TET2

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]

TET2 Gene(Protein Coding) Tet Methylcytosine Dioxygenase 2

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.

Biological Process 5-methylcytosine catabolic processSource:UniProtKB1 Publication
Biological Process cell cycleSource:UniProtKB-KW
Biological Process chromatin organizationSource:UniProtKB-KW
Biological Process DNA demethylationSource:UniProtKB1 Publication
Biological Process histone H3-K4 trimethylationSource:UniProtKB1 Publication
Biological Process leukocyte differentiationSource:UniProtKB1 Publication
Biological Process myeloid cell differentiationSource:UniProtKB1 Publication
Biological Process oxidative demethylationSource:GO_Central1 Publication
Biological Process oxidative DNA demethylationSource:UniProtKB1 Publication
Biological Process positive regulation of transcription by RNA polymerase IISource:UniProtKB2 Publications
Biological Process protein O-linked glycosylationSource:UniProtKB1 Publication
Biological Process response to organic cyclic compoundSource:Ensembl

Nucleus

Polycythemia vera (PV):
A myeloproliferative disorder characterized by abnormal proliferation of all hematopoietic bone marrow elements, erythroid hyperplasia, an absolute increase in total blood volume, but also by myeloid leukocytosis, thrombocytosis and splenomegaly.
Myelodysplastic syndrome (MDS):
A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML).
Immunodeficiency 75 (IMD75):
An autosomal recessive immunologic disorder characterized by recurrent infections, mainly viral and affecting the respiratory tract, immunodeficieny, immune dysregulation, and the development of lymphoproliferative disorders, including lymphoma.

May be glycosylated. It is unclear whether interaction with OGT leads to GlcNAcylation. According to a report, it is not GlcNAcylated by OGT (PubMed:23353889).
In contrast, another group reports GlcNAcylation by OGT in mouse ortholog.