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NFE2 (nuclear factor, erythroid 2)

Identity

Alias_namesnuclear factor (erythroid-derived 2), 45kD
nuclear factor (erythroid-derived 2), 45kDa
Alias_symbol (synonym)NF-E2
Other aliasp45
HGNC (Hugo) NFE2
LocusID (NCBI) 4778
Atlas_Id 41529
Location 12q13.13  [Link to chromosome band 12q13]
Location_base_pair Starts at 54292107 and ends at 54301037 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CBX5 (12q13.13) / NFE2 (12q13.13)NFE2 (12q13.13) / STARD7 (2q11.2)R3HDM2 (12q13.3) / NFE2 (12q13.13)
CBX5 12q13.13 / NFE2 12q13.13NFE2 12q13.13 / STARD7 2q11.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NFE2   7780
Cards
Entrez_Gene (NCBI)NFE2  4778  nuclear factor, erythroid 2
AliasesNF-E2; p45
GeneCards (Weizmann)NFE2
Ensembl hg19 (Hinxton)ENSG00000123405 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123405 [Gene_View]  chr12:54292107-54301037 [Contig_View]  NFE2 [Vega]
ICGC DataPortalENSG00000123405
TCGA cBioPortalNFE2
AceView (NCBI)NFE2
Genatlas (Paris)NFE2
WikiGenes4778
SOURCE (Princeton)NFE2
Genetics Home Reference (NIH)NFE2
Genomic and cartography
GoldenPath hg38 (UCSC)NFE2  -     chr12:54292107-54301037 -  12q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NFE2  -     12q13.13   [Description]    (hg19-Feb_2009)
EnsemblNFE2 - 12q13.13 [CytoView hg19]  NFE2 - 12q13.13 [CytoView hg38]
Mapping of homologs : NCBINFE2 [Mapview hg19]  NFE2 [Mapview hg38]
OMIM601490   
Gene and transcription
Genbank (Entrez)AK290555 AK290564 AK313207 BC005044 BE243330
RefSeq transcript (Entrez)NM_001136023 NM_001261461 NM_006163
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NFE2
Cluster EST : UnigeneHs.75643 [ NCBI ]
CGAP (NCI)Hs.75643
Alternative Splicing GalleryENSG00000123405
Gene ExpressionNFE2 [ NCBI-GEO ]   NFE2 [ EBI - ARRAY_EXPRESS ]   NFE2 [ SEEK ]   NFE2 [ MEM ]
Gene Expression Viewer (FireBrowse)NFE2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4778
GTEX Portal (Tissue expression)NFE2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16621   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16621  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16621
Splice isoforms : SwissVarQ16621
PhosPhoSitePlusQ16621
Domaine pattern : Prosite (Expaxy)BZIP (PS50217)    BZIP_BASIC (PS00036)   
Domains : Interpro (EBI)bZIP    bZIP_Maf    TF_DNA-bd   
Domain families : Pfam (Sanger)bZIP_Maf (PF03131)   
Domain families : Pfam (NCBI)pfam03131   
Domain families : Smart (EMBL)BRLZ (SM00338)  
Conserved Domain (NCBI)NFE2
DMDM Disease mutations4778
Blocks (Seattle)NFE2
PDB (SRS)1LVX    2KZ5   
PDB (PDBSum)1LVX    2KZ5   
PDB (IMB)1LVX    2KZ5   
PDB (RSDB)1LVX    2KZ5   
Structural Biology KnowledgeBase1LVX    2KZ5   
SCOP (Structural Classification of Proteins)1LVX    2KZ5   
CATH (Classification of proteins structures)1LVX    2KZ5   
SuperfamilyQ16621
Human Protein AtlasENSG00000123405
Peptide AtlasQ16621
HPRD09030
IPIIPI00003367   IPI01021752   
Protein Interaction databases
DIP (DOE-UCLA)Q16621
IntAct (EBI)Q16621
FunCoupENSG00000123405
BioGRIDNFE2
STRING (EMBL)NFE2
ZODIACNFE2
Ontologies - Pathways
QuickGOQ16621
Ontology : AmiGOtranscription regulatory region sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  cytoplasm  nucleosome disassembly  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  multicellular organism development  blood coagulation  hemostasis  blood circulation  PML body  sequence-specific DNA binding  positive regulation of transcription, DNA-templated  protein N-terminus binding  WW domain binding  WW domain binding  
Ontology : EGO-EBItranscription regulatory region sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  cytoplasm  nucleosome disassembly  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  multicellular organism development  blood coagulation  hemostasis  blood circulation  PML body  sequence-specific DNA binding  positive regulation of transcription, DNA-templated  protein N-terminus binding  WW domain binding  WW domain binding  
NDEx NetworkNFE2
Atlas of Cancer Signalling NetworkNFE2
Wikipedia pathwaysNFE2
Orthology - Evolution
OrthoDB4778
GeneTree (enSembl)ENSG00000123405
Phylogenetic Trees/Animal Genes : TreeFamNFE2
HOVERGENQ16621
HOGENOMQ16621
Homologs : HomoloGeneNFE2
Homology/Alignments : Family Browser (UCSC)NFE2
Gene fusions - Rearrangements
Fusion : MitelmanCBX5/NFE2 [12q13.13/12q13.13]  [t(12;12)(q13;q13)]  
Fusion : MitelmanNFE2/STARD7 [12q13.13/2q11.2]  [t(2;12)(q11;q13)]  
Fusion : MitelmanR3HDM2/NFE2 [12q13.3/12q13.13]  [del(12)(q13q13)]  
Fusion: TCGACBX5 12q13.13 NFE2 12q13.13 KIRC
Fusion: TCGANFE2 12q13.13 STARD7 2q11.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNFE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NFE2
dbVarNFE2
ClinVarNFE2
1000_GenomesNFE2 
Exome Variant ServerNFE2
ExAC (Exome Aggregation Consortium)NFE2 (select the gene name)
Genetic variants : HAPMAP4778
Genomic Variants (DGV)NFE2 [DGVbeta]
DECIPHERNFE2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNFE2 
Mutations
ICGC Data PortalNFE2 
TCGA Data PortalNFE2 
Broad Tumor PortalNFE2
OASIS PortalNFE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNFE2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNFE2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NFE2
DgiDB (Drug Gene Interaction Database)NFE2
DoCM (Curated mutations)NFE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NFE2 (select a term)
intoGenNFE2
Cancer3DNFE2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601490   
Orphanet
MedgenNFE2
Genetic Testing Registry NFE2
NextProtQ16621 [Medical]
TSGene4778
GENETestsNFE2
Target ValidationNFE2
Huge Navigator NFE2 [HugePedia]
snp3D : Map Gene to Disease4778
BioCentury BCIQNFE2
ClinGenNFE2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4778
Chemical/Pharm GKB GenePA31586
Clinical trialNFE2
Miscellaneous
canSAR (ICR)NFE2 (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNFE2
EVEXNFE2
GoPubMedNFE2
iHOPNFE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:01:33 CEST 2017

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