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FLASH GENE

Symbol

TERT

contributors: mct/ - updated : 11-09-2019

HGNC name	telomerase reverse transcriptase
HGNC id	11730

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DKC3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       gain of function in cancer tumoral     --over   with BIRC5 in soft tissue sarcoma with very poor outlook constitutional somatic mutation       impair telomerase activity by haploinsufficiency and may be risk factors for marrow failure constitutional     --over   increases stem-like properties and decreases spontaneous differentiation in human mesenchymal stem cell lines tumoral somatic mutation       in 71p 100 of melanomas (pMID: 23348506) tumoral germinal mutation       mutations creating Ets/TCF binding motifs in the TERT promoter in familial melanoma tumoral fusion       IRX2-TERT fusion in clear cell sarcoma of the kidney

Susceptibility

susceptibility to idiopathic pulmonary fibrosis to lung adenocarcinoma to squamous cell carcinoma of the head and neck to haematological malignancies, including myelodysplastic syndrome and acute myeloid leukaemia as well as chronic lymphocytic leukaemia to age-related disease idiopathic pulmonary fibrosis with telomere shortening to testicular germ cell tumor (TGCT) to variation of telomere length, to Telomere length (TL) shortening to uveal melanoma (UM)

Variant & Polymorphism SNP	significant association of an SNP in intron 2 of the TERT gene (rs2736100), which encodes a reverse transcriptase that is a component of a telomerase, to idiopathic pulmonary fibrosis
	variants in TERT can impede telomere elongation causing stem cells to enter premature replicative senescence and/or apoptosis as telomeres become critically short
	SNPs of TERT-rs2736098 (C > T) and CLPTM1L-rs401681(C > T), may be associated with a reduced risk of squamous cell carcinoma of the head and neck, particularly for their combined effect
	rs2736100 associated with risk of lung adenocarcinoma
	association between genetic marker rs2735940 and TGCT risk
	variants associated with increased risk of haematological malignancies, including myelodysplastic syndrome and acute myeloid leukaemia as well as chronic lymphocytic leukaemia
	two non-synonymous substitutions in the catalytic domain of the telomerase reverse transcriptase gene TERT: V791I and V867M increasing the risk of age-related disease idiopathic pulmonary fibrosis with telomere shortening
	in UM rs452384 is a functional variant that mediates allele-specific binding of the NKX2.4 nuclear factor and the transcriptional activity of the region, including TERT and CLPTM1L
	exposure to polycyclic aromatic hydrocarbons (PAHs) can accelerate the TL shortening and this effect can be modified by TERT-CLPTM1L variants

Candidate gene
Marker
Therapy target	TERT gene-based drug design may be useful in the treatment of leukemic myelopoiesis

ANIMAL & CELL MODELS

mouse lacking telomerase activity display decrease proliferation in testis and increased apoptosis