TET3 Chromosome 2
Tet methylcytosine dioxygenase 3
Upload your DNA to see your personal genotypes for variants in TET3.
What This Gene Does
Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; methyl-CpG binding activity; and zinc ion binding activity. Involved in positive regulation of transcription by RNA polymerase II and protein O-linked glycosylation. Predicted to be located in cytoplasm and male pronucleus. Predicted to be active in nucleus. Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers CXXC-type|Tet methylcytosine dioxygenase family"
Locus Type
gene with protein product
Location
2p13.1
Ensembl
ENSG00000187605
Associated Conditions (6)
Beck-Fahrner syndrome
TET3 deficiency
Inborn genetic diseases
TET3-related disorder
Multiple myeloma
Intellectual disability
Key Variants
RS1174857008
Conflicting classifications of pathogenicity
Beck-Fahrner syndrome, TET3 deficiency, Beck-Fahrner syndrome
Health Risk
RS1573856970
Conflicting classifications of pathogenicity
Beck-Fahrner syndrome, TET3 deficiency, Inborn genetic diseases
Health Risk
RS1691236972
Conflicting classifications of pathogenicity
TET3 deficiency, Beck-Fahrner syndrome, TET3 deficiency
Health Risk
RS182086301
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS183678709
Conflicting classifications of pathogenicity
Health Risk
RS190925009
Conflicting classifications of pathogenicity
Health Risk
RS200199642
Conflicting classifications of pathogenicity
Health Risk
RS200937244
Conflicting classifications of pathogenicity
Health Risk
RS201500476
Conflicting classifications of pathogenicity
Health Risk
RS1314007418
Likely pathogenic
TET3-related disorder, TET3-related disorder
Health Risk
RS1690249361
Likely pathogenic
Beck-Fahrner syndrome, Beck-Fahrner syndrome
Health Risk
RS1690250283
Likely pathogenic
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1174857008 | Health Risk | Conflicting classifications of pathogenicity | Beck-Fahrner syndrome, TET3 deficiency, Beck-Fahrner syndrome |
| RS1573856970 | Health Risk | Conflicting classifications of pathogenicity | Beck-Fahrner syndrome, TET3 deficiency, Inborn genetic diseases |
| RS1691236972 | Health Risk | Conflicting classifications of pathogenicity | TET3 deficiency, Beck-Fahrner syndrome, TET3 deficiency |
| RS182086301 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS183678709 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS190925009 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200199642 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200937244 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201500476 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1314007418 | Health Risk | Likely pathogenic | TET3-related disorder, TET3-related disorder |
| RS1690249361 | Health Risk | Likely pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS1690250283 | Health Risk | Likely pathogenic | — |
| RS2104065629 | Health Risk | Likely pathogenic | — |
| RS2104198321 | Health Risk | Likely pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS2104214893 | Health Risk | Likely pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS2104233612 | Health Risk | Likely pathogenic | — |
| RS2104234030 | Health Risk | Likely pathogenic | — |
| RS2467149782 | Health Risk | Likely pathogenic | — |
| RS2467150839 | Health Risk | Likely pathogenic | — |
| RS2467434544 | Health Risk | Likely pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS2467441966 | Health Risk | Likely pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS2467442575 | Health Risk | Likely pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS2467623019 | Health Risk | Likely pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS2467635159 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2467635315 | Health Risk | Likely pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS2467651823 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2467657005 | Health Risk | Likely pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS2467684945 | Health Risk | Likely pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS2528198828 | Health Risk | Likely pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS751524927 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS759623160 | Health Risk | Likely pathogenic | Inborn genetic diseases, Beck-Fahrner syndrome, TET3-related disorder |
| RS868736245 | Health Risk | Likely pathogenic | TET3-related disorder, TET3-related disorder |
| RS1687748823 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2103698244 | Health Risk | Pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS2467657092 | Health Risk | Pathogenic | — |
| RS2467686025 | Health Risk | Pathogenic | Beck-Fahrner syndrome, Beck-Fahrner syndrome |
| RS1227643933 | Health Risk | Pathogenic/Likely pathogenic | Beck-Fahrner syndrome, TET3 deficiency, Intellectual disability |
| RS1572907400 | Health Risk | Pathogenic/Likely pathogenic | Beck-Fahrner syndrome, TET3 deficiency, Beck-Fahrner syndrome |
| RS1572907595 | Health Risk | Pathogenic/Likely pathogenic | Beck-Fahrner syndrome, TET3 deficiency, Beck-Fahrner syndrome |
| RS1573779765 | Health Risk | Pathogenic/Likely pathogenic | Beck-Fahrner syndrome, TET3 deficiency, Beck-Fahrner syndrome |
| RS1573906351 | Health Risk | Pathogenic/Likely pathogenic | Beck-Fahrner syndrome, TET3 deficiency, Beck-Fahrner syndrome |
| RS1573906389 | Health Risk | Pathogenic/Likely pathogenic | Beck-Fahrner syndrome, TET3 deficiency, Beck-Fahrner syndrome |
| RS2104122592 | Health Risk | Pathogenic/Likely pathogenic | — |