ENSG00000116044


Homo sapiens

Features
Gene ID: ENSG00000116044
  
Biological name :NFE2L2
  
Synonyms : NFE2L2 / nuclear factor, erythroid 2 like 2 / Q16236
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q31.2
Gene start: 177227595
Gene end: 177392697
  
Corresponding Affymetrix probe sets: 1567013_at (Human Genome U133 Plus 2.0 Array)   1567015_at (Human Genome U133 Plus 2.0 Array)   201146_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000411575
Ensembl peptide - ENSP00000380253
Ensembl peptide - ENSP00000380252
Ensembl peptide - ENSP00000410015
Ensembl peptide - ENSP00000412191
Ensembl peptide - ENSP00000468089
Ensembl peptide - ENSP00000467401
Ensembl peptide - ENSP00000464920
Ensembl peptide - ENSP00000416308
Ensembl peptide - ENSP00000391291
Ensembl peptide - ENSP00000391590
Ensembl peptide - ENSP00000400073
NCBI entrez gene - 4780     See in Manteia.
OMIM - 600492
RefSeq - NM_006164
RefSeq - NM_001145412
RefSeq - NM_001145413
RefSeq - NM_001313900
RefSeq - NM_001313901
RefSeq - NM_001313902
RefSeq - NM_001313903
RefSeq - NM_001313904
RefSeq Peptide - NP_001138884
RefSeq Peptide - NP_006155
RefSeq Peptide - NP_001300833
RefSeq Peptide - NP_001300832
RefSeq Peptide - NP_001300831
RefSeq Peptide - NP_001300830
RefSeq Peptide - NP_001300829
RefSeq Peptide - NP_001138885
swissprot - Q16236
swissprot - C9J0Y1
swissprot - C9J1A8
swissprot - C9J3K4
swissprot - C9JBM0
swissprot - C9JFL6
swissprot - H7C498
swissprot - K7EIW5
swissprot - K7ER33
Ensembl - ENSG00000116044
  
Related genetic diseases (OMIM): 617744 - Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nfe2l2aENSDARG00000042824Danio rerio
 NFE2L2ENSGALG00000009240Gallus gallus
 Nfe2l2ENSMUSG00000015839Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NFE2L1 / Q14494 / nuclear factor, erythroid 2 like 1ENSG0000008264131
NFE2L3 / Q9Y4A8 / nuclear factor, erythroid 2 like 3ENSG0000005034423
NFE2 / Q16621 / nuclear factor, erythroid 2ENSG0000012340521
BACH2 / Q9BYV9 / BTB domain and CNC homolog 2ENSG0000011218217
BACH1 / O14867 / BTB domain and CNC homolog 1ENSG0000015627317


Protein motifs (from Interpro)
Interpro ID Name
 IPR004826  Basic leucine zipper domain, Maf-type
 IPR004827  Basic-leucine zipper domain
 IPR008917  Transcription factor, Skn-1-like, DNA-binding domain superfamily
 IPR029845  Nuclear factor erythroid 2-related factor 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0010499 proteasomal ubiquitin-independent protein catabolic process IDA
 biological_processGO:0010628 positive regulation of gene expression IGI
 biological_processGO:0010667 negative regulation of cardiac muscle cell apoptotic process IEA
 biological_processGO:0010976 positive regulation of neuron projection development IEA
 biological_processGO:0016567 protein ubiquitination IDA
 biological_processGO:0030194 positive regulation of blood coagulation IEA
 biological_processGO:0030968 endoplasmic reticulum unfolded protein response ISS
 biological_processGO:0034599 cellular response to oxidative stress IEA
 biological_processGO:0034976 response to endoplasmic reticulum stress IEA
 biological_processGO:0035690 cellular response to drug IEA
 biological_processGO:0036003 positive regulation of transcription from RNA polymerase II promoter in response to stress IMP
 biological_processGO:0036091 positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress IEA
 biological_processGO:0036499 PERK-mediated unfolded protein response TAS
 biological_processGO:0042149 cellular response to glucose starvation IEA
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IDA
 biological_processGO:0043536 positive regulation of blood vessel endothelial cell migration IEA
 biological_processGO:0045454 cell redox homeostasis IEA
 biological_processGO:0045766 positive regulation of angiogenesis IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0045995 regulation of embryonic development IEA
 biological_processGO:0046223 aflatoxin catabolic process IEA
 biological_processGO:0046326 positive regulation of glucose import IEA
 biological_processGO:0060548 negative regulation of cell death IEA
 biological_processGO:0061419 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia IMP
 biological_processGO:0070301 cellular response to hydrogen peroxide IMP
 biological_processGO:0071356 cellular response to tumor necrosis factor IMP
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0071498 cellular response to fluid shear stress IDA
 biological_processGO:0071499 cellular response to laminar fluid shear stress IMP
 biological_processGO:1902037 negative regulation of hematopoietic stem cell differentiation IEA
 biological_processGO:1902176 negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IMP
 biological_processGO:1903071 positive regulation of ER-associated ubiquitin-dependent protein catabolic process TAS
 biological_processGO:1903206 negative regulation of hydrogen peroxide-induced cell death IGI
 biological_processGO:1903788 positive regulation of glutathione biosynthetic process IEA
 biological_processGO:1904385 cellular response to angiotensin IEA
 biological_processGO:1904753 negative regulation of vascular associated smooth muscle cell migration IEA
 biological_processGO:2000121 regulation of removal of superoxide radicals IEA
 biological_processGO:2000352 negative regulation of endothelial cell apoptotic process IMP
 biological_processGO:2000379 positive regulation of reactive oxygen species metabolic process IEA
 cellular_componentGO:0000785 chromatin IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0032993 protein-DNA complex ISS
 molecular_functionGO:0000976 transcription regulatory region sequence-specific DNA binding TAS
 molecular_functionGO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001102 RNA polymerase II activating transcription factor binding IPI
 molecular_functionGO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding IEA
 molecular_functionGO:0001221 transcription cofactor binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0019904 protein domain specific binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding TAS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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