TERT wt Allele

Preferred Label : TERT wt Allele;

NCIt synonyms : hTRT; hTERT; DKCB4; Telomerase Reverse Transcriptase wt Allele; TERT; TCS1; TRT; EST2; hEST2; Telomerase Reverse Transcriptase Catalytic Subunit Gene; DKCA2; TP2; CMM9; PFBMFT1;

NCIt definition : Human TERT wild-type allele is located in the vicinity of 5p15.33 and is approximately 42 kb in length. This allele, which encodes telomerase reverse transcriptase protein, is involved in the replication of telomeres. Aberrant expression of the allele at elevated levels may contribute to oncogenesis.;

NCIt note : Alternative splicing at the TERT gene locus is thought to be one mechanism of regulation of telomerase activity.;

GenBank Accession Number : NM_003219;

Details

Origin ID

C52497;

UMLS CUI

C1705316;

OMIM relation
- Telomerase reverse transcriptase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Neuroblastoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5p15.33 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
gene_is_biomarker_type
- Prognostic Factor [NCIt concept]
gene_is_element_in_pathway
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
- IL2/PI3K Signaling Pathway [NCIt concept]
- Regulation of Apoptosis Pathway [NCIt concept]
- Telomerase Regulation Pathway [NCIt concept]
- Telomere Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Regulation Process [NCIt concept]
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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