TK2 - thymidine kinase 2 Gene

Also Known as MTTK; PEOB3; SCA31; MTDPS2; TK2-EXT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7084

About TK2

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:66,508,003-66,550,291 (from NCBI)

This gene has 55 transcripts (splice variants), 207 orthologues, 3 paralogues and is associated with 5 phenotypes. Ubiquitous expression in fat (RPKM 14.4), testis (RPKM 9.6) and 25 other tissues.

Summary

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 associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]

TK2 Products (7)

mRNA	Protein	Name
NM_001172643.1	NP_001166114.1	thymidine kinase 2 isoform 2
NM_001172644.2	NP_001166115.1	thymidine kinase 2, mitochondrial isoform 3 precursor
NM_001172645.2	NP_001166116.1	thymidine kinase 2, mitochondrial isoform 4 precursor
NM_001271934.2	NP_001258863.1	thymidine kinase 2 isoform 5
NM_001271935.1	NP_001258864.1	thymidine kinase 2 isoform 6
NM_001272050.2	NP_001258979.1	thymidine kinase 2, mitochondrial isoform 7 precursor
NM_004614.5	NP_004605.4	thymidine kinase 2, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables deoxycytidine kinase activity	IDA IDA: Inferred from direct assay	9989599	GOA
enables thymidine kinase activity	IDA IDA: Inferred from direct assay	9989599	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in mitochondrion	IDA IDA: Inferred from direct assay	9989599	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TK2 Protein Structure

dNK

0
100
200
307 a.a.

Protein Preferred Names	Protein Names
thymidine kinase 2, mitochondrial thymidine kinase 2	2'-deoxyuridine kinase TK2

Protein Preferred Names

Protein Names

thymidine kinase 2, mitochondrial

thymidine kinase 2

2'-deoxyuridine kinase TK2

Related Diseases

Diseases	Alias
Mitochondrial Dna Depletion Syndrome 2	Mitochondrial Dna Depletion Syndrome, Myopathic Form MTDPS2 Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form Mitochondrial Dna Depletion Myopathy, Tk2-Related Tk2-Related Mitochondrial Dna Depletion Myopathy Mtdna Depletion Syndrome, Myopathic Form Mitochondrial Dna Depletion Myopathy Tk2-Related Mitochondrial Dna Depletion Syndrome 2 Myopathic Type Myopathic Mitochondrial Dna Depletion Syndrome Mitochondrial Dna Depletion Syndrome, Type 2
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	PEOB3 Progressive External Ophthalmoplegia, Autosomal Recessive 3 Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 3 Autosomal Recessive Progressive External Ophthalmoplegia 3
Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	PEOB1 Autosomal Recessive Progressive External Ophthalmoplegia Progressive External Ophthalmoplegia, Autosomal Recessive 1 Arpeo Chronic Progressive External Ophthalmoplegia Autosomal Recessive Progressive External Ophthalmoplegia 1 Cerebellar Ataxia Infantile With Progressive External Ophthalmoplegia Progressive External Ophthalmoplegia With Cerebellar Ataxia Infantile Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive, 1 Cpeo Graefe Disease Mitochondrial Ocular Myopathy Ocular Myopathy Of Von Graefe-Fuchs Progressive External Ophthalmoplegia Autosomal Recessive Progressive External Ophthalmoplegia, Autosomal Recessive Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Recessive, Type 1 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive Kearns-Sayre Syndrome
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Spinocerebellar Ataxia 31	Spinocerebellar Ataxia Type 31 SCA31 Spinocerebellar Ataxia 16q22-Linked Spinocerebellar Ataxia, 16q22-Linked Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Ataxia, Spinocerebellar, Type 31
Coenzyme Q10 Deficiency Disease	Coenzyme Q10 Deficiency Coq10 Deficiency Primary Coenzyme Q10 Deficiency Coenzyme Q Deficiency Coq Deficiency Primary Coq10 Deficiency Ubiquinone Deficiency Coenzyme Q10 Deficiency, Primary Coq10 Deficiency, Primary
Myopathy	Muscular Diseases Myopathies
Spinocerebellar Ataxia, X-Linked 3	Scax3 X-Linked Spinocerebellar Ataxia 3 X-Linked Ataxia-Deafness Syndrome X-Linked Spinocerebellar Ataxia Type 3 Ataxia-Deafness Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 3 Ataxia-Deafness Syndrome X-Linked X-Linked Ataxia-Hearing Loss Syndrome Spinocerebellar Ataxia, X-Linked, 3
Spinocerebellar Ataxia, X-Linked 4	Scax4 X-Linked Spinocerebellar Ataxia 4 X-Linked Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia Type 4 Ataxia-Dementia Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 4 Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia, X-Linked, 4
Spinocerebellar Ataxia 30	Spinocerebellar Ataxia Type 30 SCA30 Cerebellar Ataxia Early-Onset Nonprogressive Spinocerebellar Ataxia 29 Acv Aplasia Of Cerebellar Vermis Cerebellar Vermis Aplasia Congenital Nonprogressive Spinocerebellar Ataxia Sca29 Spinocerebellar Ataxia Type 29
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Spinocerebellar Ataxia, X-Linked 2	Scax2 X-Linked Spinocerebellar Ataxia 2 Cerebellar Ataxia With Extrapyramidal Involvement Early-Onset Cerebellar Ataxia With Extrapyramidal Involvement, Early-Onset Spinocerebellar Ataxia X-Linked Type 2
Spinocerebellar Ataxia 26	Spinocerebellar Ataxia Type 26 SCA26 Ataxia, Spinocerebellar, Type 26
Mitochondrial Dna Depletion Syndrome 3	Deoxyguanosine Kinase Deficiency Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form MTDPS3 Dguok Deficiency Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Dguok-Related Mitochondrial Dna Depletion Syndrome Hepatocerebral Mitochondrial Dna Depletion Syndrome Mtdna Depletion Syndrome, Hepatocerebral Form Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type Mitochondrial Dna Depletion Syndrome , Type 3
Cataract 21, Multiple Types	Cataract 21 Multiple Types CTRCT21 Cca4 Cataract 21, Multiple Types, With Or Without Microcornea Cataract, Pulverulent, Juvenile-Onset Congenital Cataract Cerulean Type 4 Cataract, Congenital, Cerulean Type, 4 Cataract 21 Multiple Types With Or Without Microcornea Cataract, Pulverulent Or Cerulean, With Or Without Microcornea Cataract Pulverulent Juvenile-Onset Congenital Cataract Blue Dot Type 4 Cataract, Type 21, Multiple Types
Myoclonic Cerebellar Dyssynergia	Dyssynergia Cerebellaris Myoclonica Progressive Cerebellar Tremor Dentate Cerebellar Ataxia Dentatorubral Atrophy Dyssynergia Cerebellaris Progressiva Myoclonus And Ataxia Primary Dentatum Atrophy Progressive Myoclonus Ataxia Ramsay Hunt Cerebellar Syndrome Ramsay Hunt Syndrome Type 1
Spinocerebellar Ataxia 36	Spinocerebellar Ataxia Type 36 SCA36 Asidan Ataxia Costa De Morte Ataxia Asidan Ataxia, Spinocerebellar, Type 36
Spinocerebellar Ataxia, X-Linked 5	SCAX5 X-Linked Spinocerebellar Ataxia 5 X-Linked Non Progressive Cerebellar Ataxia
Spinocerebellar Ataxia 37	Spinocerebellar Ataxia Type 37 SCA37 Spinocerebellar Ataxia With Altered Vertical Eye Movements
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Merrf Syndrome MERRF Fukuhara Syndrome Myoclonic Epilepsy Associated With Ragged Red Fibers Myoencephalopathy Ragged-Red Fiber Disease Myoclonic Epilepsy - Ragged Red Fibers Myoclonus Epilepsy And Ragged Red Fibers Myoclonus With Epilepsy And With Ragged Red Fibers Myoclonic Epilepsy With Ragged Red Fibers Myoclonic Epilepsy With Ragged-Red Fibers Fukuhara Disease Myoclonus Epilepsy Associated With Ragged-Red Fibres Myoclonus With Epilepsy With Ragged Red Fibers
Mitochondrial Complex Ii Deficiency	Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency Isolated Succinate-Coenzyme Q Reductase Deficiency Isolated Succinate-Coq Reductase Deficiency Isolated Succinate-Ubiquinone Reductase Deficiency Mitochondrial Respiratory Chain Complex Ii Deficiency Complex 2 Mitochondrial Respiratory Chain Deficiency Succinate Coq Reductase Deficiency Succinate Dehydrogenase Deficiency Isolated Succinate Dehydrogenase Deficiency Succinate-Coenzyme Q Reductase Deficiency
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W008907	5'-O-Tritylthymidine	Inducer	99.79%	Unkown
HY-128710	2'-Fluorothymidine		99.07%	Unkown
HY-W353804	2′-Deoxy-β-L-uridine		99.96%	Unkown
HY-RS14556	TK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14557	TK2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-128710R	2'-Fluorothymidine (Standard)		/	Unkown
HY-RS17628	Tk2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24088	Tk2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TK2	RGD	RGD:1309279
Felis catus	TK2	VGNC	VGNC:97660
Bos taurus	TK2	VGNC	VGNC:103723
Mus musculus	TK2	MGD	MGI:1913266
Canis familiaris	TK2	VGNC	VGNC:59034
Macaca mulatta	TK2	VGNC	VGNC:97836
Others	TK2	NCBI