for NFE2L2 Gene

Graphical View of Domain Structure for InterPro Entry

Q16236

UniProtKB/Swiss-Prot:

NF2L2_HUMAN :
  • Acidic activation domain in the N-terminus, and DNA binding domain in the C-terminus.
  • Belongs to the bZIP family. CNC subfamily.
Domain:
  • Acidic activation domain in the N-terminus, and DNA binding domain in the C-terminus.
  • Contains 1 bZIP (basic-leucine zipper) domain.
Family:
  • Belongs to the bZIP family. CNC subfamily.
genes like me logo Genes that share domains with NFE2L2: view

Function for NFE2L2 Gene

Molecular function for NFE2L2 Gene

GENATLAS Biochemistry:
nuclear factor,erythroid derived 2-like 2,Capncollar (CNC) family of transcription factor,NF-E2-like
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Down-regulated by ENC1 via a proteasomal ubiquitin-independent protein catabolic process.

Gene Ontology (GO) - Molecular Function for NFE2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding TAS 24252804
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0001102 RNA polymerase II activating transcription factor binding IPI 23043106
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding IEA --
GO:0001221 transcription cofactor binding IEA --
genes like me logo Genes that share ontologies with NFE2L2: view
genes like me logo Genes that share phenotypes with NFE2L2: view

Animal Models for NFE2L2 Gene

MGI Knock Outs for NFE2L2:

Animal Model Products

Targeted motifs for NFE2L2 Gene
HOMER Transcription Factor Regulatory Elements motif NFE2L2
  • Consensus sequence: HTGCTGAGTCAT Submotif: canonical Cell Type: Lymphoblast GEO ID: GSE37589

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for NFE2L2 Gene

Localization for NFE2L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFE2L2 Gene

Cytoplasm, cytosol. Nucleus. Note=Cytosolic under unstressed conditions, translocates into the nucleus upon induction by electrophilic agents.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFE2L2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
golgi apparatus 4
extracellular 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for NFE2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IEA --
GO:0005634 nucleus IEA,IDA 18202225
GO:0005737 cytoplasm IEA,IDA 22492997
GO:0005813 centrosome IDA --
GO:0005829 cytosol IDA 23043106
genes like me logo Genes that share ontologies with NFE2L2: view

Pathways & Interactions for NFE2L2 Gene

genes like me logo Genes that share pathways with NFE2L2: view

Pathways by source for NFE2L2 Gene

SIGNOR curated interactions for NFE2L2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NFE2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS 7937919
GO:0006954 inflammatory response IEA --
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with NFE2L2: view

Drugs & Compounds for NFE2L2 Gene

(55) Drugs for NFE2L2 Gene - From: ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dimethyl fumarate Approved, Investigational Pharma 81
Curcumin Pharma Tyrosinase inhibitor, Antitumor, anti-inflammatory and antioxidant 137
TAT 14 Pharma Nrf2 pathway activator; blocks Nrf2/Keap1 interaction 0
Oltipraz Pharma An antischistosomal agent, Nrf2 activator 4
AI-3 Pharma 0

(44) Additional Compounds for NFE2L2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CDDO Im
443104-02-7
ML 334
1432500-66-7

(5) Tocris Compounds for NFE2L2 Gene

Compound Action Cas Number
CDDO Im Nrf2 signaling activator 443104-02-7
Curcumin Antitumor, anti-inflammatory and antioxidant 458-37-7
ML 334 Inhibitor of Keap1- Nrf2 interaction 1432500-66-7
Oltipraz Nrf2 activator 64224-21-1
TAT 14 Nrf2 pathway activator; blocks Nrf2/Keap1 interaction 1362661-34-4

(6) ApexBio Compounds for NFE2L2 Gene

Compound Action Cas Number
AI-3 882288-28-0
CDDO-EA 932730-51-3
Curcumin Tyrosinase inhibitor 458-37-7
Dimethyl Fumarate 624-49-7
Omaveloxolone (RTA-408) 1474034-05-3
TAT 14 1362661-34-4
genes like me logo Genes that share compounds with NFE2L2: view

Transcripts for NFE2L2 Gene

Unigene Clusters for NFE2L2 Gene

Nuclear factor (erythroid-derived 2)-like 2:
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFE2L2 Gene

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:
SP6: - -
SP7: - -
SP8:
SP9:
SP10: - - - - - - - -
SP11: -
SP12: -
SP13:

ExUns: 19 ^ 20 ^ 21a · 21b ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for NFE2L2 Gene

GeneLoc Exon Structure for
NFE2L2
ECgene alternative splicing isoforms for
NFE2L2

Expression for NFE2L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NFE2L2 Gene

Protein differential expression in normal tissues from HIPED for NFE2L2 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NFE2L2 Gene



Protein tissue co-expression partners for NFE2L2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NFE2L2 Gene:

NFE2L2

SOURCE GeneReport for Unigene cluster for NFE2L2 Gene:

Hs.744006

mRNA Expression by UniProt/SwissProt for NFE2L2 Gene:

Q16236-NF2L2_HUMAN
Tissue specificity: Widely expressed. Highest expression in adult muscle, kidney, lung, liver and in fetal muscle.
genes like me logo Genes that share expression patterns with NFE2L2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NFE2L2 Gene

Orthologs for NFE2L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NFE2L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFE2L2 34 35
  • 99.94 (n)
cow
(Bos Taurus)
Mammalia NFE2L2 34 35
  • 90.45 (n)
dog
(Canis familiaris)
Mammalia NFE2L2 34 35
  • 89.32 (n)
rat
(Rattus norvegicus)
Mammalia Nfe2l2 34
  • 83.75 (n)
mouse
(Mus musculus)
Mammalia Nfe2l2 34 16 35
  • 83.36 (n)
oppossum
(Monodelphis domestica)
Mammalia NFE2L2 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFE2L2 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFE2L2 34 35
  • 72.44 (n)
lizard
(Anolis carolinensis)
Reptilia NFE2L2 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfe2l2 34
  • 62.45 (n)
Str.11814 34
zebrafish
(Danio rerio)
Actinopterygii nfe2l2a 34 35
  • 55.74 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta cnc 36 35
  • 50 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 14 (a)
OneToMany
Species where no ortholog for NFE2L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NFE2L2 Gene

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

Paralogs for NFE2L2 Gene

Paralogs for NFE2L2 Gene

Pseudogenes.org Pseudogenes for NFE2L2 Gene

genes like me logo Genes that share paralogs with NFE2L2: view

Variants for NFE2L2 Gene

Sequence variations from dbSNP and Humsavar for NFE2L2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs114377436 untested 177,233,994(+) ACTGA(A/G)TACTC intron-variant
rs141363120 untested 177,231,678(+) AGAGA(A/G)TGAAT reference, missense
rs181294188 untested 177,231,257(+) CCAAG(C/T)GGCTT reference, missense
rs182428269 untested 177,234,190(+) TTTCC(A/G)TCGCT intron-variant, reference, missense, utr-variant-5-prime
rs191231706 untested 177,233,237(+) GGTTA(C/T)TTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NFE2L2 Gene

Variant ID Type Subtype PubMed ID
nsv834465 CNV loss 17160897

Variation tolerance for NFE2L2 Gene

Residual Variation Intolerance Score: 58.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NFE2L2 Gene

Human Gene Mutation Database (HGMD)
NFE2L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFE2L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFE2L2 Gene

Disorders for NFE2L2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NFE2L2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease 4
  • parkinson disease 4 autosomal dominant lewy body
lung squamous cell carcinoma
  • epidermoid cell carcinoma of the lung
leiomyomatosis and renal cell cancer
  • hereditary leiomyomatosis and renal cell cancer
lung papillary adenocarcinoma
  • papillary adenocarcinoma of the lung
pneumothorax
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NFE2L2

Genetic Association Database (GAD)
NFE2L2
Human Genome Epidemiology (HuGE) Navigator
NFE2L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NFE2L2
genes like me logo Genes that share disorders with NFE2L2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NFE2L2 Gene

Publications for NFE2L2 Gene

  1. 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. (PMID: 7937919) Moi P. … Kan Y.W. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 22 64
  2. NFE2L2 gene mutation in male Japanese squamous cell carcinoma of the lung. (PMID: 20421815) Sasaki H. … Fujii Y. (J Thorac Oncol 2010) 3 22 46 64
  3. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PMID: 19424503) Wang X.J. … Zhang D.D. (PLoS ONE 2009) 3 4 22 64
  4. Genetic variability in iron-related oxidative stress pathways (Nrf2, NQ01, NOS3, and HO-1), iron intake, and risk of postmenopausal breast cancer. (PMID: 17726138) Hong C.C. … Calle E.E. (Cancer Epidemiol. Biomarkers Prev. 2007) 3 22 46 64
  5. 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. (PMID: 11256947) Wang Y. … Casero R.A. Jr. (Biochem. J. 2001) 3 4 22 64

Products for NFE2L2 Gene

Sources for NFE2L2 Gene

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