HEY2

HEY2

HEY2 (also known as Hairy/enhancer-of-split related with YRPW motif protein 2) is a protein that in humans is encoded by the HEY2 gene. This gene is a member of the Hairy and Enhancer of Split (HES) family of basic helix-loop-helix (bHLH) transcription factors.

Function

HEY2 is involved in the regulation of cardiovascular development and is essential for the proper formation of the heart and blood vessels. It functions as a transcriptional repressor and plays a critical role in the Notch signaling pathway, which is important for cell differentiation processes.

Clinical Significance

Mutations in the HEY2 gene have been associated with various congenital heart defects and cardiomyopathies. Research has shown that alterations in HEY2 expression can lead to ventricular septal defects and other structural abnormalities in the heart.

Interactions

HEY2 interacts with other proteins in the Notch signaling pathway, including Notch1 and Notch2, to regulate gene expression. It also interacts with co-repressors such as Groucho to mediate transcriptional repression.

Research

Ongoing research is focused on understanding the precise mechanisms by which HEY2 regulates cardiovascular development and its potential role in heart disease. Studies are also exploring the possibility of targeting HEY2 in therapeutic interventions for heart defects.

See Also

• Notch signaling pathway
• Transcription factor
• Cardiovascular development

External Links

• HEY2 Gene - NCBI
• HEY2 Gene - GeneCards