CARS2 (Gene)

Synonyms:CARS2, COXPD27, ENTREZ:79587, HGNC:25695, MIM:612800, NM_001352252, NM_001352253, NM_024537, NP_001339181, NP_001339182, NP_078813, NR_147941, NR_147942, XM_006719953, XM_011521116, XM_011521117, XM_011521118, XM_017020741, XM_017020742, XM_024449409, XP_006720016, XP_011519418, XP_011519419, XP_011519420, XP_016876230, XP_016876231, XP_024305177, XR_001749664, XR_001749665, XR_001749666, XR_001749667, XR_001749668, XR_002957472, XR_243047, XR_243048, XR_243049, XR_243051, cysRS, cysteinyl-tRNA synthetase 2, mitochondrial
Omim:OMIM:612800
Id:ENSG00000134905
Hgnc:HGNC:25695
Entrez:79587
Description:cysteinyl-tRNA synthetase 2, mitochondrial
This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View CARS2's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with CARS2.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using CARS2.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for CARS2.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with CARS2.

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