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Gene : DARS2 Homo sapiens

Name  ? aspartyl-tRNA synthetase 2, mitochondrial Cytological Location  1q25.1
Brief Description  aspartyl-tRNA synthetase 2, mitochondrial
Description  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 cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]
  • synonyms:
  • NM_018122,
  • OTTHUMG00000034803,
  • FLJ10514,
  • uc001gjh.3,
  • mtAspRS,
  • mtAspRS,
  • HGNC:25538,
  • DARS2,
  • LBSL,
  • AK022754,
  • ASPRS,
  • aspartate tRNA ligase 2, mitochondrial,
  • MT-ASPRS
  • identifiers:
  • 55157,
  • ENSG00000117593,
  • DARS2

Genome feature

Region: gene ? Length: 33874  
Location: 1:173824673-173858546 Cyto location: 1q25.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

3756 SN Ps

5 Cross References

20 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results