Aliases for NFE2 Gene
External Ids for NFE2 Gene
Previous GeneCards Identifiers for NFE2 Gene
GeneCards Summary for NFE2 Gene
NFE2 (Nuclear Factor, Erythroid 2) is a Protein Coding gene. Diseases associated with NFE2 include Essential Thrombocythemia and Spherocytosis, Type 4. Among its related pathways are Hematopoietic Stem Cell Differentiation and Factors involved in megakaryocyte development and platelet production. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription coactivator activity. An important paralog of this gene is NFE2L1.
UniProtKB/Swiss-Prot for NFE2 Gene
Component of the NF-E2 complex essential for regulating erythroid and megakaryocytic maturation and differentiation. Binds to the hypersensitive site 2 (HS2) of the beta-globin control region (LCR). This subunit (NFE2) recognizes the TCAT/C sequence of the AP-1-like core palindrome present in a number of erythroid and megakaryocytic gene promoters. Requires MAFK or other small MAF proteins for binding to the NF-E2 motif. May play a role in all aspects of hemoglobin production from globin and heme synthesis to procurement of iron.