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

NFE2 Gene

protein-coding   GIFtS: 63
GCID: GC12M054685

Nuclear Factor, Erythroid 2

(Previous names: nuclear factor (erythroid-derived 2), 45kD, nuclear factor...)
  See related diseases
at  

(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

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

GeneCards Summary for NFE2 Gene: 
NFE2 (nuclear factor, erythroid 2) is a protein-coding gene. Diseases associated with NFE2 include glanders, and thrombocytosis, and among its related super-pathways are Platelet activation, signaling and aggregation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NFE2 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNFE2 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

(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: 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)
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

Explore proteomics data for NFE2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on serine residues (By similarity). In undifferentiated erythrocytes, phosphorylated by MAPK8 which
    then leads to ubiquitination and protein degradation (By similarity)
  • UniProtKB: Sumoylated. Sumoylation is required for translocation to nuclear bodies PODs, anchoring to the gene loci, and
    transactivation of the beta-globin gene
  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16621

  • NFE2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NFE2 Protein Expression
    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 for NFE2: 
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    Novus Biologicals NFE2 Proteins
    Novus Biologicals NFE2 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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



    NFE2 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for NFE2 

    Assay Products for NFE2: 
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    Cloud-Clone Corp. ELISAs for NFE2 
    Cloud-Clone Corp. CLIAs for NFE2


    (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 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


    NFE2 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: 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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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:0043565sequence-specific DNA binding TAS9305852
    GO:0047485protein N-terminus binding IPI11863372
         
    NFE2 for ontologies           About GeneDecksing


    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  hematopoietic system  immune system  integument 
     mortality/aging  skeleton  tumorigenesis 

    NFE2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nfe2tm1Sho for NFE2

       inGenious Targeting Laboratory - Custom generated mouse model solutions 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 

    10/275 SABiosciences Target genes for NFE2 (see all 275):
    ACPP ACYP2 AKNA ALG13 AMHR2 AMZ2 ANO1 APCS ASIP ASXL1

    miRNA
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    2 QIAGEN miScript miRNA 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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    (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 NFE2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Platelet activation, signaling and aggregation
    Hemostasis0.43
    2Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production

    Pathways by source                                                                                                                                                                 See SuperPaths
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

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

    NFE2 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

    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 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)

    Search CenterWatch for drugs/clinical trials and news about NFE2

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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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    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 

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

    BI824392 S77763 CR620089 BC005044 AL553561 CR610867 L24122 CR621458 
    BX406317 BX445340 BI254284 NM_006163 CR590660 BI821761 AA346583 BQ923025 
    H72193 H48815 BM728974 CR450284 BF182980 R01975 BX643700 H48624 

    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™, 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)      NFE2 embryonic expression: see
    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 
     5/25 selected tissues (see all 25) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 11 entries
             Common Myeloid Progenitor Cells Hematopoietic Bone Marrow
             Fetal Liver CD36+ Cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Pre-Sertoli Cells Testis Cord
             seminal vesicle ; glandular cells   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Prechondrocytic Mesenchymal Cells Zeugopod
             Bone Marrow
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...
             pancreas ; exocrine glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             colon ; peripheral nerve/ganglion   

    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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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NFE2 gene from 4/9 species (see all 9)    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
    Uncharacterized protein
    53(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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    NFE2 for paralogs           About GeneDecksing



    (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

    10/195 SNPs in NFE2 are shown (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

    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601490    OMIM disorders: --

    9 diseases for NFE2:    About MalaCards
    glanders    thrombocytosis    lyme disease    thrombocytopenia
    polycythemia    nasopharyngitis    anemia    leukemia
    hepatitis

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

    NFE2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for NFE2 gene, integrated from 9 sources (see all 180):
    (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. New gene functions in megakaryopoiesis and platelet fo rmation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (2011)
    7. A genome-wide meta-analysis identifies 22 loci associ ated with eight hematological parameters in the HaemGen consortium. (PubMed id 19820697)1, 4 Soranzo N....Gieger C. (2009)
    8. Itch regulates p45/NF-E2 in vivo by Lys63-linked ubiquitination. (PubMed id 18718448)1, 2 Lee T.L....Shen C.K. (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. (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. (1997)

    (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: 4778 HGNC: 7780 AceView: NFE2 Ensembl:ENSG00000123405 euGenes: HUgn4778
    ECgene: NFE2 H-InvDB: NFE2

    (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 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.)
    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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