TERT (telomerase reverse transcriptase)

2003-02-01  

Identity

HGNC
TERT
LOCATION
5p15.33
LOCUSID
7015
ALIAS
CMM9,DKCA2,DKCB4,EST2,PFBMFT1,TCS1,TP2,TRT,hEST2,hTRT
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
351531792024Differential immunohistochemical expression of hTERT in lung cancer patients with and without idiopathic pulmonary fibrosis.3
377710772024Role of gene sequencing in classifying struma ovarii: BRAF p.G469A mutation and TERT promoter alterations favour malignant struma ovarii.3
378574872024Telomerase reverse transcriptase gene polymorphisms and cervical cancer susceptibility in high-risk human papillomavirus-infected women.0
379261122024A rare homozygous variant in TERT gene causing variable bone marrow failure, fragility fractures, rib anomalies and extremely short telomere lengths with high serum IgE.0
381033612024TERT promoter mutations and the outcome of patients with advanced urothelial carcinoma treated by platinum-based chemotherapy or pembrolizumab.1
381134092024Genetic trio of BRAF and TERT alterations and rs2853669TT in papillary thyroid cancer aggressiveness.2
381347102024Identification of IDH and TERTp mutations using dynamic susceptibility contrast MRI with deep learning in 162 gliomas.1
381412542024Whole tumor analysis reveals early origin of the TERT promoter mutation and intercellular heterogeneity in TERT expression.1
381531782024Clinical, histological, and molecular differences in melanoma due to different TERT promoter mutations subtypes. A retrospective cross-sectional study in 684 melanoma patients.0
381847732024Association of Ultrasonography Features of Follicular Thyroid Carcinoma With Tumor Invasiveness and Prognosis Based on WHO Classification and TERT Promoter Mutation.1
381974212024Genetic association study of TERT gene variants with chronic kidney disease susceptibility in the Chinese population.0
382248732024TERT promoter mutations in atypical melanocytic lesions: A series of seven cases with adverse melanoma-specific outcome.0
382365012024TERT single nucleotide polymorphism rs2736098 but not rs2736100 is associated with telomere length in HIV-infected patients on cART.0
382788002024The regulations of telomerase reverse transcriptase (TERT) in cancer.4
382964862024Association of hTERT Gene Polymorphism and Colorectal Cancer (CRC) Risk in the Chinese Han Population.0

Citation

Dessen P

TERT (telomerase reverse transcriptase)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/439/tert-(telomerase-reverse-transcriptase)