Gene affected: NFE2 - Nuclear Factor, Erythroid 2,

Clinical significance
'A relatively infrequently mutated gene linked particularly to myeloproliferation; the significance to prognosis is not described at present.

Function of gene

Controls transcription of a large number of target genes with particular importance in hematopoietic cells together with transcription factors such as GATA1 and RUNX1, controlling megakaryocytic and/or erythroid cell function. Knockout mouse models have a defect in megakaryocyte formation with severely impaired platelet production.

NGS panel gene coverage

Full coverage


MPN (approx 2%)
Acquired insertion or deletion mutations in the NFE2 gene occur in MPN patients causing an activated truncated NFE2 protein.
AML (approx 3%)
Significance is unclear in AML


GeneWiki link:
Gene Wiki entry for NFE2

1. NFE2 in AML
2. NFE2 in MPD