TET2

Chr 4q24

tet methylcytosine dioxygenase 2

Aliases:: FLJ20032
MANE:: ENST00000380013.9

OMIM: 612839 ↗NCBI: 54790 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TET2 · Q6N021

v62025-08-01

Predicted Aligned Error matrix for TET2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

47.1/ 100

Very low

2,002 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)4%
Low(50–70)4%
Very low(< 50)74%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
Unknown
Cytopenias and congenital anaemias
Other - please specify in evaluation comments

Disease associations (Open Targets)

myelodysplastic syndrome
0.80
acute myeloid leukemia
0.75
neoplasm
0.69
immunodeficiency 75
0.69
chronic myelomonocytic leukemia
0.69
lymphoid neoplasm
0.68
myeloid neoplasm
0.65
ebv-positive nodal t- and nk-cell lymphoma
0.65
hematologic disorder
0.63
chronic myelogenous leukemia, BCR-ABL1 positive
0.62

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Methylcytosine dioxygenase TET2

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

Curated MONDO disease pages that list TET2 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with TET2