Identity
HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
CLK2,TEL2,YHFS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9894
MIM: 611140
HGNC: 29099
Ensembl: ENSG00000100726
Variants:
dbSNP: 9894
ClinVar: 9894
TCGA: ENSG00000100726
COSMIC: TELO2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100726 | ENST00000262319 | Q9Y4R8 |
| ENSG00000100726 | ENST00000497339 | H3BRS3 |
| ENSG00000100726 | ENST00000567423 | H3BU45 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| mTOR signaling pathway | KEGG | ko04150 |
| mTOR signaling pathway | KEGG | hsa04150 |
| Fanconi anemia pathway | KEGG | ko03460 |
| Fanconi anemia pathway | KEGG | hsa03460 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36797513 | 2023 | TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature. | 3 |
| 36797513 | 2023 | TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature. | 3 |
| 34838521 | 2022 | Structure of the Human TELO2-TTI1-TTI2 Complex. | 6 |
| 34838521 | 2022 | Structure of the Human TELO2-TTI1-TTI2 Complex. | 6 |
| 33307281 | 2021 | Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant. | 3 |
| 33416177 | 2021 | TELO2 induced progression of colorectal cancer by binding with RICTOR through mTORC2. | 30 |
| 33307281 | 2021 | Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant. | 3 |
| 33416177 | 2021 | TELO2 induced progression of colorectal cancer by binding with RICTOR through mTORC2. | 30 |
| 32940098 | 2020 | Cataract in You-Hoover-Fong syndrome: TELO2 deficiency. | 3 |
| 32940098 | 2020 | Cataract in You-Hoover-Fong syndrome: TELO2 deficiency. | 3 |
| 27132593 | 2016 | A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. | 21 |
| 27329594 | 2016 | Overexpression of TELO2 decreases survival in human high-grade gliomas. | 3 |
| 27132593 | 2016 | A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. | 21 |
| 27329594 | 2016 | Overexpression of TELO2 decreases survival in human high-grade gliomas. | 3 |
| 24657168 | 2014 | Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death pathway by regulating CK2 phosphorylation of Tti1/Tel2. | 72 |
Citation
Dessen P
TELO2 (telomere maintenance 2)
Atlas Genet Cytogenet Oncol Haematol. 2018-02-01
Online version: http://atlasgeneticsoncology.org/gene/57266/telo2-(telomere-maintenance-2)
