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Aliases for NFE4 Gene

Aliases for NFE4 Gene

  • Nuclear Factor, Erythroid 4 2 3 5
  • Fetal Globin Activator NF-E4 3
  • Gamma-Globin Gene Activator 3
  • Transcription Factor NF-E4 3
  • NF-E4 3

External Ids for NFE4 Gene

Previous GeneCards Identifiers for NFE4 Gene

  • GC07P102614

Summaries for NFE4 Gene

Entrez Gene Summary for NFE4 Gene

  • The erythroid-specific protein encoded by this gene, and the ubiquitous transcription factor CP2, form the stage selector protein (SSP) complex, which is involved in preferential expression of the gamma-globin genes in fetal erythroid cells. Alternate use of an in-frame upstream non-AUG (CUG) translation initiation codon, and a downstream AUG codon, results in two isoforms. While the long isoform (22 kDa) acts as an activator, the short isoform (14 kDa) has been shown to repress gamma-globin gene expression. This gene is located in an intron of the FBXL13 gene on the opposite strand. [provided by RefSeq, Jul 2008]

GeneCards Summary for NFE4 Gene

NFE4 (Nuclear Factor, Erythroid 4) is a Protein Coding gene.

UniProtKB/Swiss-Prot for NFE4 Gene

  • Functions as part of the SSP (stage selector protein) complex, a complex that contributes to the preferential expression of the gamma-gene in fetal erythroid cells by facilitating the interaction of the gamma-globin genes with enhancer elements contained in the locus control region (LCR). The complex binds to the stage selector element (SSE) in the proximal gamma-globin promoter. In contrast, isoform 2 acts as a repressor of gamma-globin gene expression by preventing NFE2 and RNA polymerase II recruitment to the promoter.

Additional gene information for NFE4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFE4 Gene

Genomics for NFE4 Gene

GeneHancer (GH) Regulatory Elements for NFE4 Gene

Promoters and enhancers for NFE4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I102972 Enhancer 1.4 Ensembl ENCODE dbSUPER 550.8 +0.2 191 3.2 HDGF PKNOX1 SMAD1 ARNT YBX1 ZBTB7B POLR2B E2F8 REST ZNF592 NFE4 CRYZP1 ENSG00000213385 SPDYE2 DNAJC2 PMPCB FBXL13 ARMC10 RPL23AP95 GC07P103004
GH07I102987 Enhancer 1.5 Ensembl ENCODE dbSUPER 0.4 +17.9 17928 6.9 HDGF PKNOX1 FOXA2 ARNT SIN3A FEZF1 ZNF2 POLR2B ZNF766 CBX5 PRKRIP1 ENSG00000213385 CRYZP1 ENSG00000239486 DNAJC2 NAPEPLD PMPCB ALKBH4 DPY19L2P2 LRRC17
GH07I102970 Enhancer 0.6 dbSUPER 0.8 -2.1 -2059 0.8 BCOR ZNF133 NCOA2 ZNF830 ZNF316 NFIC EGR1 ADNP KDM1A ZNF24 LRWD1 NFE4 LRRC17 FBXL13
GH07I102978 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.4 +5.1 5148 1 ATF1 ZBTB40 CHAMP1 POLR2B RCOR1 SMAD5 ZBTB2 CEBPB ELF1 ZNF592 DPY19L2P2 NFE4 GC07P103004 FBXL13
GH07I102912 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 0.2 -58.1 -58129 6 ELF3 CTCF PKNOX1 JUN RAD21 ZNF316 ZNF366 PATZ1 ZNF547 FOSL2 LRRC17 RNU6-1136P FBXL13 DPY19L2P2 ARMC10 RASA4 RPL23AP95 NFE4 FAM185A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NFE4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NFE4 Gene

Genomic Locations for NFE4 Gene
chr7:102,973,437-102,988,856
(GRCh38/hg38)
Size:
15,420 bases
Orientation:
Plus strand
chr7:102,613,884-102,629,303
(GRCh37/hg19)

Genomic View for NFE4 Gene

Genes around NFE4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFE4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFE4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFE4 Gene

Proteins for NFE4 Gene

  • Protein details for NFE4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UQ8-NFE4_HUMAN
    Recommended name:
    Transcription factor NF-E4
    Protein Accession:
    Q86UQ8

    Protein attributes for NFE4 Gene

    Size:
    179 amino acids
    Molecular mass:
    19019 Da
    Quaternary structure:
    • Component of the SSP (stage selector protein) complex, which appears to be a heteromer of TFCP2 and 2 copies of NFE4. Interacts with HDAC1 and PCAF. Isoform 2 interacts with TFCP2.
    SequenceCaution:
    • Sequence=AAP13531.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305};

    Alternative splice isoforms for NFE4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFE4 Gene

Post-translational modifications for NFE4 Gene

  • Acetylation at Lys-43 prolongs the protein half-life by preventing ubiquitin-mediated degradation and reduces the interaction between NF-E4 and HDAC1, potentially maximizing the activating ability of the factor at the gamma-promoter.
  • Ubiquitinated; leading to its degradation by the proteasome. Acetylation at Lys-43 prevents ubiquitination.

Other Protein References for NFE4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NFE4 Gene

Domains & Families for NFE4 Gene

Gene Families for NFE4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NFE4 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for NFE4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NFE4: view

No data available for UniProtKB/Swiss-Prot for NFE4 Gene

Function for NFE4 Gene

Molecular function for NFE4 Gene

UniProtKB/Swiss-Prot Function:
Functions as part of the SSP (stage selector protein) complex, a complex that contributes to the preferential expression of the gamma-gene in fetal erythroid cells by facilitating the interaction of the gamma-globin genes with enhancer elements contained in the locus control region (LCR). The complex binds to the stage selector element (SSE) in the proximal gamma-globin promoter. In contrast, isoform 2 acts as a repressor of gamma-globin gene expression by preventing NFE2 and RNA polymerase II recruitment to the promoter.

Phenotypes From GWAS Catalog for NFE4 Gene

Gene Ontology (GO) - Molecular Function for NFE4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000987 proximal promoter sequence-specific DNA binding IMP 15273251
GO:0003700 DNA binding transcription factor activity IMP 15273251
GO:0005515 protein binding IPI 11003662
GO:0042803 protein homodimerization activity IDA 11003662
genes like me logo Genes that share ontologies with NFE4: view

Phenotypes for NFE4 Gene

GenomeRNAi human phenotypes for NFE4:
genes like me logo Genes that share phenotypes with NFE4: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NFE4 Gene

Localization for NFE4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFE4 Gene

Gene Ontology (GO) - Cellular Components for NFE4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11003662
GO:0043234 protein complex IMP 15273251
genes like me logo Genes that share ontologies with NFE4: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for NFE4 Gene

Pathways & Interactions for NFE4 Gene

No Data Available

Interacting Proteins for NFE4 Gene

Gene Ontology (GO) - Biological Process for NFE4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IDA 15084587
GO:0006357 regulation of transcription by RNA polymerase II IMP 16263792
GO:0006461 protein complex assembly IDA 11003662
GO:0045944 positive regulation of transcription by RNA polymerase II IMP 15273251
genes like me logo Genes that share ontologies with NFE4: view

No data available for Pathways by source and SIGNOR curated interactions for NFE4 Gene

Drugs & Compounds for NFE4 Gene

No Compound Related Data Available

Transcripts for NFE4 Gene

mRNA/cDNA for NFE4 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NFE4 Gene

Transcription factor NF-E4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFE4 Gene

No ASD Table

Relevant External Links for NFE4 Gene

GeneLoc Exon Structure for
NFE4
ECgene alternative splicing isoforms for
NFE4

Expression for NFE4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NFE4 Gene

mRNA differential expression in normal tissues according to GTEx for NFE4 Gene

This gene is overexpressed in Whole Blood (x36.2) and Adrenal Gland (x6.7).

Protein differential expression in normal tissues from HIPED for NFE4 Gene

This gene is overexpressed in CD8 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NFE4 Gene



Protein tissue co-expression partners for NFE4 Gene

NURSA nuclear receptor signaling pathways regulating expression of NFE4 Gene:

NFE4

SOURCE GeneReport for Unigene cluster for NFE4 Gene:

Hs.621233

mRNA Expression by UniProt/SwissProt for NFE4 Gene:

Q86UQ8-NFE4_HUMAN
Tissue specificity: Specifically expressed in fetal liver, cord blood and bone marrow. Also expressed in the K562 and HEL cell lines, which constitutively express the fetal globin genes.
genes like me logo Genes that share expression patterns with NFE4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NFE4 Gene

Orthologs for NFE4 Gene

Evolution for NFE4 Gene

ENSEMBL:
Gene Tree for NFE4 (if available)
TreeFam:
Gene Tree for NFE4 (if available)

No data available for Orthologs for NFE4 Gene

Paralogs for NFE4 Gene

No data available for Paralogs for NFE4 Gene

Variants for NFE4 Gene

Sequence variations from dbSNP and Humsavar for NFE4 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000243842 -- 102,976,988(+) C/T intron_variant
rs1000294646 -- 102,976,670(+) G/A intron_variant
rs1000630405 -- 102,975,368(+) C/G intron_variant
rs1001697110 -- 102,978,018(+) G/A intron_variant
rs1001719167 -- 102,975,259(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NFE4 Gene

Variant ID Type Subtype PubMed ID
nsv608060 CNV loss 21841781
nsv5881 CNV deletion 18451855
nsv464667 CNV loss 19166990
esv2752138 CNV loss 17911159
esv2734949 CNV deletion 23290073
esv27075 CNV loss 19812545
dgv6538n100 CNV gain 25217958

Additional Variant Information for NFE4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFE4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NFE4 Gene

Disorders for NFE4 Gene

Additional Disease Information for NFE4

No disorders were found for NFE4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NFE4 Gene

Publications for NFE4 Gene

  1. Induction of human fetal globin gene expression by a novel erythroid factor, NF-E4. (PMID: 11003662) Zhou W … Jane SM (Molecular and cellular biology 2000) 2 3 4 22 58
  2. Repression of human gamma-globin gene expression by a short isoform of the NF-E4 protein is associated with loss of NF-E2 and RNA polymerase II recruitment to the promoter. (PMID: 16263792) Zhao Q … Jane SM (Blood 2006) 3 4 22 58
  3. Site-specific acetylation of the fetal globin activator NF-E4 prevents its ubiquitination and regulates its interaction with the histone deacetylase, HDAC1. (PMID: 15273251) Zhao Q … Jane SM (The Journal of biological chemistry 2004) 3 4 22 58
  4. The role of p22 NF-E4 in human globin gene switching. (PMID: 15084587) Zhou W … Jane SM (The Journal of biological chemistry 2004) 3 4 58
  5. The role of WDR5 in silencing human fetal globin gene expression. (PMID: 22689669) Xu Z … Zhao Q (Haematologica 2012) 3 58

Products for NFE4 Gene

Sources for NFE4 Gene

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