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 tr... See more...

Aliases for NFE2L2 Gene

Aliases for NFE2L2 Gene

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

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]

CIViC Summary for NFE2L2 Gene

GeneCards Summary for NFE2L2 Gene

NFE2L2 (Nuclear Factor, Erythroid 2 Like 2) is a Protein Coding gene. Diseases associated with NFE2L2 include Immunodeficiency, Developmental Delay, And Hypohomocysteinemia and Lung Squamous Cell Carcinoma. Among its related pathways are Photodynamic therapy-induced unfolded protein response and Selenium Metabolism and Selenoproteins. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein domain specific binding. An important paralog of this gene is NFE2L1.

UniProtKB/Swiss-Prot Summary 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 and the regulation of cellular redox conditions. 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

Additional gene information for NFE2L2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NFE2L2 Gene

Genomics for NFE2L2 Gene

GeneHancer (GH) Regulatory Elements for NFE2L2 Gene

Promoters and enhancers for NFE2L2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J177260 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 762.5 +127.2 127211 11 ZNF785 SIN3A ZNF24 ZBTB40 SP1 CTCF ZBTB6 FOXA1 MLX RBPJ NFE2L2 ENSG00000222043 RF02531 lnc-TTC30B-4 HNRNPA3 RBM45 DNAJC19P5 LOC100130691 ENSG00000272551 ENSG00000271825
GH02J177237 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 26.8 +150.2 150194 9.4 SIN3A LCORL RBPJ SMARCE1 POLR2A USF2 NR2F6 MIXL1 ZNF362 ETV6 lnc-HNRNPA3-1 NFE2L2 ENSG00000222043 HNRNPA3 ENSG00000229337 ENSG00000237178 ENSG00000238295 LOC100130691 ENSG00000272551 lnc-TTC30B-2
GH02J177210 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.2 +179.5 179542 5.5 SIN3A ZNF24 SP1 ZBTB40 SREBF1 LCORL MLX RBPJ POLR2A TCF7L2 HNRNPA3 ENSG00000229337 MIR4444-1 lnc-AGPS-6 RBM45 DNAJC19P5 NFE2L2 ENSG00000222043 LOC100130691 ENSG00000272551
GH02J177164 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.4 +224.0 224045 9 GTF3C2 SIN3A ZNF24 SP1 ZBTB40 CTCF LCORL MLX RBPJ SMARCE1 HNRNPA3 RBM45 NFE2L2 DNAJC19P5 ENSG00000222043 ENSG00000236501 LOC105373760 ENSG00000226273 lnc-HNRNPA3-13 ENSG00000229337
GH02J177391 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.8 -2.7 -2719 7.2 ZNF24 ZBTB40 SIX5 LCORL MLX FOXA1 RBPJ POLR2A USF2 NR2F1 AGPS HNRNPA3 RBM45 DNAJC19P5 NFE2L2 LOC100130691 ENSG00000238295 ENSG00000237178 piR-33905-047
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NFE2L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NFE2L2 gene promoter:
  • AML1a
  • C/EBPalpha
  • Evi-1
  • NF-kappaB1
  • PPAR-gamma2
  • SRY

Genomic Locations for NFE2L2 Gene

Genomic Locations for NFE2L2 Gene
chr2:177,227,595-177,392,697
(GRCh38/hg38)
Size:
165,103 bases
Orientation:
Minus strand
chr2:178,092,323-178,257,425
(GRCh37/hg19)
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. Interacts with ESRRB; represses NFE2L2 transcriptional activity (By similarity).
    • (Microbial infection) Interacts with herpes virus 8 protein LANA1.
    SequenceCaution:
    • Sequence=AAB32188.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD92023.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

  • Phosphorylation of Ser-40 by PKC in response to oxidative stress dissociates NFE2L2 from its cytoplasmic inhibitor KEAP1, promoting its translocation into the nucleus.
  • Acetylation at Lys-596 and Lys-599 increases nuclear localization whereas deacetylation by SIRT1 enhances cytoplasmic presence.
  • 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

Antibody Products

  • Abcam antibodies for NFE2L2

No data available for DME Specific Peptides for NFE2L2 Gene

Domains & Families for NFE2L2 Gene

Gene Families for NFE2L2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NFE2L2 Gene

Suggested Antigen Peptide Sequences for NFE2L2 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear factor erythroid-derived 2-like 2 transcript variant 1 (E2I973_HUMAN)
  • Nuclear factor, erythroid derived 2, like 2 (NF2L2_HUMAN)

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.
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

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 and the regulation of cellular redox conditions. 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.
GENATLAS Biochemistry:
nuclear factor,erythroid derived 2-like 2,Cap'n'collar (CNC) family of transcription factor,NF-E2-like

Phenotypes From GWAS Catalog for NFE2L2 Gene

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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001102 RNA polymerase II activating transcription factor binding IPI 23043106
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

Human Phenotype Ontology for NFE2L2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NFE2L2 Gene

MGI Knock Outs for NFE2L2:

Animal Model Products

CRISPR 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

No data available for Enzyme Numbers (IUBMB) 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. {ECO:0000269 PubMed:21196497}.

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
nucleus 5
cytosol 5
plasma membrane 4
cytoskeleton 4
golgi apparatus 4
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NFE2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IEA --
GO:0005634 nucleus IDA,IEA 18202225
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 22492997
GO:0005794 Golgi apparatus IDA --
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

SIGNOR curated interactions for NFE2L2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NFE2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS 7937919
GO:0006954 inflammatory response IEA --
GO:0007568 aging IEA --
GO:0010499 proteasomal ubiquitin-independent protein catabolic process IDA 19424503
genes like me logo Genes that share ontologies with NFE2L2: view

Drugs & Compounds for NFE2L2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Curcumin Approved, Experimental, Investigational Pharma Tyrosinase inhibitor 195
Dimethyl fumarate Approved, Investigational Pharma 96
Oltipraz Investigational Pharma An antischistosomal agent, Nrf2 activator 4
AI-3 Pharma ARE activator; induces Nrf2-ARE-dependent transcription 0
TAT 14 Pharma Nrf2 pathway activator; blocks Nrf2/Keap1 interaction 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CDDO Im
443104-02-7
NK 252
1414963-82-8

(5) Tocris Compounds for NFE2L2 Gene

Compound Action Cas Number
AI-3 ARE activator; induces Nrf2-ARE-dependent transcription 882288-28-0
CDDO Im Nrf2 signaling activator 443104-02-7
NK 252 Nrf2 activator 1414963-82-8
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

CRISPR Products

Clone 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 CGAP 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 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.

Evidence on tissue expression from TISSUES for NFE2L2 Gene

  • Lung(4.8)
  • Nervous system(4.6)
  • Liver(3.6)
  • Intestine(3.1)
  • Kidney(3)
  • Skin(3)
  • Heart(2.9)
  • Muscle(2.9)
  • Blood(2.8)
  • Pancreas(2.8)
  • Adrenal gland(2.7)
  • Stomach(2.3)
  • Eye(2.2)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with NFE2L2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 99.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NFE2L2 33 32
  • 90.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NFE2L2 33 32
  • 89.32 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfe2l2 32
  • 83.75 (n)
mouse
(Mus musculus)
Mammalia Nfe2l2 17 33 32
  • 83.36 (n)
oppossum
(Monodelphis domestica)
Mammalia NFE2L2 33
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFE2L2 33
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFE2L2 33 32
  • 72.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NFE2L2 33
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfe2l2 32
  • 62.45 (n)
Str.11814 32
zebrafish
(Danio rerio)
Actinopterygii nfe2l2a 33 32
  • 55.74 (n)
OneToOne
-- 32
fruit fly
(Drosophila melanogaster)
Insecta cnc 33 34
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NFE2L2: view image

Paralogs for NFE2L2 Gene

Paralogs for NFE2L2 Gene

(2) SIMAP similar genes for NFE2L2 Gene using alignment to 10 proteins:

  • NF2L2_HUMAN
  • C9J0Y1_HUMAN
  • C9J1A8_HUMAN
  • C9J3K4_HUMAN
  • C9JBM0_HUMAN
  • C9JFL6_HUMAN
  • E2I973_HUMAN
  • H7C498_HUMAN
  • K7EIW5_HUMAN
  • K7ER33_HUMAN

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 Variation AA Info Type
rs1057519920 likely-pathogenic, Uterine cervical neoplasms, Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder, Renal cell carcinoma, papillary, 1, Lung adenocarcinoma, Malignant neoplasm of body of uterus, Squamous cell lung carcinoma 177,234,232(-) C/A/G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1057519921 likely-pathogenic, Transitional cell carcinoma of the bladder, Malignant neoplasm of body of uterus, Uterine cervical neoplasms, Renal cell carcinoma, papillary, 1, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Squamous cell lung carcinoma 177,234,231(-) T/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1057519922 likely-pathogenic, pathogenic, Squamous cell lung carcinoma, Transitional cell carcinoma of the bladder, Hepatocellular carcinoma, Uterine cervical neoplasms, Lung adenocarcinoma, Squamous cell carcinoma of the head and neck, IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA, Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744] 177,234,082(-) C/G/T coding_sequence_variant, intron_variant, missense_variant, synonymous_variant
rs1057519923 likely-pathogenic, Uterine cervical neoplasms, Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Transitional cell carcinoma of the bladder, Hepatocellular carcinoma 177,234,081(-) T/A coding_sequence_variant, intron_variant, missense_variant, stop_gained
rs1057519924 likely-pathogenic, Transitional cell carcinoma of the bladder, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Hepatocellular carcinoma, Squamous cell lung carcinoma, Uterine cervical neoplasms 177,234,080(-) C/A coding_sequence_variant, intron_variant, missense_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)

Additional Variant Information 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

(18) MalaCards diseases for NFE2L2 Gene - From: HGMD, OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NF2L2_HUMAN
  • Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744]: An early onset multisystem disorder characterized by immunodeficiency, recurrent infections, developmental delay, poor growth, intellectual disability, and hypohomocysteinemia. Some patients manifest congenital cardiac defects. IMDDHH inheritance pattern is autosomal dominant. {ECO:0000269 PubMed:29018201}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NFE2L2

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

No data available for 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 YW (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 23 56
  2. NFE2L2 gene mutation in male Japanese squamous cell carcinoma of the lung. (PMID: 20421815) Sasaki H … Fujii Y (Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2010) 3 23 43 56
  3. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PMID: 19424503) Wang XJ … Zhang DD (PloS one 2009) 3 4 23 56
  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 CC … Calle EE (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2007) 3 23 43 56
  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 RA (The Biochemical journal 2001) 3 4 23 56

Products for NFE2L2 Gene