Recombinant Human Methylcytosine dioxygenase TET2 (TET2), Truncated

Uniprot Id

Q6N021

Target Species

Human

Target Name

TET2

Target Full Name

Methylcytosine dioxygenase TET2

Target Function

Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for 5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT.

Target Involvement

Polycythemia vera (PV); Myelodysplastic syndrome (MDS)

Target Protein Families

TET family

Target Tissue Specificity

Broadly expressed. Highly expressed in hematopoietic cells; highest expression observed in granulocytes. Expression is reduced in granulocytes from peripheral blood of patients affected by myelodysplastic syndromes.

Target Synonyms

FLJ20032; KIAA1546; MDS; Methylcytosine dioxygenase TET2; Nbla00191; Probable methylcytosine dioxygenase TET2; Protein Ayu17 449; Tet 2; Tet methylcytosine dioxygenase 2; Tet oncogene 2; Tet oncogene family member 2; TET2; TET2_HUMAN

Target Background

The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene.