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 2. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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.