TERT (telomerase reverse transcriptase)

2003-02-01  

Identity

HGNC
LOCATION
5p15.33
LOCUSID
ALIAS
CMM9,DKCA2,DKCB4,EST2,PFBMFT1,TCS1,TP2,TRT,hEST2,hTRT
FUSION GENES

Other Information

Locus ID:

NCBI: 7015
MIM: 187270
HGNC: 11730
Ensembl: ENSG00000164362

Variants:

dbSNP: 7015
ClinVar: 7015
TCGA: ENSG00000164362
COSMIC: TERT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164362ENST00000310581O14746
ENSG00000164362ENST00000334602O14746
ENSG00000164362ENST00000460137O14746
ENSG00000164362ENST00000656021A0A590UK92

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Formation of the beta-catenin:TCF transactivating complexREACTOMER-HSA-201722
Cell CycleREACTOMER-HSA-1640170
Chromosome MaintenanceREACTOMER-HSA-73886
Telomere MaintenanceREACTOMER-HSA-157579
Extension of TelomeresREACTOMER-HSA-180786
Telomere Extension By TelomeraseREACTOMER-HSA-171319

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
233485062013Highly recurrent TERT promoter mutations in human melanoma.574
233485032013TERT promoter mutations in familial and sporadic melanoma.554
235302482013TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal.430
260617532015Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors.412
173923012007Telomerase mutations in families with idiopathic pulmonary fibrosis.411
129129192003Reversal of human cellular senescence: roles of the p53 and p16 pathways.383
195783672009Genome-wide association study identifies five susceptibility loci for glioma.340
174600432007Adult-onset pulmonary fibrosis caused by mutations in telomerase.297
191517172009Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.268
198360082009A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.266

Citation

Dessen P

TERT (telomerase reverse transcriptase)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/439/tert