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    NFE2L2 NFE2 like bZIP transcription factor 2 [ Homo sapiens (human) ]

    Gene ID: 4780, updated on 15-Jul-2024

    Summary

    Official Symbol
    NFE2L2provided by HGNC
    Official Full Name
    NFE2 like bZIP transcription factor 2provided by HGNC
    Primary source
    HGNC:HGNC:7782
    See related
    Ensembl:ENSG00000116044 MIM:600492; AllianceGenome:HGNC:7782
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NRF2; HEBP1; Nrf-2; IMDDHH
    Summary
    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]
    Expression
    Ubiquitous expression in esophagus (RPKM 93.8), thyroid (RPKM 52.1) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NFE2L2 in Genome Data Viewer
    Location:
    2q31.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (177230303..177264727, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (177712539..177746971, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (178095031..178129455, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178077489-178078160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12143 Neighboring gene microRNA 4444-1 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 4724 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:178127429-178128628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12145 Neighboring gene microRNA 3128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16796 Neighboring gene Putative uncharacterized protein FLJ44553 Neighboring gene microRNA 6512 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:178202734-178203933 Neighboring gene H3 histone pseudogene 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 significantly upregulates Nrf2 in human astrocytes and is associated with increased levels of key antioxidant defensive enzymes Hemoxygenase (HO-1) and NAD(P)H dehydrogenase quinone1 (Nqo1) PubMed
    env Inhibition of NRF2 by siRNA results in increased NOX2, NFkappaB (p65/p50), TNF-alpha, and MMP-9 proteins in astrocytes exposed to HIV-1 gp120 PubMed
    Tat tat HIV-1 Tat activates NFE2L2 (Nrf2) protein levels in SH-SY5Y cells PubMed
    tat HIV-1 Tat upregulates NFE2L2 (Nrf2) protein levels in SH-SY5Y cells PubMed
    tat HIV-1 Tat-induced reactive oxygen species production and down-regulation of glutathione levels in TZM-bl cells are reversed through tanshinone II A-induced upregulation of NRF2 expression PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables molecular condensate scaffold activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transcription coregulator binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in PERK-mediated unfolded protein response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in PERK-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in aflatoxin catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell redox homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to copper ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to fluid shear stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to glucose starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hydrogen peroxide IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cellular response to hydrogen peroxide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to laminar fluid shear stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to oxidative stress NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to oxidative stress TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to tumor necrosis factor IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endoplasmic reticulum unfolded protein response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in integrated stress response signaling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cardiac muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of endothelial cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of ferroptosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of hematopoietic stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of vascular associated smooth muscle cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ERAD pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of blood vessel endothelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of glucose import IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of glutathione biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in proteasomal ubiquitin-independent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cellular response to oxidative stress EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in regulation of embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of removal of superoxide radicals IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    part_of RNA polymerase II transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
     
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of mediator complex EXP
    Inferred from Experiment
    more info
    PubMed 
    is_active_in non-membrane-bounded organelle EXP
    Inferred from Experiment
    more info
    PubMed 
    is_active_in non-membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    part_of protein-DNA complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001145412.3NP_001138884.1  nuclear factor erythroid 2-related factor 2 isoform 2

      See identical proteins and their annotated locations for NP_001138884.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 4 and 5 encode the same protein.
      Source sequence(s)
      AW471118, BC011558, DB133391, DC314553
      Consensus CDS
      CCDS46457.1
      UniProtKB/TrEMBL
      B4DNB0, B7ZA33
      Related
      ENSP00000380253.4, ENST00000397063.9
      Conserved Domains (2) summary
      cd14720
      Location:478545
      bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
      pfam06886
      Location:2558
      TPX2; Targeting protein for Xklp2 (TPX2)
    2. NM_001145413.3NP_001138885.1  nuclear factor erythroid 2-related factor 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and 5' UTR, uses a downstream start codon, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus and is missing an internal segment, compared to isoform 1.
      Source sequence(s)
      AW471118, BC011558, DB133391, DC314553
      Consensus CDS
      CCDS46458.1
      UniProtKB/TrEMBL
      B4DNB0, B7ZA33
      Related
      ENSP00000411575.2, ENST00000446151.6
      Conserved Domains (2) summary
      cd14720
      Location:471538
      bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
      cd22249
      Location:2763
      UDM1_RNF168_RNF169-like; UDM1 (ubiquitin-dependent DSB recruitment module 1) found in RING finger proteins RNF168, RNF169 and similar proteins
    3. NM_001313900.1NP_001300829.1  nuclear factor erythroid 2-related factor 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and 5' UTR and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 4 and 5 encode the same protein.
      Source sequence(s)
      AC079305, AK311688, AW471118
      Consensus CDS
      CCDS46457.1
      UniProtKB/TrEMBL
      B4DNB0, B7ZA33
      Related
      ENSP00000412191.2, ENST00000421929.6
      Conserved Domains (2) summary
      cd14720
      Location:478545
      bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
      pfam06886
      Location:2558
      TPX2; Targeting protein for Xklp2 (TPX2)
    4. NM_001313901.1NP_001300830.1  nuclear factor erythroid 2-related factor 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter and 5' UTR and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 4 and 5 encode the same protein.
      Source sequence(s)
      AC079305, AK311395, AW471118
      Consensus CDS
      CCDS46457.1
      UniProtKB/TrEMBL
      B4DNB0, B7ZA33
      Related
      ENSP00000400073.2, ENST00000448782.6
      Conserved Domains (2) summary
      cd14720
      Location:478545
      bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
      pfam06886
      Location:2558
      TPX2; Targeting protein for Xklp2 (TPX2)
    5. NM_001313902.2NP_001300831.1  nuclear factor erythroid 2-related factor 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting isoform (4) is shorter compared to isoform 1.
      Source sequence(s)
      AC079305, BI910808
      Consensus CDS
      CCDS92903.1
      UniProtKB/TrEMBL
      A0A8V8TN14, A0A8V8TN85
      Related
      ENSP00000514280.1, ENST00000699300.1
      Conserved Domains (2) summary
      cd14720
      Location:464531
      bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
      pfam06886
      Location:4174
      TPX2; Targeting protein for Xklp2 (TPX2)
    6. NM_001313903.2NP_001300832.1  nuclear factor erythroid 2-related factor 2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting isoform (5) is shorter compared to isoform 1.
      Source sequence(s)
      AC079305, BP228042
      Consensus CDS
      CCDS92904.1
      UniProtKB/TrEMBL
      A0A8V8TPA8, E2I973
      Related
      ENSP00000514217.1, ENST00000699223.1
      Conserved Domains (1) summary
      cd14720
      Location:421488
      bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
    7. NM_001313904.1NP_001300833.1  nuclear factor erythroid 2-related factor 2 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) represents use of an alternate promoter and 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (6) is shorter compared to isoform 1.
      Source sequence(s)
      AC079305, AV702059, AW471118
      UniProtKB/TrEMBL
      B7ZA33
      Conserved Domains (1) summary
      cd14720
      Location:394461
      bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
    8. NM_006164.5NP_006155.2  nuclear factor erythroid 2-related factor 2 isoform 1

      See identical proteins and their annotated locations for NP_006155.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC011558, DA438735
      Consensus CDS
      CCDS42782.1
      UniProtKB/Swiss-Prot
      B2RBU2, B4E338, E9PGJ7, Q16236, Q53RW6, Q59HH2, Q96F71
      UniProtKB/TrEMBL
      E2I973
      Related
      ENSP00000380252.3, ENST00000397062.8
      Conserved Domains (2) summary
      cd14720
      Location:494561
      bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
      pfam06886
      Location:4074
      TPX2; Targeting protein for Xklp2 (TPX2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      177230303..177264727 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      177712539..177746971 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)