TET2 : tet methylcytosine dioxygenase 2

Description

The TET2 (tet methylcytosine dioxygenase 2) is a protein-coding gene located on chromosome 4.

The TET2 gene provides instructions for making a protein whose function is unknown. Based on the function of similar proteins, researchers believe the TET2 protein is involved in regulating the process of transcription, which is the first step in protein production. Although this protein is found throughout the body, it may play a particularly important role in the production of blood cells from hematopoietic stem cells. These stem cells are located within the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets. The TET2 protein appears to act as a tumor suppressor, which is a protein that prevents cells from growing and dividing in an uncontrolled way.

TET2 is an enzyme that plays a crucial role in DNA demethylation, a process that modifies the regulation of gene expression. Specifically, it catalyzes the conversion of 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC), a key step in this process. TET2 exhibits a preference for 5-hydroxymethylcytosine within CpG motifs, which are DNA sequences commonly found in gene regulatory regions. It further mediates the conversion of 5hmC to 5-formylcytosine (5fC) and subsequently to 5-carboxylcytosine (5caC). This stepwise conversion from 5mC to 5caC likely represents the initial step in cytosine demethylation. Demethylation is essential for proper gene regulation, as it affects the accessibility of DNA to transcription factors, ultimately influencing gene expression. Beyond its role in DNA demethylation, TET2 also participates in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, promoting histone H2B GlcNAcylation by OGT. This interaction further contributes to the regulation of gene expression.

TET2 is also known as IMD75, KIAA1546, MDS.

Associated Diseases

• Myelodysplastic neoplasm with low blasts
• Essential thrombocythemia
• Acquired idiopathic sideroblastic anemia
• Immunodeficiency 75
• Myelodysplastic syndrome
• Polycythemia vera
• Primary myelofibrosis
• Aggressive systemic mastocytosis
• Systemic mastocytosis with associated hematologic neoplasm
• Systemic mastocytosis