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

Gene ID: 4780, updated on 5-Jul-2020

Summary

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 MIM:600492
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

Genomic context

See NFE2L2 in Genome Data Viewer
Location:
2q31.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 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 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II activating transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription cofactor binding IEA
Inferred from Electronic Annotation
more info
 
transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region sequence-specific DNA binding TAS
Traceable Author Statement
more info
PubMed 
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 
aflatoxin catabolic process IEA
Inferred from Electronic Annotation
more info
 
aging IEA
Inferred from Electronic Annotation
more info
 
cell redox homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to angiotensin IEA
Inferred from Electronic Annotation
more info
 
cellular response to copper ion 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 laminar fluid shear stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to oxidative stress IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to oxidative stress ISS
Inferred from Sequence or Structural Similarity
more info
 
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 gene expression IMP
Inferred from Mutant Phenotype
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 by RNA polymerase II IC
Inferred by Curator
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter in response to hypoxia 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 
positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
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
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    ENSP00000380253.4, ENST00000397063.8
    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
    ENSP00000411575.2, 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
    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
    ENSP00000467401.1, ENST00000464747.5
    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_006164.5NP_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
    Q16236
    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:4174
    TPX2; Targeting protein for Xklp2 (TPX2)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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