Gene table of TK2 : thymidine kinase 2, mitochondrial

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TK2	OMIM link	Number of associated genes	genes
PS603041	MITOCHONDRIAL DNA DEPLETION SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	14	RRM2B, SLC25A4, AGK, C10orf2, FBXL4, SUCLG1, MGME1, POLG, MPV17, TK2, SUCLA2, DGUOK, OPA1, TYMP

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Drug metabolism - other enzymes	hsa00983	7.21
Metabolic pathways	hsa01100	2.49
Pyrimidine metabolism	hsa00240	6.01

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Mitotic G1-G1/S phases	R-HSA-453279	5.91
G1/S Transition	R-HSA-69206	6.21
Pyrimidine salvage reactions	R-HSA-73614	9.81
G1/S-Specific Transcription	R-HSA-69205	8.89
Pyrimidine metabolism	R-HSA-73848	8.4
Cell Cycle, Mitotic	R-HSA-69278	4.16
Metabolism of nucleotides	R-HSA-15869	6.7
Cell Cycle	R-HSA-1640170	3.89
Metabolism	R-HSA-1430728	2.34
E2F mediated regulation of DNA replication	R-HSA-113510	7.94

Associated GO terms for Molecular function

GO term	GO ID	GO IC
nucleoside kinase activity	GO:0019206	7.1
nucleobase-containing compound kinase activity	GO:0019205	5.85
purine ribonucleoside triphosphate binding	GO:0035639	2.22
deoxynucleoside kinase activity	GO:0019136	8.35
deoxycytidine kinase activity	GO:0004137	9.05
binding	GO:0005488	0.18
thymidine kinase activity	GO:0004797	9.05
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
nucleotide binding	GO:0000166	1.96
transferase activity	GO:0016740	1.95
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
kinase activity	GO:0016301	2.93
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
adenyl ribonucleotide binding	GO:0032559	2.41
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19