• Gene id: 23438

Gene Summary

• Gene Symbol: HARS2   Gene   UCSC   Ensembl
• Aliases: HARSL, HARSR, HO3, HisRS, PRLTS2
• Gene name: histidyl-tRNA synthetase 2, mitochondrial
• Alternate names: histidine--tRNA ligase, mitochondrial, probable histidine--tRNA ligase, mitochondrial, HARS-related, histidine tRNA ligase 2, mitochondrial (putative), histidine translase, histidine-tRNA ligase homolog, histidyl-tRNA synthetase 2, mitochondrial (putative), hist,
• Gene location: 5q31.3 (31721745: 31718647)     Exons: 3     NC_000006.12
• Gene summary(Entrez): Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-tran
• OMIM: 600783

Protein Summary

• Protein general information: P49590  
  • Name: Histidine tRNA ligase, mitochondrial (EC 6.1.1.21) (Histidine tRNA ligase like) (Histidyl tRNA synthetase) (HisRS)
  • Length: 506  
  • Mass: 56888
  • Tissue specificity: A high level expression is seen in the heart, kidney and skeletal muscle while a lower level expression is seen in the brain and liver.
• Sequence:

  MPLLGLLPRRAWASLLSQLLRPPCASCTGAVRCQSQVAEAVLTSQLKAHQEKPNFIIKTPKGTRDLSPQHMVVRE
  KILDLVISCFKRHGAKGMDTPAFELKETLTEKYGEDSGLMYDLKDQGGELLSLRYDLTVPFARYLAMNKVKKMKR
  YHVGKVWRRESPTIVQGRYREFCQCDFDIAGQFDPMIPDAECLKIMCEILSGLQLGDFLIKVNDRRIVDGMFAVC
  GVPESKFRAICSSIDKLDKMAWKDVRHEMVVKKGLAPEVADRIGDYVQCHGGVSLVEQMFQDPRLSQNKQALEGL
  GDLKLLFEYLTLFGIADKISFDLSLARGLDYYTGVIYEAVLLQTPTQAGEEPLNVGSVAAGGRYDGLVGMFDPKG
  HKVPCVGLSIGVERIFYIVEQRMKTKGEKVRTTETQVFVATPQKNFLQERLKLIAELWDSGIKAEMLYKNNPKLL
  TQLHYCESTGIPLVVIIGEQELKEGVIKIRSVASREEVAIKRENFVAEIQKRLSES

• Structural information:
  • Interpro: IPR006195  IPR004154  IPR036621  IPR015807  IPR041715   IPR004516  IPR033656  
  • Prosite: PS50862
  • CDD: cd00773 cd00859
  • DIP: 59626
  • STRING: ENSP00000230771
• Other Databases: GeneCards:  HARS2  Malacards:  HARS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006427	histidyl-tRNA aminoacylation	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0004821	histidine-tRNA ligase activity	IBA	molecular function
GO:0042802	identical protein binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004821	histidine-tRNA ligase activity	IEA	molecular function
GO:0006427	histidyl-tRNA aminoacylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004821	histidine-tRNA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0004821	histidine-tRNA ligase activity	TAS	molecular function
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004821	histidine-tRNA ligase activity	IDA	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0006427	histidyl-tRNA aminoacylation	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0004821	histidine-tRNA ligase activity	NAS	molecular function
GO:0006412	translation	NAS	biological process
GO:0003723	RNA binding	HDA	molecular function

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
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