• Gene id: 55699

Gene Summary

• Gene Symbol: IARS2   Gene   UCSC   Ensembl
• Aliases: CAGSSS, ILERS
• Gene name: isoleucyl-tRNA synthetase 2, mitochondrial
• Alternate names: isoleucine--tRNA ligase, mitochondrial, isoleucine tRNA ligase 2, mitochondrial, isoleucine-tRNA synthetase 2, mitochondrial, isoleucyl-tRNA synthetase, mitochondrial, mitochondrial isoleucine tRNA synthetase,
• Gene location: 1q41 (2963505: 2937935)     Exons: 19     NC_000004.12
• Gene summary(Entrez): Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first prot
• OMIM: 612801

Protein Summary

• Protein general information: Q9NSE4  
  • Name: Isoleucine tRNA ligase, mitochondrial (EC 6.1.1.5) (Isoleucyl tRNA synthetase) (IleRS)
  • Length: 1012  
  • Mass: 113792
• Sequence:

  MRWGLRPRGPGAAALATARSLWGTPRLPCSPGWQGATKRLLVRSVSGASNHQPNSNSGRYRDTVLLPQTSFPMKL
  LGRQQPDTELEIQQKCGFSELYSWQRERKVKTEFCLHDGPPYANGDPHVGHALNKILKDIANRFHMMNGSKIHFV
  PGWDCHGLPIEIKVLSELGREAQNLSAMEIRKKARSFAKAAIEKQKSAFIRWGIMADWNNCYYTFDGKYEAKQLR
  TFYQMYDKGLVYRSYKPVFWSPSSRTALAEAELEYNPEHVSRSIYVKFPLLKPSPKLASLIDGSSPVSILVWTTQ
  PWTIPANEAVCYMPESKYAVVKCSKSGDLYVLAADKVASVASTLETTFETISTLSGVDLENGTCSHPLIPDKASP
  LLPANHVTMAKGTGLVHTAPAHGMEDYGVASQHNLPMDCLVDEDGVFTDVAGPELQNKAVLEEGTDVVIKMLQTA
  KNLLKEEKLVHSYPYDWRTKKPVVIRASKQWFINITDIKTAAKELLKKVKFIPGSALNGMVEMMDRRPYWCISRQ
  RVWGVPIPVFHHKTKDEYLINSQTTEHIVKLVEQHGSDIWWTLPPEQLLPKEVLSEVGGPDALEYVPGQDILDIW
  FDSGTSWSYVLPGPDQRADLYLEGKDQLGGWFQSSLLTSVAARKRAPYKTVIVHGFTLGEKGEKMSKSLGNVIHP
  DVVVNGGQDQSKEPPYGADVLRWWVADSNVFTEVAIGPSVLNAARDDISKLRNTLRFLLGNVADFNPETDSIPVN
  DMYVIDQYMLHLLQDLANKITELYKQYDFGKVVRLLRTFYTRELSNFYFSIIKDRLYCEKENDPKRRSCQTALVE
  ILDVIVRSFAPILPHLAEEVFQHIPYIKEPKSVFRTGWISTSSIWKKPGLEEAVESACAMRDSFLGSIPGKNAAE
  YKVITVIEPGLLFEIIEMLQSEETSSTSQLNELMMASESTLLAQEPREMTADVIELKGKFLINLEGGDIREESSY
  KVIVMPTTKEKCPRCWKYTAESSDTLCPRCAEVVSGK

• Structural information:
  • Interpro: IPR001412  IPR002300  IPR033708  IPR002301  IPR023585   IPR013155  IPR014729  IPR009080  IPR009008  IPR010663  
  • Prosite: PS00178
  • CDD: cd07960
  • STRING: ENSP00000355889
• Other Databases: GeneCards:  IARS2  Malacards:  IARS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032543	mitochondrial translation	IBA	biological process
GO:0004822	isoleucine-tRNA ligase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0006428	isoleucyl-tRNA aminoacylation	IBA	biological process
GO:0000049	tRNA binding	IEA	molecular function
GO:0002161	aminoacyl-tRNA editing activity	IEA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004822	isoleucine-tRNA ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006428	isoleucyl-tRNA aminoacylation	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004822	isoleucine-tRNA ligase activity	IEA	molecular function
GO:0004822	isoleucine-tRNA ligase activity	TAS	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0106074	aminoacyl-tRNA metabolism involved in translational fidelity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
CAGSSS syndrome	KEGG:H02232
CAGSSS syndrome	KEGG:H02232
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881