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 |
|---|---|---|---|
| RS2476478867 | Health Risk | Pathogenic | — |
| RS2476478959 | Health Risk | Pathogenic | — |
| RS2476479412 | Health Risk | Pathogenic | — |
| RS2476480847 | Health Risk | Pathogenic | — |
| RS2476480900 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS2476483849 | Health Risk | Pathogenic | — |
| RS2476483877 | Health Risk | Pathogenic | — |
| RS2476484066 | Health Risk | Pathogenic | — |
| RS2476484912 | Health Risk | Pathogenic | — |
| RS2476486500 | Health Risk | Pathogenic | — |
| RS2476490501 | Health Risk | Pathogenic | — |
| RS2476493668 | Health Risk | Pathogenic | — |
| RS2476493944 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS2476494544 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS2476498267 | Health Risk | Pathogenic | — |
| RS2476498425 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS2476499844 | Health Risk | Pathogenic | — |
| RS2476501020 | Health Risk | Pathogenic | — |
| RS2476501205 | Health Risk | Pathogenic | — |
| RS2476501487 | Health Risk | Pathogenic | — |
| RS2476501613 | Health Risk | Pathogenic | — |
| RS2476501669 | Health Risk | Pathogenic | — |
| RS2476502798 | Health Risk | Pathogenic | — |
| RS2476502834 | Health Risk | Pathogenic | — |
| RS2476503118 | Health Risk | Pathogenic | — |
| RS2476503281 | Health Risk | Pathogenic | — |
| RS2476508282 | Health Risk | Pathogenic | — |
| RS2476510505 | Health Risk | Pathogenic | — |
| RS2476527079 | Health Risk | Pathogenic | — |
| RS2476533151 | Health Risk | Pathogenic | — |
| RS2476533266 | Health Risk | Pathogenic | — |
| RS2476533556 | Health Risk | Pathogenic | Third degree atrioventricular block, Third degree atrioventricular block |
| RS2476533686 | Health Risk | Pathogenic | — |
| RS2476537310 | Health Risk | Pathogenic | Clonal hematopoiesis, Clonal hematopoiesis |
| RS2476537887 | Health Risk | Pathogenic | — |
| RS2476537984 | Health Risk | Pathogenic | — |
| RS2476537994 | Health Risk | Pathogenic | — |
| RS2476623170 | Health Risk | Pathogenic | — |
| RS2476623472 | Health Risk | Pathogenic | — |
| RS2476638607 | Health Risk | Pathogenic | — |
| RS2476695032 | Health Risk | Pathogenic | — |
| RS2476721130 | Health Risk | Pathogenic | — |
| RS2476722357 | Health Risk | Pathogenic | — |
| RS2476723585 | Health Risk | Pathogenic | — |
| RS2476724648 | Health Risk | Pathogenic | — |
| RS2476726335 | Health Risk | Pathogenic | — |
| RS2476750584 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS572712965 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS575928986 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS745705515 | Health Risk | Pathogenic | — |