• Gene id: 23395

Gene Summary

• Gene Symbol: LARS2   Gene   UCSC   Ensembl
• Aliases: HLASA, LEURS, PRLTS4, mtLeuRS
• Gene name: leucyl-tRNA synthetase 2, mitochondrial
• Alternate names: probable leucine--tRNA ligase, mitochondrial, leucine tRNA ligase 2, mitochondrial, leucine tRNA ligase 2, mitocondrial, leucine translase, probable leucyl-tRNA synthetase, mitochondrial,
• Gene location: 3p21.31 (45388563: 45549406)     Exons: 23     NC_000003.12
• Gene summary(Entrez): This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided b
• OMIM: 612342

Protein Summary

• Protein general information: Q15031  
  • Name: Probable leucine tRNA ligase, mitochondrial (EC 6.1.1.4) (Leucyl tRNA synthetase) (LeuRS)
  • Length: 903  
  • Mass: 101976
  • Tissue specificity: Ubiquitously expressed, but highest expression in tissues with high metabolic rates, such as skeletal muscle, heart, and kidney. {ECO
• Sequence:

  MASVWQRLGFYASLLKRQLNGGPDVIKWERRVIPGCTRSIYSATGKWTKEYTLQTRKDVEKWWHQRIKEQASKIS
  EADKSKPKFYVLSMFPYPSGKLHMGHVRVYTISDTIARFQKMRGMQVINPMGWDAFGLPAENAAVERNLHPQSWT
  QSNIKHMRKQLDRLGLCFSWDREITTCLPDYYKWTQYLFIKLYEAGLAYQKEALVNWDPVDQTVLANEQVDEHGC
  SWRSGAKVEQKYLRQWFIKTTAYAKAMQDALADLPEWYGIKGMQAHWIGDCVGCHLDFTLKVHGQATGEKLTAYT
  ATPEAIYGTSHVAISPSHRLLHGHSSLKEALRMALVPGKDCLTPVMAVNMLTQQEVPVVILAKADLEGSLDSKIG
  IPSTSSEDTILAQTLGLAYSEVIETLPDGTERLSSSAEFTGMTRQDAFLALTQKARGKRVGGDVTSDKLKDWLIS
  RQRYWGTPIPIVHCPVCGPTPVPLEDLPVTLPNIASFTGKGGPPLAMASEWVNCSCPRCKGAAKRETDTMDTFVD
  SAWYYFRYTDPHNPHSPFNTAVADYWMPVDLYIGGKEHAVMHLFYARFFSHFCHDQKMVKHREPFHKLLAQGLIK
  GQTFRLPSGQYLQREEVDLTGSVPVHAKTKEKLEVTWEKMSKSKHNGVDPEEVVEQYGIDTIRLYILFAAPPEKD
  ILWDVKTDALPGVLRWQQRLWTLTTRFIEARASGKSPQPQLLSNKEKAEARKLWEYKNSVISQVTTHFTEDFSLN
  SAISQLMGLSNALSQASQSVILHSPEFEDALCALMVMAAPLAPHVTSEIWAGLALVPRKLCAHYTWDASVLLQAW
  PAVDPEFLQQPEVVQMAVLINNKACGKIPVPQQVARDQDKVHEFVLQSELGVRLLQGRSIKKSFLSPRTALINFL
  VQD

• Structural information:
  • Interpro: IPR001412  IPR002300  IPR002302  IPR013155  IPR014729   IPR009080  IPR009008  
  • Prosite: PS00178
  • STRING: ENSP00000408576
• Other Databases: GeneCards:  LARS2  Malacards:  LARS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004823	leucine-tRNA ligase activity	IBA	molecular function
GO:0032543	mitochondrial translation	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0006429	leucyl-tRNA aminoacylation	IBA	biological process
GO:0004823	leucine-tRNA ligase activity	IDA	molecular function
GO:0002161	aminoacyl-tRNA editing activity	IEA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004823	leucine-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:0006429	leucyl-tRNA aminoacylation	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004823	leucine-tRNA ligase activity	IEA	molecular function
GO:0006429	leucyl-tRNA aminoacylation	IDA	biological process
GO:0004823	leucine-tRNA ligase activity	IDA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0004823	leucine-tRNA ligase activity	TAS	molecular function
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	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
Perrault syndrome	KEGG:H02095
Perrault syndrome	KEGG:H02095
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq