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

NFE2 Gene

protein-coding   GIFtS: 61
GCID: GC12M054685

nuclear factor (erythroid-derived 2), 45kDa

(Previous names: nuclear factor (erythroid-derived 2), 45kD )
 Explore 10 diseases affiliated with
NFE2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NFE2    

Aliases
for NFE2 gene

(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), 45kDa1 2     P45 NF-E22 3
NF-E21 2     Nuclear Factor (Erythroid-Derived 2), 45kD1
Leucine Zipper Protein NF-E22 3     P451
Nuclear Factor, Erythroid-Derived 2 45 KDa Subunit2 3     Transcription Factor NF-E2 45 KDa Subunit2

External Ids:    HGNC: 77801   Entrez Gene: 47782   Ensembl: ENSG000001234057   OMIM: 6014905   UniProtKB: Q166213   

Export aliases for NFE2 gene to outside databases

Previous GC identifers: GC12M054813 GC12M054402 GC12M052972 GC12M051725


Summaries
for NFE2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: NFE2_HUMAN, Q16621
Function: Component of the NF-E2 complex essential for regulating erythroid and megakaryocytic maturation and
differentiation. Binds to the hypersensitive site 2 (HS2) of the beta-globin control region (LCR). This subunit (NFE2)
recognizes the TCAT/C sequence of the AP-1-like core palindrome present in a number of erythroid and megakaryocytic
gene promoters. Requires MAFK or other small MAF proteins for binding to the NF-E2 motif. May play a role in all
aspects of hemoglobin production from globin and heme synthesis to procurement of iron

Gene Wiki entry for NFE2


Genomic Views
for NFE2 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NFE2 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NFE2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NFE2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFE2


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13

NFE2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFE2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M054685:  view genomic region     (about GC identifiers)

Start:
 54,685,895 bp from pter      End:
 54,694,905 bp from pter
Size:
 9,011 bases      Orientation:
 minus strand

Proteins
for NFE2 gene

(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: NFE2_HUMAN, Q16621 (See protein sequence)
Recommended Name: Transcription factor NF-E2 45 kDa subunit  
Size: 373 amino acids; 41473 Da
Subunit: Homodimer; can bind DNA as a homodimer. Erythroid transcription activator nuclear factor erythroid-derived 2
(NF-E2), composed of a heterodimer of NFE2 and MAFK, possesses transactivation activity on beta-globin. Also forms
high affinity heterodimer with MAFG; the interaction promotes erythropoiesis. Interacts (via the PXY motif 1) with
ITCH (via the WW 1 domain); the interaction promotes 'Lys63'-linked ubiquitination of NFE2, translocates it to the
cytoplasm and inhibits its transactivation activity. Interacts with MLL2; the interaction promotes transactivation of
the beta-globin locus (By similarity). Interacts with MAPK8 (phosphorylated form); the interaction leads to
phosphorylation of NFE2 in undifferentiated cells (By similarity)
Subcellular location: Nucleus, PML body. Cytoplasm. Note=The sumoylated form locates to the nuclear bodies PML
oncogenic domains (PODs). Translocated to the cytoplasm through interaction with ITCH
2 PDB 3D structures from and Proteopedia for NFE2:
1LVX (3D)        2KZ5 (3D)    
Secondary accessions: Q07720 Q6ICV9

Explore the universe of human proteins at neXtProt for NFE2: NX_Q16621

Post-translational modifications:

  • Phosphorylated on serine residues (By similarity). In undifferentiated erythrocytes, phosphorylated by MAPK8 which then
    • leads to ubiquitination and protein degradation (By similarity)1
  • Sumoylated. Sumoylation is required for translocation to nuclear bodies PODs, anchoring to the gene loci, and
    • transactivation of the beta-globin gene1
  • Ubiquitinated mainly by 'Lys63'-linked ubiquitin. Polyubiquitination with 'Lys63'-linked ubiquitin by ITCH retains NFE2
    • in the cytoplasm preventing its transactivation activity. In undifferentiated erythrocyte, ubiquitinated after
    MAPK8-mediatd phosphorylation leading to protein degradation (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16621

    • NFE2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001129495.1  NP_001248390.1  NP_006154.1  

    ENSEMBL proteins: 
     ENSP00000312436   ENSP00000397185   ENSP00000439120   ENSP00000447558   ENSP00000446929  
    Reactome Protein details: Q16621
    Human Recombinant Protein Products: 
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    Novus Biologicals NFE2 Proteins
    Novus Biologicals NFE2 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for NFE2

    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:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0015629actin cytoskeleton IDA--


    NFE2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NFE2

    Protein Domains /
    Families
    for NFE2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NFE2 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q16621

    ProtoNet protein and cluster: Q16621

    1 Blocks protein family: IPB011616 bZIP transcription factor

    UniProtKB/Swiss-Prot: NFE2_HUMAN, Q16621
    Domain: The PXY motifs are required for binding WW domains. PXY1 is required to promote transactivation of beta-globin
    and for hyperacetylation of histone H3, but not for binding to the HS2 promoter site (By similarity)
    Similarity: Belongs to the bZIP family. CNC subfamily
    Similarity: Contains 1 bZIP (basic-leucine zipper) domain


    Function
    for NFE2 gene

    (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: NFE2_HUMAN, Q16621
    Function: Component of the NF-E2 complex essential for regulating erythroid and megakaryocytic maturation and
    differentiation. Binds to the hypersensitive site 2 (HS2) of the beta-globin control region (LCR). This subunit (NFE2)
    recognizes the TCAT/C sequence of the AP-1-like core palindrome present in a number of erythroid and megakaryocytic
    gene promoters. Requires MAFK or other small MAF proteins for binding to the NF-E2 motif. May play a role in all
    aspects of hemoglobin production from globin and heme synthesis to procurement of iron

         Genatlas biochemistry entry for NFE2:
    nuclear factor,erythroid derived NF-E2 Cap'n'collar (CNC) family of transcription factor,dimerizing with TFCP2 to form
    the stage selector protein complex,binding to LCR of globin loci

    10/281 SABiosciences Target genes for NFE2 (see all 281):
    ACPP ACYP2 AKNA ALG13 AMHR2 AMZ2 ANO1 APCS ASIP ASXL1

    miRNA
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    hsa-miR-374a* hsa-miR-361-5p
    SwitchGear 3'UTR luciferase reporter plasmid: NFE2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003713transcription coactivator activity TAS8355703
    GO:0043565sequence-specific DNA binding TAS9305852
    GO:0046983protein dimerization activity ----
    GO:0047485protein N-terminus binding IPI11863372


    NFE2 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for NFE2:
     Decreased viability with pacli  Increased circadian period len 

    Animal Models:
         Mouse knock-out Nfe2tm1Sho for NFE2
         8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Nfe2):
     cardiovascular system  growth/size  hematopoietic system  immune system  integument 
     mortality/aging  skeleton  tumorigenesis 

    NFE2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NFE2 gene

    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Factors involved in megakaryocyte development and platelet production
    		Factors involved in megakaryocyte development and platelet production1.00
    2Platelet activation, signaling and aggregation
    		Hemostasis0.43

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2        Reactome Pathways for NFE2
        Hemostasis
    Factors involved in megakaryocyte development and platelet production



    NFE2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NFE2

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

    5/89 Interacting proteins for NFE2 (Q166212, 3 ENSP000003124364) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAFGO155253, ENSP000003503694I2D: score=3 STRING: ENSP00000350369
    CREBBPQ927933, ENSP000002623674I2D: score=2 STRING: ENSP00000262367
    ITCHQ96J023, ENSP000003639984I2D: score=2 STRING: ENSP00000363998
    MAPK8P459833, ENSP000003534834I2D: score=2 STRING: ENSP00000353483
    NFE2L2Q162363, ENSP000003802524I2D: score=2 STRING: ENSP00000380252
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006337nucleosome disassembly TAS9305852
    GO:0006351transcription, DNA-dependent TAS9305852
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS8355703
    GO:0007267cell-cell signaling IEA--
    GO:0007275multicellular organismal development TAS7774011


    NFE2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NFE2 gene

    (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

    NFE2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NFE2

    2 HMDB Compounds for NFE2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    IronArmco iron (see all 19)7439-89-6--
    10/12 Novoseek chemical compound relationships for NFE2 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    porphobilinogen 75.3 5 2266112 (1), 14757314 (1), 10449186 (1), 8602880 (1) (see all 5)
    aclacinomycin 66.4 5 9389364 (2), 8602880 (2)
    butyrate 37 7 9918824 (3), 14757314 (1), 14769215 (1), 10449186 (1) (see all 5)
    thromboxane 32.2 3 12694255 (1), 10823275 (1), 12200693 (1)
    3beta-hydroxysteroid 28.3 2 14665668 (1), 16102038 (1)
    leucine 25.9 3 9565602 (1), 7937919 (1), 9625807 (1)
    oligonucleotide 16.7 3 8920981 (1), 11471548 (1), 14989762 (1)
    actinomycin d 5.44 1 12670444 (1)
    doxorubicin 2.38 4 9389364 (2), 8602880 (2)
    steroid 0 1 14665668 (1)

    Search CenterWatch for drugs/clinical trials and news about NFE2 

    Transcripts
    for NFE2 gene

    (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 NFE2 gene (3 alternative transcripts): 
    NM_001136023.2  NM_001261461.1  NM_006163.2  

    Unigene Cluster for NFE2:

    Nuclear factor (erythroid-derived 2), 45kDa
    Hs.75643  [show with all ESTs]
    Unigene Representative Sequence: AK290555
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000312156(uc001sfq.3) ENST00000435572(uc001sfr.4 uc009znl.3)
    ENST00000540264(uc009znk.3) ENST00000553070 ENST00000553198

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    hsa-miR-374a* hsa-miR-361-5p
    SwitchGear 3'UTR luciferase reporter plasmid: NFE2 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK290555.1 AK290564.1 AK313207.1 BC005044.1 BT007288.1 CR450284.1 GU068583.1 L13974.1 
    L24122.1 S77763.1 

    5 DOTS entries:

    DT.92421190  DT.87046391  DT.87046392  DT.95271625  DT.121188918 

    24/102 AceView cDNA sequences (see all 102):

    CR610867 S77763 BM728974 BQ923025 BX445340 H48815 CR620089 AA346583 
    BC005044 NM_006163 H72193 BI824392 CR621458 BI821761 L24122 CR450284 
    BX406317 AL553561 BI254284 CR590660 N62552 BX406316 T28719 BM922894 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NFE2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
    SP1:                    -     -                           
    SP2:              -     -     -                           
    SP3:                          -                           
    SP4:                                                      


    ECgene alternative splicing isoforms for NFE2

    Expression
    for NFE2 gene

    (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

    NFE2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGCCAACAGC

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

    NFE2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BloodPeripheral BloodCommon Myeloid Progenitor CellsBlood
    BloodPeripheral BloodCommon Lymphoid Progenitor CellsBlood
    LimbZeugopodPrechondrocytic Mesenchymal CellsBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Embryoid bodies (Generation and expan...)
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

    See NFE2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NFE2

    SOURCE GeneReport for Unigene cluster: Hs.75643

    UniProtKB/Swiss-Prot: NFE2_HUMAN, Q16621
    Tissue specificity: Expressed in hematopoietic cells and also in colon and testis

        SABiosciences Custom PCR Arrays for NFE2
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    In Situ
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    Orthologs
    for NFE2 gene

    (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 NFE2 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Nfe21 , 5 nuclear factor, erythroid derived 21, 5 84.99(n)1
    88.74(a)1    		   15 (58.62 cM)5
    180221  NM_008685.21  NP_032711.21 
     1032482125 
    lizard
    (Anolis carolinensis)    		 Reptilia NFE26
    		 --
    		 51(a)
    		 1 ↔ 1
    		 2(71250412-71255557)
    zebrafish
    (Danio rerio)    		 Actinopterygii nfe21 nuclear factor, erythroid-derived 2 49.85(n)
    46.9(a)    		   317765  NM_175043.2  NP_778208.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta cnc3 blastoderm segmentation transcription factor 49(a)     --


    ENSEMBL Gene Tree for NFE2 (if available)
    TreeFam Gene Tree for NFE2 (if available) 

    Paralogs
    for NFE2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NFE2 gene
    NFE2L12  NFE2L32  BACH22  BACH12  NFE2L22  
    1 SIMAP similar gene for NFE2 using alignment to 4 protein entries:     NFE2_HUMAN (see all proteins):
    NFE2L3

    NFE2 for paralogs           About GeneDecksing



    Genomic Variants
    for NFE2 gene

    (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

    10/148 NCBI SNPs in NFE2 are shown (see all 148)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs360005171,2
    		C,F,--54685612(-) TGCACG/CCCTGT 3 -- int12Minor allele frequency- C:0.02NS 90
    rs1470239741,2
    		--54685613(+) CAGGCA/GTGCAC 3 -- int10--------
    rs359798281,2
    		C,F,--54685880(-) ACTGTG/ATCTTC 3 -- int14Minor allele frequency- A:0.06NS NA 210
    rs10496851,2
    		C,F,H--54686001(-) TCAAAG/AAGGCT 3 -- ut31 ese35Minor allele frequency- A:0.00MN EA NS NA 484
    rs1409855321,2
    		--54686070(+) ACTCAA/GCTCCT 3 -- ut310--------
    rs1174644301,2
    		--54686097(+) GGGGAG/ATACCT 3 -- ut311Minor allele frequency- A:0.01NA 120
    rs346189671,2
    		C,F,--54686147(-) CCCAGA/-GGGGT 3 -- ut312Minor allele frequency- -:0.04NS 94
    rs343574771,2
    		C,F,H,--54686154(-) GAGCTG/AGCCCA 3 -- ut319Minor allele frequency- A:0.01NS NA WA 946
    rs1412510531,2
    		C,F,--54686186(+) TCCCCC/GGGGGC 6 P R mis12Minor allele frequency- G:0.00NA EU 5873
    rs1507566991,2
    		C,F--54686187(+) CCCCCG/AGGGCA 6 /R /W mis12Minor allele frequency- A:0.00NA EU 5871

    HapMap Linkage Disequilibrium report for NFE2 (54685895 - 54694905 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NFE2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NFE2
    DNA2.0 Custom Variant and Variant Library Synthesis for NFE2

    Disorders / Diseases
    for NFE2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NFE2 for disorders           About GeneDecksing

    OMIM gene information: 601490    OMIM disorders: --

    10 diseases for NFE2:    About MalaCards
    iron overload    thrombocytosis    polycythemia    lyme disease
    glanders    hematopoiesis    nasopharyngitis    leukemia
    hepatitis    carcinoma

    1 disease from the University of Copenhagen DISEASES database for NFE2:
    Thrombocytopenia

    7 Novoseek disease relationships for NFE2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythroleukemia 77.6 13 10891470 (2), 9047395 (2), 8049443 (1), 9166829 (1) (see all 10)
    polycythemia 39.3 1 19466964 (1)
    thrombocytosis 19.2 1 15801966 (1)
    thrombocytopenia 14.4 2 9292514 (1), 9675875 (1)
    leukemia 10.7 1 16114551 (1)
    iron deficiency 8.76 1 8049443 (1)
    anemia 0 1 8049443 (1)


    Export disorders for NFE2 gene to outside databases

    Publications
    for NFE2 gene

    (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 NFE2 gene, integrated from 9 sources (see all 174):
    (articles sorted by number of sources associating them with NFE2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification of the human NF-E2 complex: cDNA cloning of the hematopoietic cell-specific subunit and evidence for an associated partner. (PubMed id 8355703)1, 2, 3, 9 Ney P.A.... Neinhuis A.W. (1993)
    2. Stimulation of NF-E2 DNA binding by CREB-binding protein (CBP)- mediated acetylation. (PubMed id 11154691)1, 2, 9 Hung H.-L.... Blobel G.A. (2001)
    3. Sumoylation of p45/NF-E2: nuclear positioning and transcriptional activation of the mammalian beta-like globin gene locus. (PubMed id 16287851)1, 2, 9 Shyu Y.-C.... Shen C.-K.J. (2005)
    4. Isolation of a differentially regulated splicing isoform of human NF- E2. (PubMed id 7724591)1, 2, 9 Pischedda C....Moi P. (1995)
    5. Isolation of cDNA encoding the human NF-E2 protein. (PubMed id 8248255)1, 2, 9 Chan J.Y.... Kan Y.W. (1993)
    6. Itch regulates p45/NF-E2 in vivo by Lys63-linked ubiquitination. (PubMed id 18718448)1, 2 Lee T.L....Shen C.K. (2008)
    7. 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)
    8. Human MafG is a functional partner for p45 NF-E2 in activating globin gene expression. (PubMed id 9166829)1, 9 Blank V.... Andrews N.C. (1997)
    9. NF-E2 disrupts chromatin structure at human beta-globin locus control region hypersensitive site 2 in vitro. (PubMed id 8816476)1, 9 Armstrong J.A. and Emerson B.M. (1996)
    10. NF-E2 domination over Nrf2 promotes ROS accumulation and megakaryocytic maturation. (PubMed id 19901266)1, 9 Motohashi H....Yamamoto M. (2010)

    External Searches for NFE2 gene

    (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)

    Genome Databases showing NFE2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4778 HGNC: 7780 AceView: NFE2 Ensembl:ENSG00000123405 euGenes: HUgn4778
    ECgene: NFE2 H-InvDB: NFE2

    Other Databases showing NFE2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NFE2 gene

    (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 NFE2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NFE2 Genetics and Cytogenetics in Oncology and Haematology
    SeattleSNPshttp://pga.gs.washington.edu/data/nfe2/

    Intellectual Property
    for NFE2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NFE2 gene:
    Search GeneIP for patents involving NFE2

    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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