TK2 - thymidine kinase 2 Gene

Homo sapiens

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

Gene ID: 7084 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (4)

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-RS14557	TK2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-W353804	2′-Deoxy-β-L-uridine		/	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

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