TK2 wt Allele - CISMeF

Preferred Label : TK2 wt Allele;

NCIt synonyms : Thymidine Kinase 2, Mitochondrial wt Allele; MTDPS2; MTTK;

NCIt definition : Human TK2 wild-type allele is located within 16q22-q23.1 and is approximately 40 kb in length. This allele, which encodes thymidine kinase 2, mitochondrial protein, is involved in the mitochondrial salvage pathway and plays a role in the phosphorylation of thymidine, deoxycytidine, and deoxyuridine. Certain allelic variants of the TK2 gene are associated with myopathic mitochondrial DNA depletion syndrome.;

GenBank Accession Number : NM_004614;

Details

Origin ID

C51332;

UMLS CUI

C1710300;

Automatic exact mappings (from CISMeF team)
- Mitochondrial dna depletion syndrome 2 (myopathic type) [OMIM Phenotype]
- Transfer rna, mitochondrial, lysine [OMIM gene]
- mitochondrially encoded tRNA-Lys (AAA/G) [ORDO Gene]
OMIM relation
- Thymidine kinase, mitochondrial [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q22-q23.1 [NCIt concept]
gene_is_element_in_pathway
- Drug Metabolism by Non-CYP450 Enzymes Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Synthesis [NCIt concept]
- Phosphorylation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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