Showing entry for Thymidine kinase 2, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT003883
Protein NameThymidine kinase 2, mitochondrial
Uniport IdO00142
GeneTK2
Gene Id7084
DomaindNK
Pfam PF01712  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.4 Nucleotide metabolism hsa00240 Pyrimidine metabolism
1. Metabolism 1.11 Xenobiotics biodegradation and metabolism hsa00983 Drug metabolism - other enzymes
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0046092 deoxycytidine metabolic process
Biological Process GO:0071897 DNA biosynthetic process
Biological Process GO:0006139 nucleobase-containing compound metabolic process
Biological Process GO:0043097 pyrimidine nucleoside salvage
Biological Process GO:0046104 thymidine metabolic process
molecular function GO:0005524 ATP binding
molecular function GO:0004137 deoxycytidine kinase activity
molecular function GO:0019136 deoxynucleoside kinase activity
molecular function GO:0019206 nucleoside kinase activity
molecular function GO:0004797 thymidine kinase activity
cellular component GO:0005737 cytoplasm
cellular component GO:0005759 mitochondrial matrix
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-15869 Metabolism of nucleotides
R-HSA-73614 Pyrimidine salvage
R-HSA-8956321 Nucleotide salvage
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001125 BXGD000024 Acidosis, Lactic Nutritional and Metabolic Diseases
C0002895 BXGD000152 Anemia, Sickle Cell Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0010273 BXGD000658 Craniofacial Dysostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014550 BXGD000930 Myoclonic Epilepsy Nervous System Diseases
C0015469 BXGD000996 Facial paralysis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0019348 BXGD001325 Herpes Simplex Infections Infections; Skin and Connective Tissue Diseases
C0022107 BXGD001530 Irritable Mood Behavior and Behavior Mechanisms
C0024408 BXGD001768 Machado-Joseph Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026847 BXGD001940 Spinal Muscular Atrophy Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029134 BXGD002118 Optic Neuritis Eye Diseases; Nervous System Diseases
C0030554 BXGD002239 Paresthesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0035300 BXGD002526 Abnormal retinal morphology Eye Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037952 BXGD002719 Spinocerebellar Degeneration Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0085605 BXGD003200 Liver Failure Digestive System Diseases
C0087012 BXGD003318 Ataxia, Spinocerebellar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0151564 BXGD003440 Cogwheel Rigidity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151583 BXGD003443 Abnormality of the cerebrospinal fluid Nervous System Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152109 BXGD003542 Juvenile Spinal Muscular Atrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0162292 BXGD003930 External Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0162666 BXGD003967 Mitochondrial Encephalomyopathies Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0162670 BXGD003970 Mitochondrial Myopathies Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0162672 BXGD003972 MERRF Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0162674 BXGD003973 Chronic progressive external ophthalmoplegia Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0205851 BXGD004132 Germ cell tumor Neoplasms
C0221170 BXGD004400 Muscular stiffness Nervous System Diseases
C0221629 BXGD004467 Proximal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0231528 BXGD004496 Myalgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0231688 BXGD004510 Gait, Shuffling Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0233565 BXGD004590 Bradykinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234182 BXGD004631 Gowers sign
C0234376 BXGD004659 Action Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234533 BXGD004687 Generalized seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235031 BXGD004714 Neurologic Symptoms Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0238198 BXGD004893 Gastrointestinal Stromal Tumors Digestive System Diseases; Neoplasms
C0238621 BXGD004947 Aminoaciduria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0239831 BXGD004999 Hand muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0240953 BXGD005067 Winged scapula
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0241237 BXGD005088 Difficulty standing Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0241700 BXGD005108 Voice Fatigue Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0259813 BXGD005225 Drop Attack Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0265219 BXGD005468 Miller Dieker syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0270749 BXGD006098 Marie Cerebellar Ataxia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0270846 BXGD006116 Epileptic drop attack Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0333751 BXGD006966 Muscle fiber atrophy
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0342782 BXGD007549 Depletion of mitochondrial DNA
C0342788 BXGD007552 Renal carnitine transport defect Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C0424448 BXGD008529 Mask-like facies Nervous System Diseases
C0424551 BXGD008533 Impaired exercise tolerance
C0427055 BXGD008601 Facial Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0427065 BXGD008604 Distal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0518656 BXGD009071 Chronic fatigue Pathological Conditions, Signs and Symptoms
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0541794 BXGD009262 Skeletal muscle atrophy
C0587246 BXGD009616 Muscle weakness of limb Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0694550 BXGD009852 Recurrent pneumonia Infections; Respiratory Tract Diseases
C0740279 BXGD009973 Cerebellar atrophy
C0746674 BXGD010147 Generalized muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0751772 BXGD010583 REM Sleep Behavior Disorder Nervous System Diseases; Mental Disorders
C0751781 BXGD010590 Dentatorubral-Pallidoluysian Atrophy Nervous System Diseases
C0752124 BXGD010672 Spinocerebellar Ataxia Type 6 (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0858618 BXGD011184 Dyschromatopsia
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0917796 BXGD011408 Optic Atrophy, Hereditary, Leber Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
C0948163 BXGD011511 Leukoaraiosis Pathological Conditions, Signs and Symptoms
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1389113 BXGD012965 Generalized amyotrophy
C1449563 BXGD013086 Cardiomyopathy, Familial Idiopathic Cardiovascular Diseases
C1533847 BXGD013318 Disorder of skeletal muscle Musculoskeletal Diseases; Nervous System Diseases
C1835993 BXGD014068 Loss of ability to walk in early childhood
C1836003 BXGD014069 Facial diplegia Infections; Nervous System Diseases; Stomatognathic Diseases
C1836156 BXGD014085 Progressive proximal muscle weakness
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1836830 BXGD014165 Developmental regression Mental Disorders
C1837454 BXGD014232 SPINOCEREBELLAR ATAXIA 8 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1837658 BXGD014257 Gross motor development delay Mental Disorders
C1839780 BXGD014405 FRAGILE X TREMOR/ATAXIA SYNDROME Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1842587 BXGD014526 Sensory axonal neuropathy
C1843920 BXGD014619 COENZYME Q10 DEFICIENCY Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C1846149 BXGD014786 Intellectual disability, progressive Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1846868 BXGD014846 Parkinsonism with favorable response to dopaminergic medication Nervous System Diseases
C1847584 BXGD014876 Distal sensory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1847987 BXGD014900 HUNTINGTON DISEASE-LIKE 2 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C1850303 BXGD015127 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C1854301 BXGD015391 Motor delay Mental Disorders
C1856408 BXGD015603 Infantile encephalopathy Nervous System Diseases
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1861403 BXGD016045 Variable expressivity
C1865916 BXGD016355 Bilateral ptosis Eye Diseases
C1866284 BXGD016394 Motor deterioration Mental Disorders
C1866751 BXGD016422 Spinocerebellar tract degeneration Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1867873 BXGD016473 Failure to thrive in infancy
C1963674 BXGD016692 Spinocerebellar Ataxia 10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2700617 BXGD017474 Irritation - emotion Behavior and Behavior Mechanisms
C2931196 BXGD017974 Craniofacial dysostosis type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2931689 BXGD018049 Dystrophia myotonica 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C2931928 BXGD018095 Mitochondrial cytopathy Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C3149750 BXGD018286 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3275417 BXGD018663 Ragged-red muscle fibers
C3463824 BXGD018899 MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases
C3501891 BXGD019033 Mitochondrial DNA Depletion Syndrome, Myopathic Form Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3806467 BXGD019513 Respiratory insufficiency due to muscle weakness Respiratory Tract Diseases
C3854222 BXGD019826 Human immunodeficiency virus (HIV) II infection category B1
C4021521 BXGD020649 Depletion of mitochondrial DNA in muscle tissue
C4021533 BXGD020656 Severe sensorineural hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4021535 BXGD020658 Infantile sensorineural hearing impairment
C4021724 BXGD020734 Cytochrome C oxidase-negative muscle fibers
C4021726 BXGD020735 EMG: myopathic abnormalities Musculoskeletal Diseases; Nervous System Diseases
C4021759 BXGD020762 Generalized myoclonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4024609 BXGD021340 Decreased activity of mitochondrial respiratory chain
C4025097 BXGD021557 Ventilator dependence with inability to wean
C4082299 BXGD022088 Bulbar palsy Nervous System Diseases
C4310734 BXGD022643 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
C4476759 BXGD022861 Stooped posture Nervous System Diseases
C4520981 BXGD023051 Abnormality of the basal ganglia
C4552810 BXGD023525 Irritability, CTCAE
C4552811 BXGD023526 Generalized Muscle Weakness, CTCAE
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000759 Arabinan 243.22
BXGC0030428 Deoxycytidine 227.09
BXGC0049801 Thymidine 242.09
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein