WARS2 - tryptophanyl tRNA synthetase 2, mitochondrial-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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10352 WARS2

基因描述

Type	Description
Definition	tryptophanyl tRNA synthetase 2, mitochondrial

研究结论

Date	Results	Publications
2021-02-13 13:23:00	A lead candidate functional single nucleotide polymorphism within the WARS2 gene associated with waist-hip-ratio does not alter RNA stability.	33007465
2019-09-14 11:27:00	This case expands the phenotypic spectrum of WARS2 deficiency and emphasizes the importance of mitochondrial protein synthesis in the pathogenesis of Parkinsonism.	29120065
2018-11-03 12:19:00	An alternative conformation of human TrpRS suggests a role of zinc in activating non-enzymatic function.	28910573
2018-08-25 12:15:00	The data demonstrate a pro-angiogenic function for Wars2 both within and outside the heart.	27389904
2018-06-23 11:07:00	This confidently implicates that mutations in WARS2 cause mitochondrial disease with a broad spectrum of clinical presentation.	28905505

名称对应

Type	IDs
Synonymous	NEMMLAS, TrpRS
Gene	UniProtKB-ID: SYWM_HUMAN UniprotKB: Q9UGM6 UniParc: UPI000023C3B7, UPI000004A002 EMBL: BC039889, BC044575, AJ242739, AL139420, AK223197, CH471122, AL359823, AL590288, AK313740 Ensembl: ENSG00000116874 KO: hsa:10352
Nucleutide sequences	EMBL-CDS: BAG36481.1, AAH44575.1, EAW56693.1, BAD96917.1, CAB63107.1 Ensembl_TRS: ENST00000369426, ENST00000235521
Protein sequencees	Ensembl_PRO: ENSP00000358434, ENSP00000235521 RefSeq: NP_001365156.1, NP_001365160.1, XP_016855527.1, XP_016855530.1, NP_957715.1, XP_005270407.1, NP_001365157.1, NP_001365158.1, NP_001365159.1, NP_056651.1, XP_024305628.1, NP_001365155.1, XP_024305594.1
Others	UniRef100: UniRef100_Q9UGM6 UniRef90: UniRef90_Q9UGM6 UniRef50: UniRef50_Q9UGM6 UniGene: Hs.523506 CCDS: CCDS900.1, CCDS30817.1

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
33007465	A lead candidate functional single nucleotide polymorphism within the WARS2 gene associated with waist-hip-ratio does not alter RNA stability. Biochim Biophys Acta Gene Regul Mech Milan MuÅ¡o , Rebecca Dumbell , Sara Pulit , Nasa Sinnott-Armstrong , Samantha Laber , Louisa Zolkiewski , Liz Bentley , Melina Claussnitzer , Roger D Cox	2020-11-01	-
32877691	A High-Density Human Mitochondrial Proximity Interaction Network. Cell Metab Hana Antonicka , Zhen-Yuan Lin , Alexandre Janer , Mari J Aaltonen , Woranontee Weraarpachai , Anne-Claude Gingras , Eric A Shoubridge	2020-09-01	-
31056398	Mitochondrial ClpP-Mediated Proteolysis Induces Selective Cancer Cell Lethality. Cancer Cell Jo Ishizawa , Sarah F Zarabi , R Eric Davis , Ondrej Halgas , Takenobu Nii , Yulia Jitkova , Ran Zhao , Jonathan St-Germain , Lauren E Heese , Grace Egan , Vivian R Ruvolo , Samir H Barghout , Yuki Nishida , Rose Hurren , Wencai Ma , Marcela Gronda , Todd Link , Keith Wong , Mark Mabanglo , Kensuke Kojima , Gautam Borthakur , Neil MacLean , Man Chun John Ma , Andrew B Leber , Mark D Minden , Walid Houry , Hagop Kantarjian , Martin Stogniew , Brian Raught , Emil F Pai , Aaron D Schimmer , Michael Andreeff	2019-05-13	-
30033366	Mapping the Genetic Landscape of Human Cells. Cell Max A Horlbeck , Albert Xu , Min Wang , Neal K Bennett , Chong Y Park , Derek Bogdanoff , Britt Adamson , Eric D Chow , Martin Kampmann , Tim R Peterson , Ken Nakamura , Michael A Fischbach , Jonathan S Weissman , Luke A Gilbert	2018-08-09	-
29568061	An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. Nat Commun Xiaonan Liu , Kari Salokas , Fitsum Tamene , Yaming Jiu , Rigbe G Weldatsadik , Tiina Ãhman , Markku Varjosalo	2018-03-22	-
29120065	Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism. Clin Genet E A Burke , S J Frucht , K Thompson , L A Wolfe , T Yokoyama , M Bertoni , Y Huang , M Sincan , D R Adams , R W Taylor , W A Gahl , C Toro , M C V Malicdan	2018-03-01	-
28910573	An alternative conformation of human TrpRS suggests a role of zinc in activating non-enzymatic function. RNA Biol Xiaoling Xu , Huihao Zhou , Quansheng Zhou , Fei Hong , My-Nuong Vo , Wanqiang Niu , Zhiguo Wang , Xiaolin Xiong , Kanaha Nakamura , Keisuke Wakasugi , Paul Schimmel , Xiang-Lei Yang	2018-01-01	-
28905505	Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Hum Mutat Saskia B Wortmann , Sharita Timal , Hanka Venselaar , Liesbeth T Wintjes , Robert Kopajtich , RenÃ© G Feichtinger , Carla Onnekink , Mareike MÃ¼hlmeister , Ulrich Brandt , Jan A Smeitink , Joris A Veltman , Wolfgang Sperl , Dirk Lefeber , Ger Pruijn , Vesna Stojanovic , Peter Freisinger , Francjan V Spronsen , Terry Gj Derks , Hermine E Veenstra-Knol , Johannes A Mayr , Agnes RÃ¶tig , Mark Tarnopolsky , Holger Prokisch , Richard J Rodenburg	2017-12-01	-
28650581	Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy. Am J Med Genet A Benjamin E Theisen , Anastasia Rumyantseva , Julie S Cohen , Wendy A Alcaraz , Deepali N Shinde , Sha Tang , Siddarth Srivastava , Jonathan Pevsner , Aleksandra Trifunovic , Ali Fatemi	2017-09-01	-
28700943	A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Cell Rep Timothy D Martin , Danielle R Cook , Mei Yuk Choi , Mamie Z Li , Kevin M Haigis , Stephen J Elledge	2017-07-11	-

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