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7084 TK2

7084

TK2

thymidine kinase 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition thymidine kinase 2

研究结论

Date Results Publications
2019-10-05 11:10:00 In TK2 deficiency, age at onset, rate of weakness progression and POS are important variables that define three clinical subtypes. Nervous system involvement often complicates the clinical course of the infantile-onset form while extraocular muscle and facial involvement are characteristic of the late-onset form. 29602790
2019-03-16 10:38:00 Thymidine Kinase 2 mutation is associated with myopathic form of mitochondrial DNA maintenance defect. 29735374
2017-09-09 11:26:00 We confirm the pathogenicity of the rare mitochondrial m.8340G>A variant the basis of single-fibre segregation studies and its association with an expanded clinical phenotype. Our case expands the phenotypic spectrum of diseases associated with mitochondrial tRNA point mutations, highlighting the importance of considering a mitochondrial diagnosis. 28729369
2015-08-22 10:40:00 Severe deficiency of thymidine kinase 2 was associated with patients with mild forms of myopathy. 25948719
2015-04-25 11:31:00 Data indicate that the thymidine kinase 2 enzyme kinetics of thymidine (dT) phosphorylation exhibits negative cooperativity, but deoxycytidine (dC) phosphorylation follows hyperbolic Michaelis-Menten kinetics. 25215937

名称对应

Type IDs
Synonymous MTDPS2, MTTK, PEOB3, SCA31
Gene
UniProtKB-ID: KITM_HUMAN, A4IF54_HUMAN, B4E0Z4_HUMAN, B4DIW4_HUMAN, A5PLM0_HUMAN, Q8IZR3_HUMAN
UniprotKB: O00142, A4IF54, B4E0Z4, B4DIW4, A5PLM0, Q8IZR3
UniParc: UPI00000740BF, UPI00017A84AF, UPI0001AE689A, UPI0000E02BCA, UPI00015657B4, UPI0000246D22, UPI00001AECBD, UPI0000EE5A2C, UPI000013E5D6, UPI00017A72B6, UPI0000F6B9C8
EMBL: HQ205383, HQ205351, HQ205360, HQ205381, HQ205366, HQ205377, AK295808, HQ205385, HQ205367, AC010542, HQ205350, HQ205349, Y10498, AF521891, CH471092, HQ205364, HQ205369, HQ205346, HQ205356, BC142970, HQ205382, HQ205368, HQ205347, HQ205380, HQ205384, AK302976, HQ205359, BC134344, HQ205363, HQ205362, HQ205358, HQ205352, AK294627, HQ205371, HQ205361, HQ205376, HQ205348, HQ205357, HQ205375, HQ205372, U77088, HQ205374, HQ205373, HQ205379, HQ205378, HQ205354, AK303590, AK316226, HQ205355, HQ205353, HQ205370, HQ205365
Ensembl: ENSG00000166548
KO: hsa:7084
Nucleutide sequences
EMBL-CDS: BAG64119.1, ADP90826.1, ADP90853.1, ADP90824.1, ADP90832.1, ADP90840.1, ADP90823.1, ADP90851.1, ADP90844.1, ADP90833.1, EAW83017.1, ADP90843.1, ADP90820.1, ADP90822.1, ADP90849.1, ADP90814.1, ADP90836.1, ADP90842.1, ADP90831.1, ADP90845.1, EAW83015.1, ADP90839.1, ADP90848.1, ADP90830.1, ADP90819.1, ADP90847.1, ADP90825.1, ADP90841.1, ADP90838.1, AAC51167.1, ADP90828.1, ADP90835.1, ADP90817.1, ADP90846.1, ADP90829.1, ADP90837.1, BAH14597.1, ADP90852.1, ADP90850.1, ADP90827.1, ADP90815.1, CAA71523.3, BAG57808.1, EAW83013.1, ADP90834.1, ADP90818.1, ADP90816.1, ADP90821.1, AAI34345.1, BAG64606.1, BAG58626.1, AAI42971.1, AAN73847.1
Ensembl_TRS: ENST00000620035, ENST00000527800, ENST00000299697, ENST00000527284, ENST00000544898, ENST00000525974, ENST00000545043, ENST00000563369, ENST00000451102
Protein sequencees
Ensembl_PRO: ENSP00000463560, ENSP00000299697, ENSP00000440898, ENSP00000483833, ENSP00000438143, ENSP00000434594, ENSP00000433770, ENSP00000414334, ENSP00000435312
RefSeq: NP_001166115.1, NP_004605.4, NP_001258979.1, NP_001258864.1, NP_001166116.1, NP_001258863.1, NP_001166114.1
Others
UniRef100: UniRef100_B4DIW4, UniRef100_Q8IZR3, UniRef100_O00142-2, UniRef100_A5PLM0, UniRef100_B4E0Z4, UniRef100_O00142
UniRef90: UniRef90_O00142, UniRef90_O00142-3, UniRef90_A0A2I3GYV5, UniRef90_O00142-2
UniRef50: UniRef50_O00142, UniRef50_O00142-3, UniRef50_O00142-2
UniGene: Hs.512619
CCDS: CCDS54018.1, CCDS54016.1, CCDS10805.2, CCDS61955.1, CCDS54017.1

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