TERC wt Allele

Preferred Label : TERC wt Allele;

NCIt synonyms : TERC; Telomerase RNA Component wt Allele; TRC3; TR; hTR; SCARNA19; PFBMFT2; DKCA1;

NCIt definition : Human TERC wild-type allele is located in the vicinity of 3q26 and is approximately 0.5 kb in length. This allele, which encodes telomerase RNA component, plays a role in the mediation of the formation of telomeres. Mutations in the gene may be associated with autosomal dominant dyskeratosis congenita, and some cases of aplastic anemia. Aberrant expression of the gene in somatic cells may be involved in oncogenesis.;

NCIt note : The TERC gene product is an RNA template for telomere sequences.;

GenBank Accession Number : NR_001566;

Details

Origin ID

C52491;

UMLS CUI

C1705312;

Automatic exact mappings (from CISMeF team)
- 46,xy sex reversal 11 [OMIM Phenotype]
- Coagulation factor II receptor [OMIM gene]
- Dyskeratosis congenita, autosomal dominant 1 [OMIM Phenotype]
- Telerehabilitation [MeSH Descriptor]
- Telomerase rna component [OMIM gene]
- Testicular regression syndrome [ORDO Disease]
- Transmembrane protein with egf-like and 2 follistatin-like domains 2 [OMIM gene]
- Treatment required for (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Tricuspid valve insufficiency [ICD-11 Category]
- autosomal dominant dyskeratosis congenita 1 [DO Concept]
- digital rectal examination [MeSH Descriptor]
- telomerase RNA [MeSH concept]
- telomerase RNA [MeSH Supplementary Concept]
- telomerase RNA component [ORDO Gene]
- thioredoxin reductase 2 [ORDO Gene]
- threonine-tRNA ligase activity [GO term]
- transplantation [MeSH Descriptor]
OMIM relation
- Telomerase rna component [OMIM gene]
See also inter- (CISMeF)
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 [OMIM Phenotype]
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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q26 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
gene_plays_role_in_process
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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