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

NFE2L3 Gene

protein-coding   GIFtS: 52
GCID: GC07P026158

nuclear factor (erythroid-derived 2)-like 3

 Explore 6 diseases affiliated with
NFE2L3 via our new
 Human Malady Compendium 
Biological research products
for NFE2L3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Nuclear Factor (Erythroid-Derived 2)-Like 31 2     Nrf31
NRF32 3 5     Nuclear Factor Erythroid 2-Related Factor 32
Nuclear Factor, Erythroid Derived 2, Like 32 3     Nuclear Factor-Erythroid 2 P45-Related Factor 32
NF-E2-Related Factor 32 3     Nuclear Factor-Erythroid 2-Related Factor 32
NFE2-Related Factor 32 3     

External Ids:    HGNC: 77831   Entrez Gene: 96032   Ensembl: ENSG000000503447   OMIM: 6041355   UniProtKB: Q9Y4A83   

Export aliases for NFE2L3 gene to outside databases

Previous GC identifers: GC07P025834 GC07P025934 GC07P025965


(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 NFE2L3:
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)

UniProtKB/Swiss-Prot: NF2L3_HUMAN, Q9Y4A8
Function: Activates erythroid-specific, globin gene expression

Gene Wiki entry for NFE2L3


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NFE2L3 gene promoter:
         Pax-5   NCX/Ncx   MyoD   POU3F2   Arnt   Egr-2   POU2F1   POU2F1a   FOXO1a   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for NFE2L3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFE2L3


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

Entrez Gene cytogenetic band: 7p15.2   Ensembl cytogenetic band:  7p15.2   HGNC cytogenetic band: 7p15.2

NFE2L3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFE2L3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P026158:  view genomic region     (about GC identifiers)

Start:
26,191,847 bp from pter      End:
26,226,757 bp from pter
Size:
34,911 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 26,242,879-26,277,907     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NF2L3_HUMAN, Q9Y4A8 (See protein sequence)
Recommended Name: Nuclear factor erythroid 2-related factor 3  
Size: 694 amino acids; 76154 Da
Subunit: Heterodimer with MAFG, MAFK and other small MAF proteins that binds to the MAF recognition elements (MARE)
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=AAP22344.1; Type=Erroneous gene model prediction; Sequence=BAA76288.1; Type=Erroneous
initiation;
Secondary accessions: Q6NUS0 Q7Z498 Q86UJ4 Q86VR5 Q9UQA4

Explore the universe of human proteins at neXtProt for NFE2L3: NX_Q9Y4A8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y4A8

  • NFE2L3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004280.5  
    ENSEMBL proteins: 
     ENSP00000056233  

    Human Recombinant Protein Products: 
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    Uscn Proteins for NFE2L3

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    NFE2L3 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NFE2L3 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR004827 bZIP
     IPR008917 Euk_TF_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q9Y4A8

    ProtoNet protein and cluster: Q9Y4A8

    1 Blocks protein family: IPB011616 bZIP transcription factor

    UniProtKB/Swiss-Prot: NF2L3_HUMAN, Q9Y4A8
    Similarity: Belongs to the bZIP family. CNC subfamily
    Similarity: Contains 1 bZIP (basic-leucine zipper) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: NF2L3_HUMAN, Q9Y4A8
    Function: Activates erythroid-specific, globin gene expression

         Genatlas biochemistry entry for NFE2L3:
    nuclear factor (erythroid-derived 2)-like 3,Cap'n'collar (CNC) family of transcription factor,highly expressed in
    placenta,B cell and monocyte lineage

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    SwitchGear 3'UTR luciferase reporter plasmidNFE2L3 3' UTR sequence
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003713transcription coactivator activity TAS10037736
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046983protein dimerization activity ----


    NFE2L3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Nfe2l3tm1Vbl for NFE2L3
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nfe2l3):
     mortality/aging  normal 

    NFE2L3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NFE2L3

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for NFE2L3 (Q9Y4A83 ENSP000000562334) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAFKO606753, ENSP000003449034I2D: score=3 STRING: ENSP00000344903
    MAFGO155253I2D: score=1 
    NFE2Q166213I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS10037736


    NFE2L3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NFE2L3
    Search CenterWatch for drugs/clinical trials and news about NFE2L3 / NF2L3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NFE2L3 gene: 
    NM_004289.6  

    Unigene Clusters for NFE2L3:

    Nuclear factor (erythroid-derived 2)-like 3
    Hs.404741  [show with all ESTs], Hs.712898  [show with all ESTs]
    Unigene Representative Sequences: NM_004289, BE540023
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000056233(uc003sxq.3)

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    Inhib. RNA
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    Additional cDNA sequence: BC008645.1 

    5 DOTS entries:

    DT.453116  DT.100790432  DT.100840048  DT.100653634  DT.101958724 

    24/132 AceView cDNA sequences (see all 132):

    AF133059 CB160489 AA962733 AA603252 AI701886 BX396198 AW662710 AA305111 
    BG178514 BM142211 BU690027 CR595336 BF589057 BE042803 AA501998 CB160493 
    BM784805 AI621283 AI919099 CA776025 AA331415 AA132523 BC056142 CB161133 

    GeneLoc Exon Structure


    (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

    NFE2L3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAACCCAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    NFE2L3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainCerebral CortexBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Posterior foregut-like cells (A scalable, suspensi...)

    See NFE2L3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NFE2L3

    SOURCE GeneReport for Unigene clusters: Hs.404741 Hs.712898

    UniProtKB/Swiss-Prot: NF2L3_HUMAN, Q9Y4A8
    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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFE2L3

    (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 NFE2L3 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia NFE2L36
    --
    42(a)
    1 ↔ 1
    6(31847527-31848558)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.171622 Transcribed sequence with weak similarity to protein more 71.6(n)    142021309 
    zebrafish
    (Danio rerio)
    Actinopterygii nfe2l36
    si:dkey-3d18.46
    si:dkey-3d18.4
    24(a)
    20(a)
    1 ↔ 1
    possible ortholog
    19(20278282-20287096)
    6(10799745-10813863)
    fruit fly
    (Drosophila melanogaster)
    Insecta cnc3 blastoderm segmentation transcription factor 48(a)     --


    ENSEMBL Gene Tree for NFE2L3 (if available)
    TreeFam Gene Tree for NFE2L3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NFE2L3 gene
    NFE2L12  BACH22  BACH12  NFE22  NFE2L22  
    3 SIMAP similar genes for NFE2L3 using alignment to 2 protein entries:     NF2L3_HUMAN (see all proteins):
    NFE2    NFE2L1    FLJ00380

    NFE2L3 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for NFE2L3
    PGOHUM00000248159 PGOHUM00000249118 PGOHUM00000237425 PGOHUM00000235077


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/649 NCBI SNPs in NFE2L3 are shown (see all 649    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1869832101,2
    --26189866(+) TGCTTA/TTGAAG 1 -- us2k10--------
    rs1894848811,2
    --26189900(+) CACTAC/TGATTA 1 -- us2k10--------
    rs1409826481,2
    --26190034(+) CAATTC/TAACTA 1 -- us2k10--------
    rs47225871,2
    C,F,H,--26190086(+) GCACCA/GCCTTG 1 -- us2k122Minor allele frequency- G:0.03NS EA NA WA CSA 1593
    rs132286461,2
    C,F,H,--26190193(+) TTCTCT/CTGTTT 1 -- us2k1 tfbs323Minor allele frequency- C:0.30NS EA NA WA 2754
    rs1807314851,2
    --26190267(+) AACTCC/TGTTTC 1 -- us2k10--------
    rs559700001,2
    C,--26190344(+) CATTTA/CCTAAG 1 -- us2k10--------
    rs1464932661,2
    --26190446(+) CCAACC/TCATCT 1 -- us2k10--------
    rs37576731,2
    C,F,H,--26190616(-) GGGCAG/CTTGTG 1 -- us2k16Minor allele frequency- C:0.07EA NS 2028
    rs744606701,2
    C,--26190652(+) TCCCCT/CTTTCT 1 -- us2k12Minor allele frequency- C:0.04CSA WA 120

    HapMap Linkage Disequilibrium report for NFE2L3 (26191847 - 26226757 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for NFE2L3
         3 CNVs: 81891 94424 64786
         1 Indel: 28613

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NFE2L3 for disorders           About GeneDecksing

    OMIM gene information: 604135    OMIM disorders: --

    6 diseases for NFE2L3:    About MalaCards
    fibrosarcoma    gestational choriocarcinoma    placental cancer    hepatitis b
    choriocarcinoma    hepatitis

    Human Genome Epidemiology (HuGE) Navigator: NFE2L3 (7 documents)

    Export disorders for NFE2L3 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 NFE2L3 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with NFE2L3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and functional characterization of a new Cap'n' collar family transcription factor Nrf3. (PubMed id 10037736)1, 2, 3, 9 Kobayashi A.... Yamamoto M. (1999)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    4. Functional and placental expression analysis of the human NRF3 transcription factor. (PubMed id 15388789)1, 9 Chenais B....Blank V. (2005)
    5. Endoplasmic reticulum association and N-linked glycosylation of the human Nrf3 transcription factor. (PubMed id 17976382)1, 9 Nouhi Z....Blank V. (2007)
    6. Expression of transcription factors during megakaryocytic differentiation of CD34+ cells from human cord blood induced by thrombopoietin. (PubMed id 11286316)1, 9 Terui K....Ito E. (2000)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distr ibution. (PubMed id 20935629)1 Heid I.M....Lindgren C.M. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9603 HGNC: 7783 AceView: NFE2L3 Ensembl:ENSG00000050344 euGenes: HUgn9603
    ECgene: NFE2L3 H-InvDB: NFE2L3

    (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 NFE2L3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NFE2L3 gene:
    Search GeneIP for patents involving NFE2L3

    GeneCards and IP:
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