TELO2 (telomere maintenance 2)

2018-02-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
CLK2,TEL2,YHFS
FUSION GENES

Other Information

Locus ID:

NCBI: 9894
MIM: 611140
HGNC: 29099
Ensembl: ENSG00000100726

Variants:

dbSNP: 9894
ClinVar: 9894
TCGA: ENSG00000100726
COSMIC: TELO2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100726ENST00000262319Q9Y4R8
ENSG00000100726ENST00000497339H3BRS3
ENSG00000100726ENST00000567423H3BU45

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
mTOR signaling pathwayKEGGko04150
mTOR signaling pathwayKEGGhsa04150
Fanconi anemia pathwayKEGGko03460
Fanconi anemia pathwayKEGGhsa03460

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
208106502010A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability.87
204272872010Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.86
208640322010CK2 phospho-dependent binding of R2TP complex to TEL2 is essential for mTOR and SMG1 stability.73
246571682014Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death pathway by regulating CK2 phosphorylation of Tti1/Tel2.44
271325932016A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.10
226159252012The SAM domain of human TEL2 can abrogate transcriptional output from TEL1 (ETV-6) and ETS1/ETS2.4
273295942016Overexpression of TELO2 decreases survival in human high-grade gliomas.1

Citation

Dessen P

TELO2 (telomere maintenance 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57266/telo2