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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TET2
tet methylcytosine dioxygenase 2
Chromosome 4 · 4q24
NCBI Gene: 54790Ensembl: ENSG00000168769.15HGNC: HGNC:25941UniProt: A0A158SIU0
471PubMed Papers
23Diseases
0Drugs
177Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingferrous iron bindingzinc ion bindingleukocyte differentiationmyelodysplastic syndromeacute myeloid leukemianeoplasmimmunodeficiency 75
✦AI Summary

TET2 (tet methylcytosine dioxygenase 2) is a Fe2+ and α-ketoglutarate-dependent dioxygenase that catalyzes the oxidation of 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC) and subsequent derivatives, playing a crucial role in active DNA demethylation 1. The enzyme specifically recognizes CpG dinucleotides and shows substrate preference for 5mC in CpG contexts, with its catalytic cavity allowing accommodation of 5mC derivatives for iterative oxidation 1. Beyond its canonical demethylation function, TET2 regulates chr4 accessibility by oxidizing m5C in retrotransposon RNA, which prevents MBD6-mediated H2AK119ub deubiquitination and maintains chr4 in a more closed state 2. TET2 is essential for normal hematopoiesis, particularly myelopoiesis, and its loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation 3. Loss-of-function mutations in TET2 are frequently observed in clonal hematopoiesis, myelodysplastic syndrome, and acute myeloid leukemia 4. TET2-deficient cells show resistance to inflammatory stress, contributing to their selective advantage during aging 5. Additionally, TET2 functions independently of its demethylase activity in vascular smooth muscle cells, forming inhibitory complexes with HDAC1/2 and SNIP1 to suppress osteogenic gene expression and prevent vascular calcification 6.

Sources cited
1
TET2 is a Fe2+ and α-ketoglutarate-dependent dioxygenase that oxidizes 5mC to 5hmC and recognizes CpG dinucleotides
PMID: 24315485
2
TET2 oxidizes m5C in retrotransposon RNA and antagonizes MBD6-dependent chromatin opening
PMID: 39358506
3
TET2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation
PMID: 21723200
4
TET2 mutations are frequent in clonal hematopoiesis, MDS, and AML
PMID: 28823558
5
TET2-mutant cells show resistance to inflammatory stress during aging
PMID: 38917807
6
TET2 forms inhibitory complexes with HDAC1/2 and SNIP1 to prevent vascular calcification independent of demethylation
PMID: 40067382
Disease Associationsⓘ23
myelodysplastic syndromeOpen Targets
0.80Strong
acute myeloid leukemiaOpen Targets
0.76Strong
neoplasmOpen Targets
0.69Moderate
immunodeficiency 75Open Targets
0.69Moderate
chronic myelomonocytic leukemiaOpen Targets
0.69Moderate
lymphoid neoplasmOpen Targets
0.68Moderate
myeloid neoplasmOpen Targets
0.65Moderate
ebv-positive nodal t- and nk-cell lymphomaOpen Targets
0.65Moderate
hematologic diseaseOpen Targets
0.63Moderate
prostate carcinomaOpen Targets
0.62Moderate
chronic myelogenous leukemiaOpen Targets
0.62Moderate
myeloid leukemiaOpen Targets
0.61Moderate
myeloproliferative disorderOpen Targets
0.60Moderate
hematopoietic and lymphoid system neoplasmOpen Targets
0.60Moderate
monocytic leukemiaOpen Targets
0.60Moderate
hemorrhagic diseaseOpen Targets
0.60Moderate
purpuraOpen Targets
0.59Moderate
chronic myeloproliferative disorderOpen Targets
0.59Moderate
ThrombocytopeniaOpen Targets
0.59Moderate
Common Hematopoietic NeoplasmOpen Targets
0.59Moderate
Immunodeficiency 75 with lymphoproliferationUniProt
Myelodysplastic syndromeUniProt
Polycythemia veraUniProt
Pathogenic Variants177
NM_001127208.3(TET2):c.1864C>T (p.Gln622Ter)Pathogenic
not provided
★★☆☆2025→ Residue 622
NM_001127208.3(TET2):c.3222_3223insA (p.Asp1075fs)Pathogenic
not provided
★☆☆☆2026→ Residue 1075
NM_001127208.3(TET2):c.3646C>T (p.Arg1216Ter)Pathogenic
Neoplasm|not provided
★☆☆☆2026→ Residue 1216
NM_001127208.3(TET2):c.1630C>T (p.Arg544Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 544
NM_001127208.3(TET2):c.1720C>T (p.Gln574Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 574
NM_001127208.3(TET2):c.945del (p.Gln317fs)Pathogenic
not provided
★☆☆☆2025→ Residue 317
NM_001127208.3(TET2):c.1424_1433dup (p.Glu478delinsAspAlaPheTer)Pathogenic
not provided
★☆☆☆2025→ Residue 478
NM_001127208.3(TET2):c.3025del (p.Gln1009fs)Pathogenic
not provided
★☆☆☆2025→ Residue 1009
NM_001127208.3(TET2):c.4210C>T (p.Arg1404Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 1404
NM_001127208.3(TET2):c.4131del (p.Cys1378fs)Pathogenic
not provided
★☆☆☆2025→ Residue 1378
NM_001127208.3(TET2):c.860del (p.Lys287fs)Pathogenic
not provided
★☆☆☆2025→ Residue 287
NM_001127208.3(TET2):c.949C>T (p.Gln317Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 317
NM_001127208.3(TET2):c.3500+2delLikely pathogenic
not provided
★☆☆☆2025
NM_001127208.3(TET2):c.4393C>T (p.Arg1465Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 1465
NM_001127208.3(TET2):c.1691_1731dup (p.His578delinsGlyLeuAsnTer)Pathogenic
not provided
★☆☆☆2025→ Residue 578
NM_001127208.3(TET2):c.4062_4063del (p.Arg1354fs)Pathogenic
not provided
★☆☆☆2025→ Residue 1354
NM_001127208.3(TET2):c.2079del (p.Lys693fs)Pathogenic
not provided
★☆☆☆2025→ Residue 693
NM_001127208.3(TET2):c.4045-2A>CLikely pathogenic
not provided
★☆☆☆2025
NM_001127208.3(TET2):c.3409+1G>ALikely pathogenic
EBV-positive nodal T- and NK-cell lymphoma|not provided
★☆☆☆2025
NM_001127208.3(TET2):c.3691_3697del (p.Leu1231fs)Pathogenic
not provided
★☆☆☆2025→ Residue 1231
View on ClinVar ↗
Related Genes
EZH2Protein interaction100%RUNX1Protein interaction99%CEBPAProtein interaction99%PRDM14Protein interaction98%STAT5AProtein interaction97%STAT5BProtein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
40%
Ovary
26%
Heart
23%
Liver
17%
Brain
16%
Gene Interaction Network
Click a node to explore
TET2EZH2RUNX1CEBPAPRDM14STAT5ASTAT5B
PROTEIN STRUCTURE
Preparing viewer…
PDB5DEU · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
2.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF2.26 [1.88–2.00]
RankingsWhere TET2 stands among ~20K protein-coding genes
  • #571of 20,598
    Most Researched471 · top 5%
  • #406of 5,498
    Most Pathogenic Variants177 · top 10%
  • #17,838of 17,882
    Most Constrained (LOEUF)2.00
Genes detectedTET2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Loss of TET2 in human hematopoietic stem cells alters the development and function of neutrophils.
PMID: 37267914
Cell Stem Cell · 2023
1.00
2
The function and regulation of TET2 in innate immunity and inflammation.
PMID: 33085059
Protein Cell · 2021
0.90
3
RNA m
PMID: 39358506
Nature · 2024
0.80
4
Restoration of TET2 Function Blocks Aberrant Self-Renewal and Leukemia Progression.
PMID: 28823558
Cell · 2017
0.70
5
Human TET2 bridges cancer and immunity.
PMID: 32853377
Blood · 2020
0.64