Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79587
Gene name	Cysteinyl-tRNA synthetase 2, mitochondrial
Gene symbol	CARS2
Synonyms (NCBI Gene)	COXPD27cysRS
Chromosome	13
Chromosome location	13q34
Summary	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 like

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs557671802	G>A	Pathogenic	Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs727505361	C>T	Likely-pathogenic, pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs753472937	CTC>-	Pathogenic	5 prime UTR variant, inframe deletion, non coding transcript variant, coding sequence variant
rs1258446331	AA>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1412483498	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, upstream transcript variant, 5 prime UTR variant
rs1555342802	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020814	hsa-miR-155-5p	Proteomics	18668040
MIRT029604	hsa-miR-26b-5p	Microarray	19088304
MIRT047820	hsa-miR-30d-5p	CLASH	23622248

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004817	Function	Cysteine-tRNA ligase activity	IBA
GO:0004817	Function	Cysteine-tRNA ligase activity	IEA
GO:0004817	Function	Cysteine-tRNA ligase activity	IMP	29079736
GO:0005524	Function	ATP binding	IBA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	29079736
GO:0005739	Component	Mitochondrion	IEA
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006423	Process	Cysteinyl-tRNA aminoacylation	IBA
GO:0006423	Process	Cysteinyl-tRNA aminoacylation	IEA
GO:0006423	Process	Cysteinyl-tRNA aminoacylation	IMP	29079736
GO:0016874	Function	Ligase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
612800	25695	ENSG00000134905

Q9HA77

Protein name

Probable cysteine--tRNA ligase, mitochondrial (EC 6.1.1.16) (Cysteinyl-tRNA synthetase) (CysRS)

Protein function

Mitochondrial cysteine-specific aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of cysteine to tRNA(Cys). ; In addition to its role as an aminoacyl-tRNA synthetase, has also cysteine pe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01406	tRNA-synt_1e	65 → 365	tRNA synthetases class I (C) catalytic domain	Family

Sequence

MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRGRAWLQPTGRETGVQVYNSLTG
RKEPLIVAHAEAASWYSCGPTVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITD
VDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPTVYLRVTENIPQIISFIEGII
ARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEV
FWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWG
NYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDYSDSAM
LQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVV
DAILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSE
ATLHGVVDELVRFRQKVRQFALAMPEATGDARRQQLLERQPLLEACDTLRRGLTAHGINI
KDRSSTTSTWELLDQRTKDQKSAG

Sequence length

564

Interactions

View interactions

	KEGG
	Aminoacyl-tRNA biosynthesis

730

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation defect type 27	Pathogenic; Likely pathogenic	rs1555342802, rs1887501594	RCV001199369 RCV001249205

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CARS2-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	rs377120724, rs149601283, rs147216443, rs143638615, rs141349632, rs374859, rs143532600, rs188068027, rs79081036, rs200079151, rs112070421, rs575601185, rs146355429, rs534818713, rs141184379 View all (7 more)	RCV003920873 RCV003956019 RCV003932638 RCV003902607 RCV003970222 RCV003922761 RCV003970219 RCV003902513 RCV003912671 RCV003980028 RCV003935538 RCV003935537 RCV003925717 RCV004758038 RCV003925718 RCV003962602 RCV003952875 RCV003953200 RCV003928417 RCV003925829 RCV003943273 RCV003973158
Cervical cancer	Benign	rs75492117	RCV005918165
Cholangiocarcinoma	Benign	rs75492117	RCV005918168
Clear cell carcinoma of kidney	Benign	rs201758363	RCV005869495
Colon adenocarcinoma	Benign	rs201758363	RCV005869493
Familial cancer of breast	Likely benign; Benign	rs185149092, rs201758363, rs115116722	RCV005916300 RCV005869492 RCV005901063
Gastric cancer	Benign; Likely benign	rs115116722	RCV005901064
Lung cancer	Benign; Uncertain significance	rs75492117, rs9588243, rs372760421	RCV005918169 RCV005904195 RCV005909130
Malignant tumor of esophagus	Likely benign	rs185149092	RCV005916301
Malignant tumor of urinary bladder	Uncertain significance	rs764879319	RCV005932436
Maturity-onset diabetes of the young type 2	Uncertain significance	rs2139765647	RCV004813194
Microcephaly	Uncertain significance	rs1368783369	RCV001252875
Nonpapillary renal cell carcinoma	Uncertain significance	rs749363417	RCV005911011
Papillary renal cell carcinoma type 1	Benign	rs201758363	RCV005869494
Sarcoma	Benign; Likely benign	rs75492117, rs780225759	RCV005918166 RCV005909042
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs759804272, rs201577762	RCV003232993 RCV003232231
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs749363417	RCV005911012
Uterine carcinosarcoma	Likely benign; Benign	rs185149092, rs75492117, rs9588243	RCV005916302 RCV005918167 RCV005904194
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs185149092, rs75492117, rs9588243	RCV005916303 RCV005918170 RCV005904196

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Colorectal Neoplasms	Associate	36299603
Parkinson Disease	Associate	34064523

CARS2 (cysteinyl-tRNA synthetase 2, mitochondrial)