ELF4 Gene

ELF4 (E74 Like ETS Transcription Factor 4) is a protein coding gene located on chromosome Xq26.1. Two transcript variants encoding the same protein have been found for this gene.

The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in the development and function of natural killer cells, innate immunity, and induction of cell cycle arrest in naive CD8+ cells.

The transcriptional activator binds to DNA sequences containing the consensus 5'-WGGA-3'. It transactivates the promoters of the hematopoietic growth factor genes CSF2, IL3, IL8. It acts synergistically with RUNX1 in transactivating the IL3 promoter. It further plays a role in the development and function of NK and NK T cells and in innate immunity. Controls proliferation and homing of CD8+ T cells via Kruppel-like factors KLF4 and KLF2 (By similarity). Controls cell senescence in a p53-dependent manner.

Diseases associated with ELF4 include:

• Autoinflammatory syndrome, familial, X-linked, Behcet's-like 2
• and
• Isolated growth hormone deficiency, type 3, with agammaglobulinemia.

1. Sun G et al. (2022) Loss of function mutation in ELF4 causes autoinflammatory and immunodeficiency disease in humans. J Clin Immun
2. Tyler PM et al (2021) Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation. Nature Immun 22: 1118-1126.