DISEASES

Disease-gene associations mined from literature

Literature associating NFE2 and essential thrombocythemia

NFE2 [ENSP00000439120]

Nuclear factor, erythroid-derived 2 45 kDa subunit; 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; Basic leucine zipper proteins

Synonyms:  NFE2,  NFE2p,  hNFE2,  A8K3E0,  F8W1N9 ...

Linkouts:  STRING  Pharos  UniProt