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80222 TARS2

80222

TARS2

threonyl-tRNA synthetase 2, mitochondrial

protein-coding

Homo sapiens

基因描述

Type Description
Definition threonyl-tRNA synthetase 2, mitochondrial

研究结论

Date Results Publications
2021-02-06 13:55:00 Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required for Threonine-Sensitive mTORC1 Activation. 33340489
2021-01-09 13:34:00 Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report. 33153448
2016-08-13 10:55:00 Identification of a TARS2 splicing variant in several human cell lines, which encodes a hmtThrRS derivative lacking a peptide covering a portion of both the editing and the aminoacylation domains. 26811336
2015-04-04 11:49:00 TARS2 mutations caused fatal mitochondrial encephalomyopathy in two siblings. 24827421
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624

名称对应

Type IDs
Synonymous COXPD21, TARSL1, thrRS
Gene
UniProtKB-ID: SYTM_HUMAN, U3KQG0_HUMAN
UniprotKB: Q9BW92, U3KQG0
UniParc: UPI000006D02D, UPI0000E1EBE0, UPI00000492D1
EMBL: BC000541, AK022590, BC009997, CH471121, AL356356, BC007824, AK222814
Ensembl: ENSG00000143374
KO: hsa:80222
Nucleutide sequences
EMBL-CDS: BAB14117.1, BAD96534.1, EAW53549.1, AAH00541.1, AAH07824.2, AAH09997.1
Ensembl_TRS: ENST00000369054, ENST00000369064, ENST00000606933
Protein sequencees
Ensembl_PRO: ENSP00000358060, ENSP00000358050, ENSP00000475847
RefSeq: XP_006711618.1, XP_016857884.1, XP_016857883.1, NP_001258824.1, NP_001258825.1, NP_079426.2
Others
UniRef100: UniRef100_U3KQG0, UniRef100_Q9BW92
UniRef90: UniRef90_A0A2K5C4E6, UniRef90_Q9BW92
UniRef50: UniRef50_Q9BW92
UniGene: Hs.288974
CCDS: CCDS952.1, CCDS60252.1

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