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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NFE2L2 Gene

protein-coding   GIFtS: 66
GCID: GC02M178092

Nuclear Factor, Erythroid 2-Like 2

(Previous name: nuclear factor (erythroid-derived 2)-like 2)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Nuclear Factor, Erythroid 2-Like 21 2     HEBP12 3
NF-E2-Related Factor 21 2 3     NFE2-Related Factor 22 3
NRF22 3 5     Nuclear Factor Erythroid 2-Related Factor 22
Nuclear Factor (Erythroid-Derived 2)-Like 21 2     Nuclear Factor Erythroid-Derived 2-Like 22
Nuclear Factor, Erythroid Derived 2, Like 22 3     

External Ids:    HGNC: 77821   Entrez Gene: 47802   Ensembl: ENSG000001160447   OMIM: 6004925   UniProtKB: Q162363   
ORGUL members:         
NONCODE14:n407502 n345555 n344632      

Export aliases for NFE2L2 gene to outside databases

Previous GC identifers: GC02M176157 GC02M176766 GC02M178059 GC02M178297 GC02M177920 GC02M177803 GC02M169966


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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
found for this gene. (provided by RefSeq, Jan 2012)

GeneCards Summary for NFE2L2 Gene: 
NFE2L2 (nuclear factor, erythroid 2-like 2) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with NFE2L2 include papillary adenocarcinoma, and hepatoblastoma. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein domain specific binding. An important paralog of this gene is BACH2.

UniProtKB/Swiss-Prot: NF2L2_HUMAN, Q16236
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. 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NFE2L2 gene promoter:
         SRY   AML1a   PPAR-gamma2   NF-kappaB1   Evi-1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NFE2L2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NFE2L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFE2L2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q31   Ensembl cytogenetic band:  2q31.2   HGNC cytogenetic band: 2q31

NFE2L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFE2L2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M178092:  view genomic region     (about GC identifiers)

Start:
178,092,323 bp from pter      End:
178,257,425 bp from pter
Size:
165,103 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for NFE2L2

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NF2L2_HUMAN, Q16236 (See protein sequence)
Recommended Name: Nuclear factor erythroid 2-related factor 2  
Size: 605 amino acids; 67827 Da
Subunit: 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)
Subcellular location: Cytoplasm, cytosol. Nucleus. Note=Cytosolic under unstressed conditions, translocates into
the nucleus upon induction by electrophilic agents
Sequence caution: Sequence=AAB32188.1; Type=Erroneous initiation; Sequence=BAD92023.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for NFE2L2:
2FLU (3D)        2LZ1 (3D)        3ZGC (3D)    
Secondary accessions: B2RBU2 B4E338 E9PGJ7 Q53RW6 Q59HH2 Q96F71
Alternative splicing: 3 isoforms:  Q16236-1   Q16236-2   Q16236-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NFE2L2: NX_Q16236

Explore proteomics data for NFE2L2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation of Ser-40 by PKC in response to oxidative stress dissociates NFE2L2 from its cytoplasmic inhibitor
    KEAP1, promoting its translocation into the nucleus (By similarity)
  • UniProtKB: Acetylation at Lys-596 and Lys-599 increases nuclear localization whereas deacetylation by SIRT1 enhances
    cytoplasmic presence
  • UniProtKB: Ubiquitinated by the KEAP1-CUL3-RBX1 E3 ubiquitin ligase complex and subject to proteasomal degradation.
    Ubiquitination is inhibited by sulforaphane
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16236

  • NFE2L2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NFE2L2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001138884.1  NP_001138885.1  NP_006155.2  

    ENSEMBL proteins: 
     ENSP00000416308   ENSP00000380253   ENSP00000380252   ENSP00000411575   ENSP00000467401  
     ENSP00000391590   ENSP00000400073   ENSP00000391291   ENSP00000464920   ENSP00000412191  
     ENSP00000410015   ENSP00000468089  

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    Cloud-Clone Corp. Proteins for NFE2L2 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin IEA--
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0005829cytosol IDA--

    NFE2L2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bZIP: basic leucine zipper proteins

    2 InterPro protein domains:
     IPR004827 bZIP
     IPR008917 Euk_TF_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q16236

    ProtoNet protein and cluster: Q16236

    1 Blocks protein domain: IPB011616 bZIP transcription factor

    UniProtKB/Swiss-Prot: NF2L2_HUMAN, Q16236
    Domain: Acidic activation domain in the N-terminus, and DNA binding domain in the C-terminus
    Similarity: Belongs to the bZIP family. CNC subfamily
    Similarity: Contains 1 bZIP (basic-leucine zipper) domain


    NFE2L2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NF2L2_HUMAN, Q16236
    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. 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
    Induction: Down-regulated by ENC1 via a proteasomal ubiquitin-independent protein catabolic process

         Genatlas biochemistry entry for NFE2L2:
    nuclear factor,erythroid derived 2-like 2,Cap'n'collar (CNC) family of transcription factor,NF-E2-like

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001102RNA polymerase II activating transcription factor binding IPI--
    GO:0003677DNA binding IDA18554677
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI16888629
    GO:0019904protein domain specific binding IPI11256947
         
    NFE2L2 for ontologies           About GeneDecksing


    Phenotypes:
         15/18 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Nfe2l2) (see all 18):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  nervous system  normal 

    NFE2L2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NFE2L2: Nfe2l2tm1Ney Nfe2l2tm1Ywk

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NFE2L2 
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    SwitchGear 3'UTR luciferase reporter plasmidNFE2L2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NFE2L2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Selenium Metabolism and Selenoproteins
    Selenium Metabolism and Selenoproteins
    2Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    3Oxidative Stress
    Oxidative Stress
    4Keap1-Nrf2 Pathway
    Keap1-Nrf2 Pathway
    5AhR pathway
    AhR pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for NFE2L2
        Translational Control

    4 BioSystems Pathways for NFE2L2
        Keap1-Nrf2 Pathway
    Selenium Metabolism and Selenoproteins
    Oxidative Stress
    AhR pathway


    1         Kegg Pathway  (Kegg details for NFE2L2):
        Protein processing in endoplasmic reticulum


    NFE2L2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NFE2L2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/53 Interacting proteins for NFE2L2 (Q162362, 3 ENSP000003802524) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KEAP1Q141452, 3, ENSP000001711114MINT-2844533 MINT-2844673 MINT-2879967 MINT-2844569 MINT-2844482 MINT-2844810 MINT-2844754 MINT-2844512 MINT-2844647 MINT-2879989 MINT-2844621 MINT-2844789 MINT-2844595 MINT-2844725 MINT-2844455 MINT-2844699 I2D: score=5 STRING: ENSP00000171111
    EEF1GP266412, 3MINT-8207313 I2D: score=1 
    JUNP054123, ENSP000003602664I2D: score=5 STRING: ENSP00000360266
    MAFGO155253, ENSP000003503694I2D: score=4 STRING: ENSP00000350369
    JUNDP175353, ENSP000002528184I2D: score=3 STRING: ENSP00000252818
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS7937919
    GO:0010499proteasomal ubiquitin-independent protein catabolic process IDA19424503
    GO:0016567protein ubiquitination IDA15983046
    GO:0030194positive regulation of blood coagulation IEA--

    NFE2L2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NFE2L2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NFE2L2 (NF2L2)

    10/92 Novoseek inferred chemical compound relationships for NFE2L2 gene (see all 92)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tbhq 93.4 106 20175231 (6), 17048120 (5), 18417180 (3), 15988009 (3) (see all 30)
    sulforaphane 89.4 70 18633117 (4), 20175231 (4), 18417180 (3), 15826493 (3) (see all 26)
    gamma-glutamylcysteine 79.2 11 19236154 (1), 11909699 (1), 17158454 (1), 16631525 (1) (see all 9)
    oltipraz 72.2 18 18474683 (4), 16714377 (3), 19821532 (2), 15870285 (1)
    n acetylcysteine 70.8 28 20384467 (2), 17142801 (1), 11909699 (1), 18928848 (1) (see all 16)
    androstane 66.2 3 16399343 (1), 16837569 (1), 15858847 (1)
    oxygen 63.7 47 19734219 (2), 17142801 (1), 17266519 (1), 17822364 (1) (see all 32)
    15-deoxy-delta-12,14-prostaglandin j2 63.6 16 19723058 (3), 18775681 (2), 20064636 (2), 16987499 (1) (see all 7)
    cobalt protoporphyrin 61.2 1 17065227 (1)
    xanthohumol 60.2 1 16097803 (1)

    Search CenterWatch for drugs/clinical trials and news about NFE2L2 / NF2L2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for NFE2L2 gene (3 alternative transcripts): 
    NM_001145412.2  NM_001145413.2  NM_006164.4  

    Unigene Cluster for NFE2L2:

    Nuclear factor (erythroid-derived 2)-like 2
    Hs.744006  [show with all ESTs]
    Unigene Representative Sequence: NM_006164
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000458603 ENST00000397063(uc002ulg.4 uc010zfa.2) ENST00000397062(uc002ulh.4)
    ENST00000446151 ENST00000464747(uc002uli.4) ENST00000449627 ENST00000448782
    ENST00000430047 ENST00000586532 ENST00000421929 ENST00000423513(uc010fra.3)
    ENST00000588123 ENST00000477534(uc010frb.3) ENST00000462023

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    Additional mRNA sequence: 

    AB208786.1 AF323119.1 AK297838.1 AK304555.1 AK310656.1 AK310841.1 AK311395.1 AK311688.1 
    AK314816.1 AK316148.1 BC011558.1 BX649047.1 BX649071.1 HM446346.1 S74017.1 

    24/30 DOTS entries (see all 30):

    DT.100883523  DT.70103701  DT.121021385  DT.92448189  DT.95288997  DT.99990806  DT.121021487  DT.101984362 
    DT.454685  DT.121021480  DT.100883517  DT.121021362  DT.121021367  DT.91814259  DT.97794292  DT.121021624 
    DT.100736441  DT.100821389  DT.121021455  DT.40195544  DT.92448191  DT.92448194  DT.100001108  DT.121021506 

    24/629 AceView cDNA sequences (see all 629):

    BG572345 CA444633 AI283937 BU902220 BM726340 BM013970 AI572307 AU135757 
    AW512933 W45505 BM978416 Z38956 BQ268118 CB850527 CB121882 BE079463 
    CB268651 CB850991 AW296144 BQ898215 AU185335 BG292004 CB116807 AA032072 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for NFE2L2 (see all 13)    About this scheme

    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:                                                                                                                                                            

    ExUns: 19 ^ 20 ^ 21a · 21b ^ 22a · 22b
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:              -                     


    ECgene alternative splicing isoforms for NFE2L2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NFE2L2 expression in normal human tissues (normalized intensities)      NFE2L2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTACGTGATG
    NFE2L2 Expression
    About this image


    NFE2L2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             Ureter
             visceral organ   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See NFE2L2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NFE2L2

    SOURCE GeneReport for Unigene cluster: Hs.744006

    UniProtKB/Swiss-Prot: NF2L2_HUMAN, Q16236
    Tissue specificity: Widely expressed. Highest expression in adult muscle, kidney, lung, liver and in fetal muscle

        SABiosciences Custom PCR Arrays for NFE2L2
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NFE2L2 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nfe2l21 , 5 nuclear factor, erythroid derived 2, like 21, 5 83.36(n)1
    82.52(a)1
      2 (44.75 cM)5
    180241  NM_010902.31  NP_035032.11 
     756755135 
    chicken
    (Gallus gallus)
    Aves NFE2L21 nuclear factor (erythroid-derived 2)-like 2 72.56(n)
    67.42(a)
      396014  NM_205117.1  NP_990448.1 
    lizard
    (Anolis carolinensis)
    Reptilia NFE2L26
    Uncharacterized protein
    60(a)
    1 ↔ 1
    GL343411.1(494162-534175)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC043997.12   -- 73.41(n)    BC043997.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045852.12   -- 71.97(n)   360149  BC045852.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cnc3 blastoderm segmentation transcription
    factor
    50(a)     --


    ENSEMBL Gene Tree for NFE2L2 (if available)
    TreeFam Gene Tree for NFE2L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NFE2L2 gene
    BACH22  NFE2L32  BACH12  NFE2L12  NFE22  
    2 SIMAP similar genes for NFE2L2 using alignment to 10 protein entries:     NF2L2_HUMAN (see all proteins):
    NFE2L1    FLJ00380

    NFE2L2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NFE2L2
    PGOHUM00000240273


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/696 SNPs in NFE2L2 are shown (see all 696)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs786777421,2
    C,F--178094564(+) CACACC/TTTCAA 3 -- int11Minor allele frequency- T:0.01NA 120
    rs1141469421,2
    C,F--178094572(+) CAAATG/ATTGCC 3 -- int11Minor allele frequency- A:0.14WA 118
    rs1384319041,2
    --178094611(+) CCTTAA/GGTTGT 3 -- int10--------
    rs76036911,2
    C,H--178094622(+) GACGCT/CTTTTA 3 -- int15Minor allele frequency- C:0.00NS EA CSA 422
    rs803240851,2
    F--178094714(+) AGGCAG/AGGATA 3 -- int11Minor allele frequency- A:0.01NA 120
    rs1472460521,2
    --178094764(+) TAGTGA/GGCGTA 3 -- int10--------
    rs113707321,2
    C--178094964(+) AACAT-/CCTAAA 3 -- int10--------
    rs342614741,2
    F--178094967(-) TAATT-/GTANGA 3 -- int15Minor allele frequency- G:0.02MN 384
    rs1441905191,2
    C--178095000(+) AATAC-/TGTGTGA 3 -- int10--------
    rs359115531,2
    C,F--178095045(-) ATTATG/AACTGT 3 -- ut315Minor allele frequency- A:0.01MN 368

    HapMap Linkage Disequilibrium report for NFE2L2 (178092323 - 178257425 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NFE2L2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv834465CNV Loss17160897


    Human Gene Mutation Database (HGMD): NFE2L2
    5/19 SABiosciences Cancer Mutation PCR Assays for NFE2L2 (see all 19):
    Cosmic IdAA Change
    132846p.V32G
    132854p.L30F
    132860p.E82D
    132956p.G31A
    132847p.R34G
    SeqTarget long-range PCR primers for resequencing NFE2L2
    DNA2.0 Custom Variant and Variant Library Synthesis for NFE2L2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600492    OMIM disorders: --

    20/70 diseases for NFE2L2 (see all 70):    About MalaCards
    papillary adenocarcinoma    hepatoblastoma    traumatic brain injury    friedreich ataxia
    gallbladder cancer    peptic ulcer    brain injury    corneal dystrophy
    vascular disease    venous thromboembolism    vitiligo    thromboembolism
    lung squamous cell carcinoma    non-small cell lung carcinoma    pulmonary fibrosis    spinal cord injury
    idiopathic pulmonary fibrosis    ependymoma    ischemia    chronic obstructive pulmonary disease

    1 disease from the University of Copenhagen DISEASES database for NFE2L2:
    Parkinson's disease

    NFE2L2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/31 Novoseek inferred disease relationships for NFE2L2 gene (see all 31)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 47.9 72 18838122 (4), 18413364 (4), 19417020 (3), 19967722 (2) (see all 40)
    neurodegenerative diseases 35.9 7 15469687 (1), 17145701 (1), 19573594 (1), 19082951 (1) (see all 7)
    inflammation 32.1 13 19359988 (2), 16246346 (1), 16487040 (1), 17145701 (1) (see all 7)
    cell damage 32 2 20405857 (1), 17980396 (1)
    chemical carcinogenesis 27.1 1 16543142 (1)
    vascular diseases 21.3 3 18633117 (1), 17263901 (1)
    necrosis 19.8 7 17275675 (1), 17303087 (1), 17724089 (1), 18210237 (1) (see all 6)
    colon cancer 18.7 7 19734940 (2), 19524433 (2), 16620709 (2), 19719968 (1)
    atherosclerosis 16.1 3 15917255 (2)
    chemically induced 15.3 3 17512459 (1), 20501860 (1)

    Genetic Association Database (GAD): NFE2L2
    Human Genome Epidemiology (HuGE) Navigator: NFE2L2 (23 documents)

    Export disorders for NFE2L2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NFE2L2 gene, integrated from 9 sources (see all 840):
    (articles sorted by number of sources associating them with NFE2L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 7937919)1, 2, 3, 9 Moi P.... Kan Y.W. (1994)
    2. NFE2L2 gene mutation in male Japanese squamous cell c arcinoma of the lung. (PubMed id 20421815)1, 4, 9 Sasaki H....Fujii Y. (2010)
    3. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PubMed id 19424503)1, 2, 9 Wang X.J. and Zhang D.D. (2009)
    4. 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. (PubMed id 11256947)1, 2, 9 Wang Y.... Casero R.A. Jr. (2001)
    5. Regulation of the antioxidant response element by protein kinase C- mediated phosphorylation of NF-E2-related factor 2. (PubMed id 11035812)1, 2, 9 Huang H.-C.... Pickett C.B. (2000)
    6. Structure of the Keap1:Nrf2 interface provides mechanistic insight into Nrf2 signaling. (PubMed id 16888629)1, 2, 9 Lo S.-C.... Hannink M. (2006)
    7. PGAM5 tethers a ternary complex containing Keap1 and Nrf2 to mitochondria. (PubMed id 18387606)1, 2, 9 Lo S.-C. and Hannink M. (2008)
    8. Genetic variability in iron-related oxidative stress pathways (Nrf2, NQ01, NOS3, and HO-1), iron intake, and risk of postmenopausal breast cancer. (PubMed id 17726138)1, 4, 9 Hong C.C....Calle E.E. (2007)
    9. Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway. (PubMed id 15983046)1, 2, 9 Zhang D.D.... Hannink M. (2005)
    10. Effect of NFE2L2 genetic polymorphism on the associat ion between oral estrogen therapy and the risk of venous thromboembolism in pos tmenopausal women. (PubMed id 21107315)1, 4 Bouligand J....Scarabin P.Y. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4780 HGNC: 7782 AceView: NFE2L2andDKFZp451M2119 Ensembl:ENSG00000116044 euGenes: HUgn4780
    ECgene: NFE2L2 Kegg: 4780 H-InvDB: NFE2L2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NFE2L2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NFE2L2 gene:
    Search GeneIP for patents involving NFE2L2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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