TET2 Chromosome 4
Tet methylcytosine dioxygenase 2
Upload your DNA to see your personal genotypes for variants in TET2.
What This Gene Does
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]
Gene Info
Gene Group
Tet methylcytosine dioxygenase family
Locus Type
gene with protein product
Location
4q24
Ensembl
ENSG00000168769
Associated Conditions (8)
TET2-related disorder
Immunodeficiency 75
EBV-positive nodal T- and NK-cell lymphoma
Myelodysplastic syndrome
Multiple myeloma
Angioimmunoblastic T-cell lymphoma
Third degree atrioventricular block
Clonal hematopoiesis
Key Variants
RS1049545383
Conflicting classifications of pathogenicity
Health Risk
RS144467609
Conflicting classifications of pathogenicity
TET2-related disorder, TET2-related disorder
Health Risk
RS146031219
Conflicting classifications of pathogenicity
TET2-related disorder, TET2-related disorder
Health Risk
RS147591998
Conflicting classifications of pathogenicity
Health Risk
RS192879693
Conflicting classifications of pathogenicity
TET2-related disorder, TET2-related disorder
Health Risk
RS2476505738
Conflicting classifications of pathogenicity
Health Risk
RS28555446
Conflicting classifications of pathogenicity
TET2-related disorder, TET2-related disorder
Health Risk
RS568009712
Conflicting classifications of pathogenicity
Health Risk
RS759055581
Conflicting classifications of pathogenicity
Immunodeficiency 75, Immunodeficiency 75
Health Risk
RS780710758
Conflicting classifications of pathogenicity
EBV-positive nodal T- and NK-cell lymphoma, Myelodysplastic syndrome, Immunodeficiency 75
Health Risk
RS1242089483
Likely pathogenic
Myelodysplastic syndrome, Immunodeficiency 75, EBV-positive nodal T- and NK-cell lymphoma
Health Risk
RS1267484829
Likely pathogenic
Health Risk
All Variants (109)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS752071309 | Health Risk | Pathogenic | — |
| RS755283040 | Health Risk | Pathogenic | — |
| RS771408533 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS773810711 | Health Risk | Pathogenic | — |
| RS777145283 | Health Risk | Pathogenic | — |
| RS780043982 | Health Risk | Pathogenic | — |
| RS780857558 | Health Risk | Pathogenic | — |
| RS974106601 | Health Risk | Pathogenic | — |
| RS1267284740 | Health Risk | Pathogenic/Likely pathogenic | — |