2. Gene
  3. TK2 - thymidine kinase 2 Gene

TK2 - thymidine kinase 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：胸苷激酶 2

种属: Homo sapiens

同用名: MTTK; PEOB3; SCA31; MTDPS2; TK2-EXT

基因 ID: 7084 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种脱氧核糖核苷激酶，可特异性磷酸化胸苷、脱氧胞苷和脱氧尿苷。编码的酶定位于线粒体，是线粒体 DNA 合成所必需的。该基因的突变与线粒体 DNA 耗竭综合征的肌病形式有关。交替剪接导致编码不同亚型的多个转录变体，其中一些缺乏转运肽，因此不定位于线粒体。[RefSeq 提供，2012 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables deoxycytidine kinase activity IDA
IDA: 通过直接分析推断
9989599 GOA
enables thymidine kinase activity IDA
IDA: 通过直接分析推断
9989599 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in mitochondrion IDA
IDA: 通过直接分析推断
9989599 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TK2 蛋白结构

dNK

dNK: Deoxynucleoside kinase (155 - 297)

  • 0
  • 100
  • 200
  • 307 a.a.
蛋白主名 其他名称

thymidine kinase 2, mitochondrial

thymidine kinase 2

2'-deoxyuridine kinase TK2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (8)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-W008907 5'-O-Tritylthymidine 99.79% 否
HY-128710 2'-Fluorothymidine 99.07% 否
HY-W353804 2′-Deoxy-β-L-uridine 99.96% 否
HY-178442 EGFR-IN-179 Inhibitor / 否
HY-RS14556 TK1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS14557 TK2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS17628 Tk2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24088 Tk2 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
Macaca fascicularis TK2 NCBI NCBI:102139352
Others TK2 NCBI
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