Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7084
Gene name Gene Name - the full gene name approved by the HGNC.
Thymidine kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TK2
Synonyms (NCBI Gene) Gene synonyms aliases
MTDPS2, MTTK, PEOB3, SCA31, TK2-EXT
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MTDPS2, PEOB3, SCA31
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q21
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associ
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137854429 G>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs137854430 A>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs137854431 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs137854432 G>C Pathogenic Intron variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs137886900 G>A,C,T Uncertain-significance, pathogenic Synonymous variant, intron variant, coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017549 hsa-miR-335-5p Microarray 18185580
MIRT1425935 hsa-miR-129-3p CLIP-seq
MIRT1425936 hsa-miR-1908 CLIP-seq
MIRT1425937 hsa-miR-19a CLIP-seq
MIRT1425938 hsa-miR-19b CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004797 Function Thymidine kinase activity IEA
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005759 Component Mitochondrial matrix TAS
GO:0006139 Process Nucleobase-containing compound metabolic process TAS 9079672
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
188250 11831 ENSG00000166548
Protein
UniProt ID O00142
Protein name Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2'-deoxyuridine kinase TK2) (EC 2.7.1.74) (Deoxycytidine kinase TK2) (EC 2.7.1.-) (Mt-TK)
Protein function Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix (PubMed:11687801, PubMed:9989599). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01712 dNK 53 265 Deoxynucleoside kinase Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in liver, pancreas, muscle, and brain. {ECO:0000269|PubMed:9079672}.
Sequence
Sequence length 265
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Pyrimidine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism
  Pyrimidine salvage
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Developmental delay Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
External ophthalmoplegia External Ophthalmoplegia rs1569484022
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Progressive external ophthalmoplegia Chronic progressive external ophthalmoplegia, Autosomal recessive progressive external ophthalmoplegia ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Mitochondrial Diseases mitochondrial disease GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenylate Kinase Deficiency Hemolytic Anemia Due To Associate 32904881
Asthma Associate 39217320
Cardiomyopathy Dilated Associate 23695887
HELLP Syndrome Associate 31125140
Hypertrophy Left Ventricular Associate 37715114
Inflammation Associate 24484525
Lung Neoplasms Associate 32638267
Mitochondrial Diseases Associate 12493767, 23468942, 24198295, 32904881
Mitochondrial Diseases Stimulate 26087398
Mitochondrial DNA Depletion Syndrome Myopathic Form Associate 12493767