Aliases for TET2 Gene
External Ids for TET2 Gene
Previous HGNC Symbols for TET2 Gene
Previous GeneCards Identifiers for TET2 Gene
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. [provided by RefSeq, Mar 2011]
GeneCards Summary for TET2 Gene
TET2 (Tet Methylcytosine Dioxygenase 2) is a Protein Coding gene. Diseases associated with TET2 include Refractory Anemia and Aggressive Systemic Mastocytosis. Among its related pathways are MECP2 and Associated Rett Syndrome and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include ferrous iron binding and methylcytosine dioxygenase activity. An important paralog of this gene is TET3.
UniProtKB/Swiss-Prot Summary for TET2 Gene
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.