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 |
|---|---|---|---|
| RS1049545383 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144467609 | Health Risk | Conflicting classifications of pathogenicity | TET2-related disorder, TET2-related disorder |
| RS146031219 | Health Risk | Conflicting classifications of pathogenicity | TET2-related disorder, TET2-related disorder |
| RS147591998 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS192879693 | Health Risk | Conflicting classifications of pathogenicity | TET2-related disorder, TET2-related disorder |
| RS2476505738 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS28555446 | Health Risk | Conflicting classifications of pathogenicity | TET2-related disorder, TET2-related disorder |
| RS568009712 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759055581 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 75, Immunodeficiency 75 |
| RS780710758 | Health Risk | Conflicting classifications of pathogenicity | EBV-positive nodal T- and NK-cell lymphoma, Myelodysplastic syndrome, Immunodeficiency 75 |
| RS1242089483 | Health Risk | Likely pathogenic | Myelodysplastic syndrome, Immunodeficiency 75, EBV-positive nodal T- and NK-cell lymphoma |
| RS1267484829 | Health Risk | Likely pathogenic | — |
| RS1578264146 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS2476498043 | Health Risk | Likely pathogenic | Immunodeficiency 75, Immunodeficiency 75 |
| RS2476499894 | Health Risk | Likely pathogenic | — |
| RS2476623405 | Health Risk | Likely pathogenic | — |
| RS377382567 | Health Risk | Likely pathogenic | — |
| RS771168522 | Health Risk | Likely pathogenic | TET2-related disorder, TET2-related disorder |
| RS772634266 | Health Risk | Likely pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS1021869760 | Health Risk | Pathogenic | — |
| RS1165986811 | Health Risk | Pathogenic | — |
| RS1223795843 | Health Risk | Pathogenic | — |
| RS1224691808 | Health Risk | Pathogenic | — |
| RS1231721810 | Health Risk | Pathogenic | — |
| RS1235228377 | Health Risk | Pathogenic | — |
| RS1245041497 | Health Risk | Pathogenic | Angioimmunoblastic T-cell lymphoma, Angioimmunoblastic T-cell lymphoma |
| RS1279700648 | Health Risk | Pathogenic | — |
| RS1322900367 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS1323211736 | Health Risk | Pathogenic | — |
| RS1352258641 | Health Risk | Pathogenic | Angioimmunoblastic T-cell lymphoma, Angioimmunoblastic T-cell lymphoma |
| RS1352624446 | Health Risk | Pathogenic | — |
| RS1386986367 | Health Risk | Pathogenic | — |
| RS1434577007 | Health Risk | Pathogenic | — |
| RS1440692352 | Health Risk | Pathogenic | — |
| RS1560544979 | Health Risk | Pathogenic | — |
| RS1728692644 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS1728693166 | Health Risk | Pathogenic | — |
| RS1728704616 | Health Risk | Pathogenic | — |
| RS1728711651 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS1728783958 | Health Risk | Pathogenic | — |
| RS1728991935 | Health Risk | Pathogenic | — |
| RS1729381211 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS1730329392 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS2110231198 | Health Risk | Pathogenic | Myelodysplastic syndrome, Myelodysplastic syndrome |
| RS2110232389 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS2110234873 | Health Risk | Pathogenic | — |
| RS2110237946 | Health Risk | Pathogenic | — |
| RS2110249286 | Health Risk | Pathogenic | — |
| RS2110306146 | Health Risk | Pathogenic | — |
| RS2110315013 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |