• Gene id: 79587

Gene Summary

• Gene Symbol: CARS2   Gene   UCSC   Ensembl
• Aliases: COXPD27, cysRS
• Gene name: cysteinyl-tRNA synthetase 2, mitochondrial
• Alternate names: probable cysteine--tRNA ligase, mitochondrial, cysteine tRNA ligase 2, mitochondrial (putative), cysteinyl-tRNA synthetase 2, mitochondrial (putative),
• Gene location: 13q34 (132570321: 132571358)     Exons: 1     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 612800

Protein Summary

• Protein general information: Q9HA77  
  • Name: Probable cysteine tRNA ligase, mitochondrial (EC 6.1.1.16) (Cysteinyl tRNA synthetase) (CysRS)
  • Length: 564  
  • Mass: 62224
• Sequence:

  MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRGRAWLQPTGRETGVQVYNSLTGRKEPLIVAHAEAASW
  YSCGPTVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQD
  MAALKVLPPTVYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRH
  ASDFALWKAAKPQEVFWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWG
  NYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLE
  DARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDAILGLAHHGNGQLRASLKEPEGPRSPAVF
  GAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVRFRQKVRQFALAMPEATGDARRQQLLERQPLLEA
  CDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG

• Structural information:
  • Interpro: IPR015803  IPR024909  IPR014729  IPR032678  IPR009080  
  • CDD: cd00672
  • STRING: ENSP00000257347
• Other Databases: GeneCards:  CARS2  Malacards:  CARS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004817	cysteine-tRNA ligase activity	IBA	molecular function
GO:0006423	cysteinyl-tRNA aminoacylation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005524	ATP binding	IBA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004817	cysteine-tRNA ligase activity	IEA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006423	cysteinyl-tRNA aminoacylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004817	cysteine-tRNA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray