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

Gene ID: 4778, updated on 7-Dec-2018

Summary

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
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
Expression
Biased expression in bone marrow (RPKM 31.8), spleen (RPKM 3.5) and 3 other tissues See more
Orthologs

Genomic context

See NFE2 in Genome Data Viewer
Location:
12q13.13
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (54292107..54301037, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54685891..54718869, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene chromobox 5 Neighboring gene RNA, 7SL, cytoplasmic 390, pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein A1 Neighboring gene RNA, U6 small nuclear 950, pseudogene Neighboring gene coatomer protein complex subunit zeta 1 Neighboring gene microRNA 148b

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Hematopoietic Stem Cell Differentiation, organism-specific biosystem (from WikiPathways)
    Hematopoietic Stem Cell Differentiation, organism-specific biosystemGrowth factors and miRNA regulating differentiation of hematopoietic stem cells (HSC) to various blood-related cell types. Note that myeloblasts branch off separately from erythrocytes and megakaryoc...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
WW domain binding IDA
Inferred from Direct Assay
more info
PubMed 
WW domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding TAS
Traceable Author Statement
more info
PubMed 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
blood circulation TAS
Traceable Author Statement
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
hemostasis TAS
Traceable Author Statement
more info
PubMed 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
nucleosome disassembly TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
regulation of megakaryocyte differentiation TAS
Traceable Author Statement
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
PML body IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-DNA complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
p45 NF-E2

NCBI Reference Sequences (RefSeq)

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_001136023.3NP_001129495.1  transcription factor NF-E2 45 kDa subunit

    See identical proteins and their annotated locations for NP_001129495.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BC005044, BE243330
    Consensus CDS
    CCDS8876.1
    UniProtKB/Swiss-Prot
    Q16621
    UniProtKB/TrEMBL
    A8K3E0
    Related
    ENSP00000397185.2, ENST00000435572.6
    Conserved Domains (1) summary
    cd14720
    Location:263330
    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_001261461.1NP_001248390.1  transcription factor NF-E2 45 kDa subunit

    See identical proteins and their annotated locations for NP_001248390.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK313207, BE243330, GD141614
    Consensus CDS
    CCDS8876.1
    UniProtKB/Swiss-Prot
    Q16621
    UniProtKB/TrEMBL
    A8K3E0
    Related
    ENSP00000447558.1, ENST00000553070.5
    Conserved Domains (1) summary
    cd14720
    Location:263330
    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_006163.2NP_006154.1  transcription factor NF-E2 45 kDa subunit

    See identical proteins and their annotated locations for NP_006154.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BX406317, GD141614, S77763
    Consensus CDS
    CCDS8876.1
    UniProtKB/Swiss-Prot
    Q16621
    UniProtKB/TrEMBL
    A8K3E0
    Related
    ENSP00000312436.4, ENST00000312156.8
    Conserved Domains (1) summary
    cd14720
    Location:263330
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    54292107..54301037 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268906.4XP_005268963.1  transcription factor NF-E2 45 kDa subunit isoform X1

    See identical proteins and their annotated locations for XP_005268963.1

    UniProtKB/Swiss-Prot
    Q16621
    UniProtKB/TrEMBL
    A8K3E0
    Related
    ENSP00000446929.1, ENST00000553198.1
    Conserved Domains (1) summary
    cd14720
    Location:263330
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
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