TK2 (thymidine kinase 2)

2003-06-01  

Identity

HGNC
TK2
LOCATION
16q21
LOCUSID
7084
ALIAS
MTDPS2,MTTK,PEOB3,SCA31
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7084
MIM: 188250
HGNC: 11831
Ensembl: ENSG00000166548

Variants:

dbSNP: 7084
ClinVar: 7084
TCGA: ENSG00000166548
COSMIC: TK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166548ENST00000299697O00142
ENSG00000166548ENST00000417693A0A0A0MSY7
ENSG00000166548ENST00000451102O00142
ENSG00000166548ENST00000525974O00142
ENSG00000166548ENST00000527284O00142
ENSG00000166548ENST00000527800O00142
ENSG00000166548ENST00000544898O00142
ENSG00000166548ENST00000545043O00142
ENSG00000166548ENST00000561905J3KSZ2
ENSG00000166548ENST00000562484J3QL12
ENSG00000166548ENST00000563369O00142
ENSG00000166548ENST00000563478J3KS73
ENSG00000166548ENST00000564917H3BP77
ENSG00000166548ENST00000567357H3BV57
ENSG00000166548ENST00000569718J3QRP0
ENSG00000166548ENST00000620035O00142

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Pyrimidine metabolismKEGGko00240
Drug metabolism - other enzymesKEGGko00983
Pyrimidine metabolismKEGGhsa00240
Drug metabolism - other enzymesKEGGhsa00983
Metabolic pathwaysKEGGhsa01100
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G1-G1/S phasesREACTOMER-HSA-453279
G1/S TransitionREACTOMER-HSA-69206
G1/S-Specific TranscriptionREACTOMER-HSA-69205
E2F mediated regulation of DNA replicationREACTOMER-HSA-113510
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Pyrimidine metabolismREACTOMER-HSA-73848
Pyrimidine salvage reactionsREACTOMER-HSA-73614

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
174684352007A human-derived reporter gene for noninvasive imaging in humans: mitochondrial thymidine kinase type 2.42
219375882012Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.29
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
123913472002Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.26
124937672003Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy.19
179137032007Mitochondrial thymidine kinase and the enzymatic network regulating thymidine triphosphate pools in cultured human cells.17
182659752008Tracking cellular stress with labeled FMAU reflects changes in mitochondrial TK2.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
226617132012Oxidative stress induced S-glutathionylation and proteolytic degradation of mitochondrial thymidine kinase 2.16
185082662008Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.13

Citation

Dessen P

TK2 (thymidine kinase 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42577/tk2