This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogene... See more...

Aliases for NFE2L3 Gene

Aliases for NFE2L3 Gene

  • Nuclear Factor, Erythroid 2 Like 3 2 3 5
  • Nuclear Factor Erythroid 2-Related Factor 3 3 4
  • Nuclear Factor, Erythroid Derived 2, Like 3 3 4
  • NF-E2-Related Factor 3 3 4
  • NFE2-Related Factor 3 3 4
  • NRF3 3 4
  • Nuclear Factor-Erythroid 2 P45-Related Factor 3 3
  • Nuclear Factor (Erythroid-Derived 2)-Like 3 2
  • Nuclear Factor, Erythroid 2-Like 3 2

External Ids for NFE2L3 Gene

Previous GeneCards Identifiers for NFE2L3 Gene

  • GC07P025834
  • GC07P025934
  • GC07P025965
  • GC07P026158
  • GC07P026191

Summaries for NFE2L3 Gene

Entrez Gene Summary for NFE2L3 Gene

  • This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]

GeneCards Summary for NFE2L3 Gene

NFE2L3 (Nuclear Factor, Erythroid 2 Like 3) is a Protein Coding gene. Diseases associated with NFE2L3 include Fibrosarcoma. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription coactivator activity. An important paralog of this gene is NFE2L1.

UniProtKB/Swiss-Prot Summary for NFE2L3 Gene

Gene Wiki entry for NFE2L3 Gene

Additional gene information for NFE2L3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NFE2L3 Gene

Genomics for NFE2L3 Gene

GeneHancer (GH) Regulatory Elements for NFE2L3 Gene

Promoters and enhancers for NFE2L3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NFE2L3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NFE2L3

Top Transcription factor binding sites by QIAGEN in the NFE2L3 gene promoter:
  • Arnt
  • Egr-2
  • FOXO1
  • FOXO1a
  • MyoD
  • NCX
  • Pax-5
  • POU2F1
  • POU2F1a
  • POU3F2

Genomic Locations for NFE2L3 Gene

Genomic Locations for NFE2L3 Gene
chr7:26,152,198-26,187,137
(GRCh38/hg38)
Size:
34,940 bases
Orientation:
Plus strand
chr7:26,191,847-26,226,757
(GRCh37/hg19)
Size:
34,911 bases
Orientation:
Plus strand

Genomic View for NFE2L3 Gene

Genes around NFE2L3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFE2L3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFE2L3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFE2L3 Gene

Proteins for NFE2L3 Gene

  • Protein details for NFE2L3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4A8-NF2L3_HUMAN
    Recommended name:
    Nuclear factor erythroid 2-related factor 3
    Protein Accession:
    Q9Y4A8
    Secondary Accessions:
    • Q6NUS0
    • Q7Z498
    • Q86UJ4
    • Q86VR5
    • Q9UQA4

    Protein attributes for NFE2L3 Gene

    Size:
    694 amino acids
    Molecular mass:
    76154 Da
    Quaternary structure:
    • Heterodimer with MAFG, MAFK and other small MAF proteins that binds to the MAF recognition elements (MARE).
    SequenceCaution:
    • Sequence=AAP22344.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA76288.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for NFE2L3 Gene

Post-translational modifications for NFE2L3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NFE2L3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NFE2L3 Gene

Domains & Families for NFE2L3 Gene

Gene Families for NFE2L3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NFE2L3 Gene

Blocks:
  • bZIP transcription factor, bZIP_1
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NFE2L3 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear factor (Erythroid-derived 2)-like 3 (A4D178_HUMAN)
  • Nuclear factor, erythroid derived 2, like 3 (NF2L3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y4A8

UniProtKB/Swiss-Prot:

NF2L3_HUMAN :
  • Belongs to the bZIP family. CNC subfamily.
Family:
  • Belongs to the bZIP family. CNC subfamily.
genes like me logo Genes that share domains with NFE2L3: view

Function for NFE2L3 Gene

Molecular function for NFE2L3 Gene

UniProtKB/Swiss-Prot Function:
Activates erythroid-specific, globin gene expression.
GENATLAS Biochemistry:
nuclear factor (erythroid-derived 2)-like 3,Cap'n'collar (CNC) family of transcription factor,highly expressed in placenta,B cell and monocyte lineage

Phenotypes From GWAS Catalog for NFE2L3 Gene

Gene Ontology (GO) - Molecular Function for NFE2L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with NFE2L3: view
genes like me logo Genes that share phenotypes with NFE2L3: view

Animal Models for NFE2L3 Gene

MGI Knock Outs for NFE2L3:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for NFE2L3 Gene

Localization for NFE2L3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFE2L3 Gene

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 NFE2L3 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NFE2L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with NFE2L3: view

Pathways & Interactions for NFE2L3 Gene

PathCards logo

SuperPathways for NFE2L3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NFE2L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II TAS 10037736
GO:0045893 positive regulation of transcription, DNA-templated IBA 21873635
genes like me logo Genes that share ontologies with NFE2L3: view

No data available for Pathways by source and SIGNOR curated interactions for NFE2L3 Gene

Drugs & Compounds for NFE2L3 Gene

No Compound Related Data Available

Transcripts for NFE2L3 Gene

mRNA/cDNA for NFE2L3 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFE2L3 Gene

No ASD Table

Relevant External Links for NFE2L3 Gene

GeneLoc Exon Structure for
NFE2L3

Expression for NFE2L3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NFE2L3 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NFE2L3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NFE2L3

SOURCE GeneReport for Unigene cluster for NFE2L3 Gene:

Hs.404741

mRNA Expression by UniProt/SwissProt for NFE2L3 Gene:

Q9Y4A8-NF2L3_HUMAN
Tissue specificity: Highly expressed in human placenta and also in B-cell and monocyte cell lines. Low expression in heart, brain, lung, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for NFE2L3 Gene

  • Kidney(4.1)
genes like me logo Genes that share expression patterns with NFE2L3: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NFE2L3 Gene

Orthologs for NFE2L3 Gene

This gene was present in the common ancestor of animals.

Orthologs for NFE2L3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFE2L3 31 30
  • 98.99 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NFE2L3 31 30
  • 83.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NFE2L3 31 30
  • 83.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nfe2l3 17 31 30
  • 77.49 (n)
rat
(Rattus norvegicus)
Mammalia Nfe2l3 30
  • 76.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NFE2L3 31
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NFE2L3 31
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfe2l3 30
  • 56.25 (n)
Str.17162 30
zebrafish
(Danio rerio)
Actinopterygii nfe2l3 31
  • 29 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cnc 31 32
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 16 (a)
OneToMany
Species where no ortholog for NFE2L3 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 NFE2L3 Gene

ENSEMBL:
Gene Tree for NFE2L3 (if available)
TreeFam:
Gene Tree for NFE2L3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NFE2L3: view image

Paralogs for NFE2L3 Gene

Paralogs for NFE2L3 Gene

(3) SIMAP similar genes for NFE2L3 Gene using alignment to 3 proteins:

  • NF2L3_HUMAN
  • A4D178_HUMAN
  • U3KQ19_HUMAN

Pseudogenes.org Pseudogenes for NFE2L3 Gene

genes like me logo Genes that share paralogs with NFE2L3: view

Variants for NFE2L3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NFE2L3 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs2072129 - p.Val441Glu

Additional dbSNP identifiers (rs#s) for NFE2L3 Gene

Structural Variations from Database of Genomic Variants (DGV) for NFE2L3 Gene

Variant ID Type Subtype PubMed ID
dgv1877e212 CNV gain 25503493
esv1335165 CNV deletion 17803354
esv1600800 CNV insertion 17803354
esv22494 CNV loss 19812545
esv2659850 CNV deletion 23128226
esv2671129 CNV deletion 23128226
esv2734156 CNV deletion 23290073
esv3541363 CNV deletion 23714750
esv3541364 CNV deletion 23714750
esv3612615 CNV gain 21293372
esv3612621 CNV gain 21293372
esv3612626 CNV gain 21293372
esv3612627 CNV loss 21293372
esv3612628 CNV loss 21293372
esv3612629 CNV loss 21293372
esv3612631 CNV loss 21293372
esv3891090 CNV gain 25118596
nsv1028727 CNV gain 25217958
nsv1034358 CNV gain 25217958
nsv1074081 CNV deletion 25765185
nsv1076879 CNV deletion 25765185
nsv1145127 CNV deletion 24896259
nsv606432 CNV gain 21841781
nsv7393 OTHER inversion 18451855
nsv970807 CNV duplication 23825009

Variation tolerance for NFE2L3 Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.73; 66.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NFE2L3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFE2L3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFE2L3 Gene

Disorders for NFE2L3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NFE2L3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
fibrosarcoma
  • fibrocytic tumor
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NFE2L3

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 NFE2L3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NFE2L3 Gene

Publications for NFE2L3 Gene

  1. Molecular cloning and functional characterization of a new Cap'n' collar family transcription factor Nrf3. (PMID: 10037736) Kobayashi A … Yamamoto M (The Journal of biological chemistry 1999) 2 3 4 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  4. Endoplasmic reticulum association and N-linked glycosylation of the human Nrf3 transcription factor. (PMID: 17976382) Nouhi Z … Blank V (FEBS letters 2007) 3 23 54
  5. Functional and placental expression analysis of the human NRF3 transcription factor. (PMID: 15388789) Chénais B … Blank V (Molecular endocrinology (Baltimore, Md.) 2005) 3 23 54

Products for NFE2L3 Gene

Sources for NFE2L3 Gene