IKZF2

IKZF2 (also known as Helios) is a transcription factor that is encoded by the IKZF2 gene in humans. It is a member of the Ikaros family of zinc-finger proteins, which play a crucial role in the immune system and hematopoiesis.

Structure

The IKZF2 gene is located on the q arm of chromosome 2 at position 35. It spans approximately 18.3 kilobases and consists of 8 exons. The protein encoded by this gene contains four N-terminal C2H2-type zinc finger domains, which are involved in DNA binding, and two C-terminal C2H2-type zinc finger domains, which are involved in protein interactions.

Function

IKZF2 is primarily expressed in T cells and natural killer cells. It plays a critical role in the development and function of these cells. IKZF2 regulates the expression of target genes by binding to specific DNA sequences in their promoter regions. It is also involved in the regulation of cell cycle and apoptosis.

Clinical significance

Mutations in the IKZF2 gene have been associated with various diseases, including autoimmune diseases and cancer. For example, overexpression of IKZF2 has been observed in T-cell acute lymphoblastic leukemia (T-ALL) and is associated with poor prognosis. In contrast, loss of IKZF2 function has been linked to the development of autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis.

Research

Research is ongoing to better understand the role of IKZF2 in health and disease. For instance, studies are being conducted to investigate the potential of targeting IKZF2 for the treatment of diseases in which it is dysregulated.

File:IKZF2 gene location on human chromosome 2.png

Location of the IKZF2 gene on human chromosome 2.

See also

• Ikaros family
• Transcription factor
• Zinc finger