• Gene id: 57038

Gene Summary

• Gene Symbol: RARS2   Gene   UCSC   Ensembl
• Aliases: ArgRS, DALRD2, PCH6, PRO1992, RARSL
• Gene name: arginyl-tRNA synthetase 2, mitochondrial
• Alternate names: probable arginine--tRNA ligase, mitochondrial, probable arginyl-tRNA synthetase, mitochondrial,
• Gene location: 6q15 (87590031: 87513934)     Exons: 26     NC_000006.12
• Gene summary(Entrez): This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocereb
• OMIM: 611524

Protein Summary

• Protein general information: Q5T160  
  • Name: Probable arginine tRNA ligase, mitochondrial (EC 6.1.1.19) (Arginyl tRNA synthetase) (ArgRS)
  • Length: 578  
  • Mass: 65505
• Sequence:

  MACGFRRAIACQLSRVLNLPPENLITSISAVPISQKEEVADFQLSVDSLLEKDNDHSRPDIQVQAKRLAEKLRCD
  TVVSEISTGQRTVNFKINRELLTKTVLQQVIEDGSKYGLKSELFSGLPQKKIVVEFSSPNVAKKFHVGHLRSTII
  GNFIANLKEALGHQVIRINYLGDWGMQFGLLGTGFQLFGYEEKLQSNPLQHLFEVYVQVNKEAADDKSVAKAAQE
  FFQRLELGDVQALSLWQKFRDLSIEEYIRVYKRLGVYFDEYSGESFYREKSQEVLKLLESKGLLLKTIKGTAVVD
  LSGNGDPSSICTVMRSDGTSLYATRDLAAAIDRMDKYNFDTMIYVTDKGQKKHFQQVFQMLKIMGYDWAERCQHV
  PFGVVQGMKTRRGDVTFLEDVLNEIQLRMLQNMASIKTTKELKNPQETAERVGLAALIIQDFKGLLLSDYKFSWD
  RVFQSRGDTGVFLQYTHARLHSLEETFGCGYLNDFNTACLQEPQSVSILQHLLRFDEVLYKSSQDFQPRHIVSYL
  LTLSHLAAVAHKTLQIKDSPPEVAGARLHLFKAVRSVLANGMKLLGITPVCRM

• Structural information:
  • Interpro: IPR001412  IPR001278  IPR036695  IPR035684  IPR008909   IPR014729  IPR009080  
  • Prosite: PS00178
  • CDD: cd00671
  • STRING: ENSP00000358549
• Other Databases: GeneCards:  RARS2  Malacards:  RARS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0006420	arginyl-tRNA aminoacylation	IBA	biological process
GO:0004814	arginine-tRNA ligase activity	IBA	molecular function
GO:0032543	mitochondrial translation	IBA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004814	arginine-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:0005737	cytoplasm	IEA	cellular component
GO:0006420	arginyl-tRNA aminoacylation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0004814	arginine-tRNA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0004814	arginine-tRNA ligase activity	TAS	molecular function
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Pontocerebellar hypoplasia	KEGG:H00897
Pontocerebellar hypoplasia	KEGG:H00897
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)