• Gene id: 55157

Gene Summary

• Gene Symbol: DARS2   Gene   UCSC   Ensembl
• Aliases: ASPRS, LBSL, MT-ASPRS, mtAspRS
• Gene name: aspartyl-tRNA synthetase 2, mitochondrial
• Alternate names: aspartate--tRNA ligase, mitochondrial, aspartate tRNA ligase 2, mitochondrial, aspartyl-tRNA synthetase, mitochondrial,
• Gene location: 1q25.1 (61333181: 61353425)     Exons: 22     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal
• OMIM: 610956

Protein Summary

• Protein general information: Q6PI48  
  • Name: Aspartate tRNA ligase, mitochondrial (EC 6.1.1.12) (Aspartyl tRNA synthetase) (AspRS)
  • Length: 645  
  • Mass: 73563
• Sequence:

  MYFPSWLSQLYRGLSRPIRRTTQPIWGSLYRSLLQSSQRRIPEFSSFVVRTNTCGELRSSHLGQEVTLCGWIQYR
  RQNTFLVLRDFDGLVQVIIPQDESAASVKKILCEAPVESVVQVSGTVISRPAGQENPKMPTGEIEIKVKTAELLN
  ACKKLPFEIKNFVKKTEALRLQYRYLDLRSFQMQYNLRLRSQMVMKMREYLCNLHGFVDIETPTLFKRTPGGAKE
  FLVPSREPGKFYSLPQSPQQFKQLLMVGGLDRYFQVARCYRDEGSRPDRQPEFTQIDIEMSFVDQTGIQSLIEGL
  LQYSWPNDKDPVVVPFPTMTFAEVLATYGTDKPDTRFGMKIIDISDVFRNTEIGFLQDALSKPHGTVKAICIPEG
  AKYLKRKDIESIRNFAADHFNQEILPVFLNANRNWNSPVANFIMESQRLELIRLMETQEEDVVLLTAGEHNKACS
  LLGKLRLECADLLETRGVVLRDPTLFSFLWVVDFPLFLPKEENPRELESAHHPFTAPHPSDIHLLYTEPKKARSQ
  HYDLVLNGNEIGGGSIRIHNAELQRYILATLLKEDVKMLSHLLQALDYGAPPHGGIALGLDRLICLVTGSPSIRD
  VIAFPKSFRGHDLMSNTPDSVPPEELKPYHIRVSKPTDSKAERAH

• Structural information:
  • Interpro: IPR004364  IPR006195  IPR004524  IPR002312  IPR004115   IPR029351  IPR012340  IPR004365  
  • Prosite: PS50862
  • PDB: 4AH6
  • PDBsum: 4AH6
  • STRING: ENSP00000355086
• Other Databases: GeneCards:  DARS2  Malacards:  DARS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006412	translation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004815	aspartate-tRNA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000049	tRNA binding	TAS	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0050560	aspartate-tRNA(Asn) ligase activity	IDA	molecular function
GO:0050560	aspartate-tRNA(Asn) ligase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0043039	tRNA aminoacylation	IDA	biological process
GO:0043039	tRNA aminoacylation	IDA	biological process
GO:0070145	mitochondrial asparaginyl-tRNA aminoacylation	IC	biological process
GO:0005739	mitochondrion	TAS	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0004815	aspartate-tRNA ligase activity	IDA	molecular function
GO:0070145	mitochondrial asparaginyl-tRNA aminoacylation	IDA	biological process
GO:0042803	protein homodimerization activity	IPI	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:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	KEGG:H00871
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	KEGG:H00871
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