• Gene id: 79731

Gene Summary

• Gene Symbol: NARS2   Gene   UCSC   Ensembl
• Aliases: DFNB94, SLM5, asnRS
• Gene name: asparaginyl-tRNA synthetase 2, mitochondrial
• Alternate names: probable asparagine--tRNA ligase, mitochondrial, asparagine tRNA ligase 2, mitochondrial (putative), asparaginyl-tRNA synthetase 2, mitochondrial (putative), deafness, autosomal recessive 94, probable asparaginyl-tRNA synthetase, mitochondrial,
• Gene location: 11q14.1 (78574863: 78435960)     Exons: 17     NC_000011.10
• Gene summary(Entrez): This gene encodes a putative member of the class II 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 lik
• OMIM: 600433

Protein Summary

• Protein general information: Q96I59  
  • Name: Probable asparagine tRNA ligase, mitochondrial (EC 6.1.1.22) (Asparaginyl tRNA synthetase) (AsnRS)
  • Length: 477  
  • Mass: 54090
• Sequence:

  MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLHVNDGSSLESLQV
  VADSGLDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTN
  VLGSILRIRSEATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEPSGKLKVPEENFFNVPAFLTVSGQLHL
  EVMSGAFTQVFTFGPTFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHK
  FIAPGQKDRLEHMLKNNFLIISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKP
  FYMRDNEDGPQHTVAAVDLLVPGVGELFGGGLREERYHFLEERLARSGLTEVYQWYLDLRRFGSVPHGGFGMGFE
  RYLQCILGVDNIKDVIPFPRFPHSCLL

• Structural information:
  • Interpro: IPR004364  IPR006195  IPR004522  IPR002312  IPR012340   IPR004365  
  • Prosite: PS50862
  • STRING: ENSP00000281038
• Other Databases: GeneCards:  NARS2  Malacards:  NARS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IDA	cellular component
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004816	asparagine-tRNA ligase activity	IEA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0006421	asparaginyl-tRNA aminoacylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004816	asparagine-tRNA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006421	asparaginyl-tRNA aminoacylation	ISS	biological process
GO:0004816	asparagine-tRNA ligase activity	ISS	molecular function
GO:0005739	mitochondrion	ISS	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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881