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    NFE2L2 nuclear factor, erythroid 2 like 2 [ Homo sapiens (human) ]

    Gene ID: 4780, updated on 25-Sep-2016
    Official Symbol
    NFE2L2provided by HGNC
    Official Full Name
    nuclear factor, erythroid 2 like 2provided by HGNC
    Primary source
    HGNC:HGNC:7782
    See related
    Ensembl:ENSG00000116044 HPRD:02732; MIM:600492; Vega:OTTHUMG00000133620
    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
    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]
    Orthologs
    Location:
    2q31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (177230303..177265131, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (178095031..178129859, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373759 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 microRNA 3128 Neighboring gene uncharacterized LOC100130691 Neighboring gene microRNA 6512 Neighboring gene alkylglycerone phosphate synthase Neighboring gene uncharacterized LOC105373762

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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-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

    • AhR pathway, organism-specific biosystem (from WikiPathways)
      AhR pathway, organism-specific biosystem
      AhR pathway
    • Keap1-Nrf2 Pathway, organism-specific biosystem (from WikiPathways)
      Keap1-Nrf2 Pathway, organism-specific biosystemBased on [http://www.nature.com/nrc/journal/v3/n10/fig_tab/nrc1189_F4.html Surh, 2003, figure 4].
    • Oxidative Stress, organism-specific biosystem (from WikiPathways)
      Oxidative Stress, organism-specific biosystemOxidative stress represents an imbalance between the production and manifestation of reactive oxygen species and a biological system's ability to readily detoxify the reactive intermediates or to rep...
    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Selenium Metabolism and Selenoproteins, organism-specific biosystem (from WikiPathways)
      Selenium Metabolism and Selenoproteins, organism-specific biosystem* Comments belonging to specific genes on the Selenoprotein pathway ** TRXND3 gene: Although the geneID is correct, the sequence of this gene was guessed by analogy. ** Cystathionine gamma-lyase is t...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    PERK-mediated unfolded protein response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    PERK-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
    PubMed 
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    cell redox homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to fluid shear stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to glucose starvation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hydrogen peroxide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to laminar fluid shear stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to oxidative stress NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cellular response to oxidative stress TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to tumor necrosis factor IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endoplasmic reticulum unfolded protein response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cardiac muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endothelial cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of hematopoietic stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of hydrogen peroxide-induced cell death IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of vascular associated smooth muscle cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ER-associated ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of blood vessel endothelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of glucose import IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of glutathione biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter in response to stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteasomal ubiquitin-independent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of removal of superoxide radicals IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    centrosome IDA
    Inferred from Direct Assay
    more info
     
    chromatin IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    protein-DNA complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    nuclear factor erythroid 2-related factor 2
    Names
    nuclear factor erythroid-derived 2-like 2

    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/Swiss-Prot
      Q16236
      Related
      ENSP00000380253, OTTHUMP00000164989, ENST00000397063, OTTHUMT00000257753
      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/Swiss-Prot
      Q16236
      Related
      ENSP00000411575, OTTHUMP00000205250, ENST00000446151, OTTHUMT00000334263
      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
      pfam06886
      Location:2558
      TPX2; Targeting protein for Xklp2 (TPX2)
    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/Swiss-Prot
      Q16236
      Related
      ENSP00000467401, OTTHUMP00000268577, ENST00000464747, OTTHUMT00000257754
      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/Swiss-Prot
      Q16236
      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_001313902.1NP_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, AW471118, BI910808
      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_001313903.1NP_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, AW471118, BP228042
      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
      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_006164.4NP_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)
      AK314816, AW471118, BC011558, DA438735
      Consensus CDS
      CCDS42782.1
      UniProtKB/Swiss-Prot
      Q16236
      Related
      ENSP00000380252, OTTHUMP00000164988, ENST00000397062, OTTHUMT00000257752
      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:4174
      TPX2; Targeting protein for Xklp2 (TPX2)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      177230303..177265131 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      178100863..178135685 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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