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Aliases for NFE2 Gene

Aliases for NFE2 Gene

  • Nuclear Factor, Erythroid 2 2 3
  • Nuclear Factor, Erythroid-Derived 2 45 KDa Subunit 3 4
  • Nuclear Factor (Erythroid-Derived 2), 45kDa 2 3
  • Nuclear Factor (Erythroid-Derived 2), 45kD 2 3
  • Leucine Zipper Protein NF-E2 3 4
  • P45 NF-E2 3 4
  • Transcription Factor NF-E2 45 KDa Subunit 3
  • NF-E2 3
  • P45 3

External Ids for NFE2 Gene

Previous GeneCards Identifiers for NFE2 Gene

  • GC12M054813
  • GC12M054402
  • GC12M052972
  • GC12M054685
  • GC12M051725

Summaries for NFE2 Gene

GeneCards Summary for NFE2 Gene

NFE2 (Nuclear Factor, Erythroid 2) is a Protein Coding gene. Diseases associated with NFE2 include essential thrombocythemia. Among its related pathways are Hemostasis and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription coactivator activity. An important paralog of this gene is NFE2L2.

UniProtKB/Swiss-Prot for NFE2 Gene

  • 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

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFE2 Gene

Genomics for NFE2 Gene

Regulatory Elements for NFE2 Gene

Transcription factor binding sites by QIAGEN in the NFE2 gene promoter:

Genomic Location for NFE2 Gene

Start:
54,292,107 bp from pter
End:
54,325,085 bp from pter
Size:
32,979 bases
Orientation:
Minus strand

Genomic View for NFE2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NFE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFE2 Gene

Proteins for NFE2 Gene

  • Protein details for NFE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16621-NFE2_HUMAN
    Recommended name:
    Transcription factor NF-E2 45 kDa subunit
    Protein Accession:
    Q16621
    Secondary Accessions:
    • Q07720
    • Q6ICV9

    Protein attributes for NFE2 Gene

    Size:
    373 amino acids
    Molecular mass:
    41473 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for NFE2 Gene

neXtProt entry for NFE2 Gene

Proteomics data for NFE2 Gene at MOPED

Post-translational modifications for NFE2 Gene

  • Phosphorylated on serine residues. In undifferentiated erythrocytes, phosphorylated by MAPK8 which then leads to ubiquitination and protein degradation.
  • Sumoylated. Sumoylation is required for translocation to nuclear bodies PODs, anchoring to the gene loci, and transactivation of the beta-globin gene.
  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NFE2 Gene

Antibody Products

No data available for DME Specific Peptides for NFE2 Gene

Domains for NFE2 Gene

Gene Families for NFE2 Gene

HGNC:
  • bZIP :basic leucine zipper proteins

Protein Domains for NFE2 Gene

Suggested Antigen Peptide Sequences for NFE2 Gene

Graphical View of Domain Structure for InterPro Entry

Q16621

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).
  • Contains 1 bZIP (basic-leucine zipper) domain.
Family:
  • Belongs to the bZIP family. CNC subfamily.
genes like me logo Genes that share domains with NFE2: view

Function for NFE2 Gene

Molecular function for NFE2 Gene

GENATLAS Biochemistry:
nuclear factor,erythroid derived NF-E2 Capncollar (CNC) family of transcription factor,dimerizing with TFCP2 to form the stage selector protein complex,binding to LCR of globin loci
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for NFE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0003713 transcription coactivator activity TAS 8355703
GO:0005515 protein binding IPI 25416956
GO:0043565 sequence-specific DNA binding TAS 9305852
genes like me logo Genes that share ontologies with NFE2: view
genes like me logo Genes that share phenotypes with NFE2: view

Animal Models for NFE2 Gene

MGI Knock Outs for NFE2:

Animal Model Products

Transcription Factor Targeting for NFE2 Gene

Selected GeneGlobe predicted Target genes for NFE2
Targeting motifs for NFE2 Gene
HOMER Transcription Factor Regulatory Elements motif NFE2
  • Consensus sequence: GATGACTCAGCA Submotif: canonical Cell Type: K562 GeoId: GSE31477

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NFE2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and miRNA for NFE2 Gene

Localization for NFE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFE2 Gene

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
Jensen Localization Image for NFE2 Gene COMPARTMENTS Subcellular localization image for NFE2 gene
Compartment Confidence
nucleus 5
cytoskeleton 4

Gene Ontology (GO) - Cellular Components for NFE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 7774011
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0015629 actin cytoskeleton IDA --
GO:0016605 PML body IEA --
genes like me logo Genes that share ontologies with NFE2: view

Pathways for NFE2 Gene

genes like me logo Genes that share pathways with NFE2: view

Pathways by source for NFE2 Gene

Gene Ontology (GO) - Biological Process for NFE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006337 nucleosome disassembly TAS 9305852
GO:0006351 transcription, DNA-templated TAS 9305852
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0007267 cell-cell signaling IEA --
genes like me logo Genes that share ontologies with NFE2: view

Compounds for NFE2 Gene

(2) HMDB Compounds for NFE2 Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8
Iron
  • Armco iron
7439-89-6

(12) Novoseek inferred chemical compound relationships for NFE2 Gene

Compound -log(P) Hits PubMed IDs
porphobilinogen 75.3 5
aclacinomycin 66.4 4
butyrate 37 7
thromboxane 32.2 3
3beta-hydroxysteroid 28.3 2
genes like me logo Genes that share compounds with NFE2: view

Transcripts for NFE2 Gene

Unigene Clusters for NFE2 Gene

Nuclear factor (erythroid-derived 2), 45kDa:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NFE2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFE2 Gene

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

Relevant External Links for NFE2 Gene

GeneLoc Exon Structure for
NFE2
ECgene alternative splicing isoforms for
NFE2

Expression for NFE2 Gene

mRNA expression in normal human tissues for NFE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NFE2 Gene

This gene is overexpressed in Whole Blood (48.7).

Protein differential expression in normal tissues for NFE2 Gene

This gene is overexpressed in Cervix (65.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NFE2 Gene

SOURCE GeneReport for Unigene cluster for NFE2 Gene Hs.75643

mRNA Expression by UniProt/SwissProt for NFE2 Gene

Q16621-NFE2_HUMAN
Tissue specificity: Expressed in hematopoietic cells and also in colon and testis
genes like me logo Genes that share expressions with NFE2: view

Expression partners for NFE2 Gene

In Situ Assay Products

Orthologs for NFE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NFE2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NFE2 35
  • 89.28 (n)
  • 91.15 (a)
NFE2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NFE2 35
  • 88.38 (n)
  • 92.23 (a)
NFE2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nfe2 35
  • 84.99 (n)
  • 88.74 (a)
Nfe2 16
Nfe2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NFE2 35
  • 99.46 (n)
  • 99.73 (a)
NFE2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfe2 35
  • 85.7 (n)
  • 90.08 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 37 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia NFE2 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfe2 35
  • 50.71 (n)
  • 45.93 (a)
zebrafish
(Danio rerio)
Actinopterygii nfe2 36
  • 32 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cnc 37
  • 49 (a)
cnc 36
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 11 (a)
OneToMany
Species with no ortholog for NFE2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NFE2 Gene

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

Paralogs for NFE2 Gene

Paralogs for NFE2 Gene

Selected SIMAP similar genes for NFE2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with NFE2: view

Variants for NFE2 Gene

Sequence variations from dbSNP and Humsavar for NFE2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1049685 -- 54,292,217(-) TCAAA(A/C/G)AGGCT utr-variant-3-prime
rs1049687 -- 54,292,150(-) CCTCC(A/C)CCTTG utr-variant-3-prime
rs1049688 -- 54,292,143(-) CTTGT(C/T)TAAGC utr-variant-3-prime
rs4348947 -- 54,292,483(+) CATCC(C/G)GAAGG missense, reference
rs4758957 -- 54,321,961(+) agttt(C/T)gctct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NFE2 Gene

Variant ID Type Subtype PubMed ID
nsv832420 CNV Loss 17160897

Relevant External Links for NFE2 Gene

HapMap Linkage Disequilibrium report
NFE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFE2 Gene

Disorders for NFE2 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for NFE2 Gene in MalaCards »

(1) Diseases for NFE2 Gene including...

(2) University of Copenhagen DISEASES for NFE2 Gene

(7) Novoseek inferred disease relationships for NFE2 Gene

Disease -log(P) Hits PubMed IDs
erythroleukemia 77.6 12
polycythemia 39.3 1
thrombocytosis 19.2 1
thrombocytopenia 14.4 2
leukemia 10.7 1

Relevant External Links for NFE2

Genetic Association Database (GAD)
NFE2
genes like me logo Genes that share disorders with NFE2: view

No data available for OMIM , UniProtKB/Swiss-Prot and Genatlas for NFE2 Gene

Publications for NFE2 Gene

  1. Purification of the human NF-E2 complex: cDNA cloning of the hematopoietic cell-specific subunit and evidence for an associated partner. (PMID: 8355703) Ney P.A. … Neinhuis A.W. (Mol. Cell. Biol. 1993) 2 3 4 23
  2. Isolation of a differentially regulated splicing isoform of human NF- E2. (PMID: 7724591) Pischedda C. … Moi P. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 23
  3. Stimulation of NF-E2 DNA binding by CREB-binding protein (CBP)- mediated acetylation. (PMID: 11154691) Hung H.-L. … Blobel G.A. (J. Biol. Chem. 2001) 3 4 23
  4. Isolation of cDNA encoding the human NF-E2 protein. (PMID: 8248255) Chan J.Y. … Kan Y.W. (Proc. Natl. Acad. Sci. U.S.A. 1993) 3 4 23
  5. Sumoylation of p45/NF-E2: nuclear positioning and transcriptional activation of the mammalian beta-like globin gene locus. (PMID: 16287851) Shyu Y.-C. … Shen C.-K.J. (Mol. Cell. Biol. 2005) 3 4 23

Products for NFE2 Gene

Sources for NFE2 Gene

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