Information on TET2
Basic details
Alt. symbols: KIAA1546 | FLJ20032
Approved name: tet methylcytosine dioxygenase 2
Alt. names: KIAA1546, tet oncogene family member 2
Location: 4q24: 105145875 - 105279816 (+)
Gene type: protein_coding, 9 transcripts.
Scores: LoFtool: 0.998000 | pLI: 0.00000000 | LOEUF: 1.380
Normal function
Dysfunction and disease
Myelodysplastic syndrome, somatic [MIM:614286] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD75 |
Immunodeficiency 75 | AR |
619126 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of TET2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000305737.6 | 2 | CCDS3666 | protein_coding | 3 | No | 9233 | NM_017628 | |
| 209 | ENST00000540549.5 | CCDS47120 | protein_coding | 11 | No | 10166 | XM_054350272 | ||
| 203 | ENST00000380013.9 | 1 | CCDS47120 | Select | protein_coding | 11 | Yes | 9589 | NM_001127208 |
| 201 | ENST00000265149.9 | nonsense_mediated_decay | No | 9588 | XM_047415841 | ||||
| 207 | ENST00000513237.5 | protein_coding | 11 | No | 10166 | XM_054350272 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in TET2
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 50 |
2018 | Evaluating the Genetics of Common Variable Immunodeficiency:... | Front. Immunol. | 29867916 |
1 |
| 1101 |
2022 | Common Variable Immunodeficiency and Neurodevelopmental Dela... | Front. Immunol. | 35784294 |
5 |