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    NFE2 nuclear factor, erythroid 2 [ Homo sapiens (human) ]

    Gene ID: 4778, updated on 3-Apr-2024

    Summary

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    Official Symbol
    NFE2provided by HGNC
    Official Full Name
    nuclear factor, erythroid 2provided by HGNC
    Primary source
    HGNC:HGNC:7780
    See related
    Ensembl:ENSG00000123405 MIM:601490; AllianceGenome:HGNC:7780
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p45; NF-E2
    Summary
    Enables several functions, including WW domain binding activity; identical protein binding activity; and protein N-terminus binding activity. Contributes to cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including labyrinthine layer blood vessel development; negative regulation of bone mineralization; and negative regulation of syncytium formation by plasma membrane fusion. Part of protein-DNA complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in bone marrow (RPKM 31.8), spleen (RPKM 3.5) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q13.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (54292111..54301015, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (54258688..54267591, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54685895..54694799, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene chromobox 5 Neighboring gene S-phase cancer associated transcript 2 Neighboring gene CRISPRi-FlowFISH-validated NFE2 regulatory element 2 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 Neighboring gene CRISPRi-FlowFISH-validated HNRNPA1 regulatory element Neighboring gene CRISPRi-FlowFISH-validated COPZ1 and HNRNPA1 regulatory element Neighboring gene CRISPRi-FlowFISH-validated HNRNPA1 and NFE2 regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated COPZ1, HNRNPA1 and NFE2 regulatory element Neighboring gene CRISPRi-FlowFISH-validated HNRNPA1 and NFE2 regulatory element 2 Neighboring gene RNA, U6 small nuclear 950, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:54722975-54723665 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:54723666-54724355 Neighboring gene COPI coat complex subunit zeta 1 Neighboring gene microRNA 148b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. In a multi-institutional cohort of myeloid sarcomas, NFE2 mutation prevalence is lower than previously reported. Anekpuritanang T, et al. Blood Adv, 2021 Dec 14. PMID 34559205, Free PMC Article
    2. Impact of NFE2 mutations on AML transformation and overall survival in patients with myeloproliferative neoplasms. Marcault C, et al. Blood, 2021 Nov 25. PMID 33945619
    3. Characteristics and clinical correlates of NFE2 mutations in chronic Myeloproliferative neoplasms. Guglielmelli P, et al. Am J Hematol, 2020 Jan. PMID 31659782
    4. A novel role for nuclear factor-erythroid 2 in erythroid maturation by modulation of mitochondrial autophagy. Gothwal M, et al. Haematologica, 2016 Sep. PMID 27479815, Free PMC Article
    5. [Differential diagnosis of myeloproliferative neoplasms. Quantitative NF-E2 immunohistochemistry for differentiating between essential thrombocythemia and primary myelofibrosis]. Aumann K, et al. Pathologe, 2013 Nov. PMID 24196613

    See all (81) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In a multi-institutional cohort of myeloid sarcomas, NFE2 mutation prevalence is lower than previously reported.
      Title: In a multi-institutional cohort of myeloid sarcomas, NFE2 mutation prevalence is lower than previously reported.
    2. Impact of NFE2 mutations on AML transformation and overall survival in patients with myeloproliferative neoplasms.
      Title: Impact of NFE2 mutations on AML transformation and overall survival in patients with myeloproliferative neoplasms.
    3. Nuclear factor erythroid 2 (NF-E2) p45-related factor 2 interferes with homeodomain-interacting protein kinase 2/p53 activity to impair solid tumors chemosensitivity.
      Title: Nuclear factor erythroid 2 (NF-E2) p45-related factor 2 interferes with homeodomain-interacting protein kinase 2/p53 activity to impair solid tumors chemosensitivity.
    4. The transcription factor NFE2 enhances expression of the hematopoietic master regulators SCL/TAL1 and GATA2.
      Title: The transcription factor NFE2 enhances expression of the hematopoietic master regulators SCL/TAL1 and GATA2.
    5. data confirm that NFE2 mutations are rare, heterogenous mutations with a prevalence of frameshift and deletion, and are slightly enriched in PV.
      Title: Characteristics and clinical correlates of NFE2 mutations in chronic Myeloproliferative neoplasms.
    6. The NFE2-miR-423-5p-TFF1 axis is a novel molecular mechanism and provides a new direction for the study and treatment of diabetic retinopathy.
      Title: NFE2/miR-423-5p/TFF1 axis regulates high glucose-induced apoptosis in retinal pigment epithelial cells.
    7. mutations in NFE2 predispose to the acquisition of secondary changes promoting the development of myelosarcoma and/or AML
      Title: Altered NFE2 activity predisposes to leukemic transformation and myelosarcoma with AML-specific aberrations.
    8. We detected that cigarette smoke significantly increased p45 NFE2 levels in DJ-1 KO mice compared to wild-type mice. Our results indicate that p45 NFE2 expression is induced by exposure to cigarette smoke, has a cytoprotective activity against cell injury, and its downregulation in human primary ATII cells may contribute to emphysema pathogenesis
      Title: The cytoprotective role of DJ-1 and p45 NFE2 against human primary alveolar type II cell injury and emphysema.
    9. NF-E2 silencing in hematopoietic stem and progenitor cells (HSPCs) did not affect their myeloid and B cell differentiation in vivo, it almost abrogated T cell production in primary hosts, as confirmed by in vitro studies. This effect is at least partly due to Notch1 downregulation in NF-E2-silenced HSPCs.
      Title: Nuclear Factor Erythroid 2 Regulates Human HSC Self-Renewal and T Cell Differentiation by Preventing NOTCH1 Activation.
    10. results suggest that p45 NF-E2 negatively regulates differentiation and apoptosis activation of human syncytiotrophoblast by modulating GCM1 acetylation and sumoylation.
      Title: p45 NF-E2 regulates syncytiotrophoblast differentiation by post-translational GCM1 modifications in human intrauterine growth restriction.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    EBI GWAS Catalog
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables WW domain binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables WW domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in hemostasis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in integrated stress response signaling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in nucleosome disassembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in PML body IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of RNA polymerase II transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of protein-DNA complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transcription factor NF-E2 45 kDa subunit
    Names
    leucine zipper protein NF-E2
    nuclear factor (erythroid-derived 2), 45kD
    nuclear factor (erythroid-derived 2), 45kDa
    nuclear factor, erythroid-derived 2 45 kDa subunit

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001136023.3 → NP_001129495.1  transcription factor NF-E2 45 kDa subunit isoform 1

      See identical proteins and their annotated locations for NP_001129495.1

      Status: VALIDATED

      Source sequence(s)
      BC005044, BE243330
      Consensus CDS
      CCDS8876.1
      UniProtKB/Swiss-Prot
      Q07720, Q16621, Q6ICV9
      UniProtKB/TrEMBL
      A8K3E0, F8W1N9
      Related
      ENSP00000397185.2, ENST00000435572.7
      Conserved Domains (1) summary
      cd14720
      Location:263 → 330
      bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain

    2. NM_001261461.2 → NP_001248390.1  transcription factor NF-E2 45 kDa subunit isoform 1

      See identical proteins and their annotated locations for NP_001248390.1

      Status: VALIDATED

      Source sequence(s)
      AK313207, GD141614
      Consensus CDS
      CCDS8876.1
      UniProtKB/Swiss-Prot
      Q07720, Q16621, Q6ICV9
      UniProtKB/TrEMBL
      A8K3E0, F8W1N9
      Related
      ENSP00000447558.1, ENST00000553070.5
      Conserved Domains (1) summary
      cd14720
      Location:263 → 330
      bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain

    3. NM_001400365.1 → NP_001387294.1  transcription factor NF-E2 45 kDa subunit isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC078778
      Consensus CDS
      CCDS8876.1
      UniProtKB/Swiss-Prot
      Q07720, Q16621, Q6ICV9
      UniProtKB/TrEMBL
      A8K3E0
      Related
      ENSP00000446929.1, ENST00000553198.1

    4. NM_001400372.1 → NP_001387301.1  transcription factor NF-E2 45 kDa subunit isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC078778

    5. NM_001400373.1 → NP_001387302.1  transcription factor NF-E2 45 kDa subunit isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC078778

    6. NM_006163.3 → NP_006154.1  transcription factor NF-E2 45 kDa subunit isoform 1

      See identical proteins and their annotated locations for NP_006154.1

      Status: VALIDATED

      Source sequence(s)
      S77763
      Consensus CDS
      CCDS8876.1
      UniProtKB/Swiss-Prot
      Q07720, Q16621, Q6ICV9
      UniProtKB/TrEMBL
      A8K3E0, F8W1N9
      Related
      ENSP00000312436.4, ENST00000312156.8
      Conserved Domains (1) summary
      cd14720
      Location:263 → 330
      bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      54292111..54301015 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      54258688..54267591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16621.1 GenPept UniProtKB/Swiss-Prot:Q16621

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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