JARID2

JARID2 or Jumonji, AT Rich Interactive Domain 2 is a protein that in humans is encoded by the JARID2 gene. JARID2 is a member of the ARID (AT-rich interaction domain) family of proteins, which have a variety of functions, including transcriptional regulation, cell cycle control, and development.

Function

JARID2 is a nuclear protein that is involved in the regulation of histone modification. It is a key component of the Polycomb Repressive Complex 2 (PRC2) and plays a crucial role in embryonic development and stem cell differentiation. JARID2 recruits PRC2 to target genes and modulates its activity, leading to the methylation of histone H3 at lysine 27 (H3K27me3), a mark of transcriptional repression.

Clinical Significance

Mutations in the JARID2 gene have been associated with several diseases. For example, JARID2 mutations have been found in individuals with congenital heart defects, suggesting a role for this gene in cardiac development. Additionally, JARID2 has been implicated in cancer, as its dysregulation can contribute to the proliferation and survival of cancer cells.

Research

Research on JARID2 is ongoing, with studies focusing on its role in development, disease, and potential therapeutic applications. For example, understanding how JARID2 regulates stem cell differentiation could lead to advances in regenerative medicine.

See Also

• Polycomb-group proteins
• Epigenetics
• Histone modification