Aliases for NFE2L2 Gene
External Ids for NFE2L2 Gene
Previous GeneCards Identifiers for NFE2L2 Gene
This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015]
GeneCards Summary for NFE2L2 Gene
NFE2L2 (Nuclear Factor, Erythroid 2 Like 2) is a Protein Coding gene. Diseases associated with NFE2L2 include Immunodeficiency, Developmental Delay, And Hypohomocysteinemia and Renal Cell Carcinoma, Papillary, 1. Among its related pathways are Gastric cancer and Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein domain specific binding. An important paralog of this gene is NFE2L1.
UniProtKB/Swiss-Prot Summary for NFE2L2 Gene
Transcription factor that plays a key role in the response to oxidative stress: binds to antioxidant response (ARE) elements present in the promoter region of many cytoprotective genes, such as phase 2 detoxifying enzymes, and promotes their expression, thereby neutralizing reactive electrophiles (PubMed:11035812, PubMed:19489739, PubMed:29018201, PubMed:31398338). In normal conditions, ubiquitinated and degraded in the cytoplasm by the BCR(KEAP1) complex (PubMed:11035812, PubMed:15601839, PubMed:29018201). In response to oxidative stress, electrophile metabolites inhibit activity of the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2, heterodimerization with one of the small Maf proteins and binding to ARE elements of cytoprotective target genes (PubMed:19489739, PubMed:29590092). The NFE2L2/NRF2 pathway is also activated in response to selective autophagy: autophagy promotes interaction between KEAP1 and SQSTM1/p62 and subsequent inactivation of the BCR(KEAP1) complex, leading to NFE2L2/NRF2 nuclear accumulation and expression of cytoprotective genes (PubMed:20452972). May also be involved in the transcriptional activation of genes of the beta-globin cluster by mediating enhancer activity of hypersensitive site 2 of the beta-globin locus control region (PubMed:7937919).