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NFE2 Gene

protein-coding   GIFtS: 63
GCID: GC12M054685

Nuclear Factor, Erythroid 2

(Previous names: nuclear factor (erythroid-derived 2), 45kD, nuclear factor...)
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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)
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Aliases
Nuclear Factor, Erythroid 21 2     P45 NF-E22 3
Nuclear Factor (Erythroid-Derived 2), 45kD1 2     NF-E22
Nuclear Factor (Erythroid-Derived 2), 45kDa1 2     p452
Leucine Zipper Protein NF-E22 3     Transcription Factor NF-E2 45 KDa Subunit2
Nuclear Factor, Erythroid-Derived 2 45 KDa Subunit2 3     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NFE2 Gene:
NFE2 (nuclear factor, erythroid 2) is a protein-coding gene. GO annotations related to this gene include transcription coactivator activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is BACH2.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NFE2 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNFE2 promoter sequence
   Search Chromatin IP Primers for NFE2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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 KMT2D/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)
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

Explore proteomics data for NFE2 at MOPED

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
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NFE2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    NFE2 Human Recombinant Protein Products:

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

    3 InterPro protein domains:
     IPR004827 bZIP
     IPR008917 TF_DNA-bd
     IPR004826 bZIP_Maf

    Graphical View of Domain Structure for InterPro Entry Q16621

    ProtoNet protein and cluster: Q16621

    1 Blocks protein domain: 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


    Find genes that share domains with NFE2           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003713transcription coactivator activity TAS8355703
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding TAS9305852
         
    Find genes that share ontologies with NFE2           About GenesLikeMe


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

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nfe2):
     cardiovascular system  growth/size/body  hematopoietic system  immune system  integument 
     mortality/aging  skeleton  tumorigenesis 

    Find genes that share phenotypes with NFE2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Nfe2tm1Sho for NFE2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NFE2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NFE2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NFE2

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for NFE2 (see all 273):
    ACPP,  ACYP2,  AKNA,  ALG13,  AMHR2,  AMZ2,  ANO1,  APCS,  ASIP,  ASXL1

    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  GATGACTCAGCA 

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    2 qRT-PCR Assays for microRNAs that regulate NFE2:
    hsa-miR-374a* hsa-miR-361-5p
    SwitchGear 3'UTR luciferase reporter plasmidNFE2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFE2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NFE2_HUMAN, Q16621: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4

    Gene Ontology (GO): Selected cellular component terms (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--

    Find genes that share ontologies with NFE2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NFE2 About    
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    2Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production


    Find genes that share SuperPaths with NFE2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for NFE2
        Factors involved in megakaryocyte development and platelet production


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NFE2
    Interactions:

        GeneGlobe Interaction Network for NFE2

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

    Selected Interacting proteins for NFE2 (Q166212, 3 ENSP000003124364) via UniProtKB, MINT, STRING, and/or I2D (see all 96)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    H3F3AP842433, ENSP000003557784I2D: score=1 STRING: ENSP00000355778
    H3F3BP842433, ENSP000002548104I2D: score=1 STRING: ENSP00000254810
    MAFGO155253, ENSP000003503694I2D: score=3 STRING: ENSP00000350369
    CREBBPQ927933, ENSP000002623674I2D: score=2 STRING: ENSP00000262367
    ITCHQ96J023, ENSP000003639984I2D: score=2 STRING: ENSP00000363998
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006337nucleosome disassembly TAS9305852
    GO:0006351transcription, DNA-templated TAS9305852
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS8355703
    GO:0007267cell-cell signaling IEA--

    Find genes that share ontologies with NFE2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected Novoseek inferred 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)



    Find genes that share compounds with NFE2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 102):

    CR590660 BI821761 NM_006163 L24122 H72193 CR610867 CR450284 BQ923025 
    BX406317 CR621458 H48815 S77763 BX445340 AL553561 AA346583 CR620089 
    BC005044 BI824392 BI254284 BM728974 AI660322 CN480203 BG332057 T28719 

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NFE2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCCAACAGC
    NFE2 Expression
    About this image


    NFE2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 5 entries
             Common Myeloid Progenitor Cells Hematopoietic Bone Marrow
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Prechondrocytic Mesenchymal Cells Zeugopod
             Bone Marrow
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Cartilage (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
    NFE2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NFE2 Protein Expression

    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

        Custom PCR Arrays for NFE2
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFE2

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for NFE2 gene from Selected species (see all 11)    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
    nuclear factor, erythroid 2
    54(a)
    1 ↔ 1
    2(71250412-71255557)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nfe21 nuclear factor, erythroid 2 50.71(n)
    45.93(a)
      100170151  NM_001129917.1  NP_001123389.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nfe26
    nuclear factor, erythroid-derived 2
    32(a)
    1 ↔ 1
    23(36360868-36367896) ENSDARG00000020606
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NFE2 gene
    BACH22  NFE2L32  BACH12  NFE2L12  NFE2L22  
    1 SIMAP similar gene for NFE2 using alignment to 4 protein entries:     NFE2_HUMAN (see all proteins):
    NFE2L3

    Find genes that share paralogs with NFE2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NFE2 (see all 195)    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
    C,F--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
         Database of Genomic Variants (DGV) 1 variation for NFE2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832420CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NFE2
    DNA2.0 Custom Variant and Variant Library Synthesis for NFE2

    (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.)
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    OMIM gene information: 601490    OMIM disorders: --

    2 diseases from the University of Copenhagen DISEASES database for NFE2:
    Thrombocytopenia     Polycythemia

    Find genes that share disorders with NFE2           About GenesLikeMe

    7 Novoseek inferred 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)

    Genetic Association Database (GAD): NFE2

    Export disorders for NFE2 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)
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    PubMed articles for NFE2 gene, integrated from 10 sources (see all 182):
    (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. (Mol. Cell. Biol. 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. (J. Biol. Chem. 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. (Mol. Cell. Biol. 2005)
    4. Isolation of a differentially regulated splicing isoform of human NF- E2. (PubMed id 7724591)1, 2, 9 Pischedda C....Moi P. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    5. Isolation of cDNA encoding the human NF-E2 protein. (PubMed id 8248255)1, 2, 9 Chan J.Y.... Kan Y.W. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    6. New gene functions in megakaryopoiesis and platelet formation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (Nature 2011)
    7. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PubMed id 19820697)1, 4 Soranzo N....Gieger C. (Nat. Genet. 2009)
    8. Itch regulates p45/NF-E2 in vivo by Lys63-linked ubiquitination. (PubMed id 18718448)1, 2 Lee T.-L.... Shen C.-K.J. (Biochem. Biophys. Res. Commun. 2008)
    9. 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. (Genome Res. 2004)
    10. 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. (Blood 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4778 HGNC: 7780 AceView: NFE2 Ensembl:ENSG00000123405 euGenes: HUgn4778
    ECgene: NFE2 H-InvDB: NFE2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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