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Aliases for DARS2 Gene

Aliases for DARS2 Gene

  • Aspartyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • EC 6.1.1.12 4 63
  • AspRS 3 4
  • Aspartyl-TRNA Synthetase, Mitochondrial 3
  • Aspartate TRNA Ligase 2, Mitochondrial 3
  • Aspartyl-TRNA Synthetase 4
  • Aspartate TRNA Ligase 2 2
  • Mitochondrial 2
  • MT-ASPRS 3
  • EC 6.1.1 63
  • LBSL 3

External Ids for DARS2 Gene

Previous GeneCards Identifiers for DARS2 Gene

  • GC01P170526
  • GC01P172060
  • GC01P173793
  • GC01P145019

Summaries for DARS2 Gene

Entrez Gene Summary for DARS2 Gene

  • 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]

GeneCards Summary for DARS2 Gene

DARS2 (Aspartyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with DARS2 include leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation and episodic ataxia. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include nucleic acid binding and nucleotide binding.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DARS2 Gene

Genomics for DARS2 Gene

Regulatory Elements for DARS2 Gene

Promoters for DARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DARS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DARS2 Gene

Chromosome:
1
Start:
173,824,503 bp from pter
End:
173,858,546 bp from pter
Size:
34,044 bases
Orientation:
Plus strand

Genomic View for DARS2 Gene

Genes around DARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DARS2 Gene

Proteins for DARS2 Gene

  • Protein details for DARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PI48-SYDM_HUMAN
    Recommended name:
    Aspartate--tRNA ligase, mitochondrial
    Protein Accession:
    Q6PI48

    Protein attributes for DARS2 Gene

    Size:
    645 amino acids
    Molecular mass:
    73563 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for DARS2 Gene

neXtProt entry for DARS2 Gene

Proteomics data for DARS2 Gene at MOPED

Post-translational modifications for DARS2 Gene

  • Ubiquitination at Lys 224 and Lys 235
  • Modification sites at PhosphoSitePlus

Other Protein References for DARS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for DARS2 Gene

Gene Families for DARS2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6PI48

UniProtKB/Swiss-Prot:

SYDM_HUMAN :
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with DARS2: view

Function for DARS2 Gene

Molecular function for DARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp).

Enzyme Numbers (IUBMB) for DARS2 Gene

Gene Ontology (GO) - Molecular Function for DARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding TAS 15779907
GO:0000166 nucleotide binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004815 aspartate-tRNA ligase activity TAS --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with DARS2: view

Phenotypes for DARS2 Gene

genes like me logo Genes that share phenotypes with DARS2: view

Human Phenotype Ontology for DARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DARS2 Gene

MGI Knock Outs for DARS2:

Animal Model Products

miRNA for DARS2 Gene

miRTarBase miRNAs that target DARS2

No data available for Transcription Factor Targets and HOMER Transcription for DARS2 Gene

Localization for DARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DARS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DARS2 Gene COMPARTMENTS Subcellular localization image for DARS2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for DARS2 Gene

Pathways & Interactions for DARS2 Gene

genes like me logo Genes that share pathways with DARS2: view

Pathways by source for DARS2 Gene

1 KEGG pathway for DARS2 Gene

Gene Ontology (GO) - Biological Process for DARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043039 tRNA aminoacylation IDA 15779907
genes like me logo Genes that share ontologies with DARS2: view

No data available for SIGNOR curated interactions for DARS2 Gene

Drugs & Compounds for DARS2 Gene

(4) Drugs for DARS2 Gene - From: HMDB and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target NMDA agonist 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for DARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with DARS2: view

Transcripts for DARS2 Gene

Unigene Clusters for DARS2 Gene

Aspartyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DARS2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b
SP1:
SP2: - -
SP3: -
SP4: -
SP5: - - -

Relevant External Links for DARS2 Gene

GeneLoc Exon Structure for
DARS2
ECgene alternative splicing isoforms for
DARS2

Expression for DARS2 Gene

mRNA expression in normal human tissues for DARS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DARS2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DARS2 Gene



SOURCE GeneReport for Unigene cluster for DARS2 Gene Hs.647707

genes like me logo Genes that share expression patterns with DARS2: view

Protein tissue co-expression partners for DARS2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DARS2 Gene

Orthologs for DARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DARS2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DARS2 35
  • 89.03 (n)
  • 86.83 (a)
DARS2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DARS2 35
  • 89.36 (n)
  • 87.01 (a)
DARS2 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dars2 35
  • 84.6 (n)
  • 85.69 (a)
Dars2 16
Dars2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DARS2 35
  • 99.43 (n)
  • 99.22 (a)
DARS2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dars2 35
  • 84.48 (n)
  • 85.83 (a)
oppossum
(Monodelphis domestica)
Mammalia DARS2 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves DARS2 35
  • 71.85 (n)
  • 73.58 (a)
DARS2 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DARS2 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dars2 35
  • 66.78 (n)
  • 67.56 (a)
zebrafish
(Danio rerio)
Actinopterygii dars2 35
  • 64.3 (n)
  • 65.71 (a)
dars2 36
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007844 35
  • 53.1 (n)
  • 51.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31739 35
  • 51.95 (n)
  • 48.39 (a)
CG31739 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dars-2 35
  • 52.39 (n)
  • 45.88 (a)
dars-2 36
  • 42 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR206C 35
  • 48.46 (n)
  • 40.51 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E24465g 35
  • 49.42 (n)
  • 41.44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSD1 35
  • 49.25 (n)
  • 39.55 (a)
MSD1 36
  • 32 (a)
OneToOne
MSD1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G33760 35
  • 51.39 (n)
  • 43.55 (a)
rice
(Oryza sativa)
Liliopsida Os.24869 35
Os01g0153400 35
  • 50.89 (n)
  • 39.89 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14098 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02585 35
  • 48.41 (n)
  • 39.38 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC736.06 35
  • 49.43 (n)
  • 42.01 (a)
Species with no ortholog for DARS2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DARS2 Gene

ENSEMBL:
Gene Tree for DARS2 (if available)
TreeFam:
Gene Tree for DARS2 (if available)

Paralogs for DARS2 Gene

No data available for Paralogs for DARS2 Gene

Variants for DARS2 Gene

Sequence variations from dbSNP and Humsavar for DARS2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_027612 -
rs35515638 - 173,833,470(+) CATGA(A/G)AATGC reference, missense
VAR_037015 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
VAR_037016 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
VAR_037017 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)

Structural Variations from Database of Genomic Variants (DGV) for DARS2 Gene

Variant ID Type Subtype PubMed ID
nsv831926 CNV Gain+Loss 17160897
dgv149e1 CNV Complex 17122850

Variation tolerance for DARS2 Gene

Residual Variation Intolerance Score: 9.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.94; 59.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DARS2 Gene

HapMap Linkage Disequilibrium report
DARS2
Human Gene Mutation Database (HGMD)
DARS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DARS2 Gene

Disorders for DARS2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DARS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
  • lbsl
episodic ataxia
  • isaacs syndrome
autosomal recessive disease
merrf syndrome
  • fukuhara syndrome
melas syndrome
  • mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
- elite association - COSMIC cancer census association via MalaCards
Search DARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYDM_HUMAN
  • Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]: Autosomal recessive disease and is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. {ECO:0000269 PubMed:17384640}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DARS2

Genetic Association Database (GAD)
DARS2
Human Genome Epidemiology (HuGE) Navigator
DARS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DARS2
genes like me logo Genes that share disorders with DARS2: view

No data available for Genatlas for DARS2 Gene

Publications for DARS2 Gene

  1. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. (PMID: 15779907) Bonnefond L. … Sissler M. (Biochemistry 2005) 2 3 4 67
  2. DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. (PMID: 19592391) Isohanni P. … Suomalainen A. (J. Med. Genet. 2010) 3 23
  3. Loss of a primordial identity element for a mammalian mitochondrial aminoacylation system. (PMID: 16597625) Fender A. … Sissler M. (J. Biol. Chem. 2006) 25 26
  4. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  5. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26

Products for DARS2 Gene

Sources for DARS2 Gene

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