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Aliases for DARS2 Gene

Aliases for DARS2 Gene

  • Aspartyl-TRNA Synthetase 2, Mitochondrial 2 3
  • EC 6.1.1.12 4 64
  • ASPRS 3 4
  • Aspartyl-TRNA Synthetase, Mitochondrial 3
  • Aspartate TRNA Ligase 2, Mitochondrial 3
  • Aspartate--TRNA Ligase, Mitochondrial 3
  • Aspartyl-TRNA Synthetase 4
  • Aspartate TRNA Ligase 2 2
  • Mitochondrial 2
  • ASPRS. LBSL 6
  • MT-ASPRS 3
  • EC 6.1.1 64
  • LBSL 3

External Ids for DARS2 Gene

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 leukoencephalopathy with brain stem and spinal cord involvement - high lactate. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include protein homodimerization activity and aspartate-tRNA ligase activity.

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

Genomic Location for DARS2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DARS2 Gene

Regulatory Elements 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
    Secondary Accessions:

    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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys224 and Lys235

Other Protein References for DARS2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for DARS2 Gene

Gene Families for DARS2 Gene

HGNC:
  • aaRS2 :Aminoacyl tRNA synthetases / Class II

UniProtKB/Swiss-Prot:

SYDM_HUMAN
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.:
    • Q6PI48
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 --
GO:0003676 nucleic acid binding --
GO:0004812 aminoacyl-tRNA ligase activity --
GO:0004815 aspartate-tRNA ligase activity TAS --
genes like me logo Genes that share ontologies with DARS2: view
genes like me logo Genes that share phenotypes with DARS2: view

miRNA for DARS2 Gene

No data available for Animal Models , Transcription Factor Targeting 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 4
cytosol 3

Gene Ontology (GO) - Cellular Components for DARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm --
GO:0005739 mitochondrion TAS 15779907
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with DARS2: view

Pathways 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:0006418 tRNA aminoacylation for protein translation TAS --
GO:0010467 gene expression TAS --
GO:0043039 tRNA aminoacylation IDA 15779907
GO:0070145 mitochondrial asparaginyl-tRNA aminoacylation IC 15779907
genes like me logo Genes that share ontologies with DARS2: view

Compounds for DARS2 Gene

(5) HMDB Compounds for DARS2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
L-Aspartic acid
  • (+)-Aspartate
56-84-8
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(1) Drugbank Compounds for DARS2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Aspartic Acid
  • (+)-Aspartic acid
56-84-8 target
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

Integrated Proteomics: protein expression 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 expressions with DARS2: view

Orthologs for DARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DARS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DARS2 36
  • 99.43 (n)
  • 99.22 (a)
DARS2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DARS2 36
  • 89.03 (n)
  • 86.83 (a)
DARS2 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DARS2 36
  • 89.36 (n)
  • 87.01 (a)
DARS2 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dars2 36
  • 84.6 (n)
  • 85.69 (a)
Dars2 16
Dars2 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DARS2 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 58 (a)
OneToMany
-- 37
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dars2 36
  • 84.48 (n)
  • 85.83 (a)
chicken
(Gallus gallus)
Aves DARS2 36
  • 71.85 (n)
  • 73.58 (a)
DARS2 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DARS2 37
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dars2 36
  • 66.78 (n)
  • 67.56 (a)
zebrafish
(Danio rerio)
Actinopterygii dars2 36
  • 64.3 (n)
  • 65.71 (a)
dars2 37
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007844 36
  • 53.1 (n)
  • 51.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31739 36
  • 51.95 (n)
  • 48.39 (a)
CG31739 37
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dars-2 36
  • 52.39 (n)
  • 45.88 (a)
dars-2 37
  • 42 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR206C 36
  • 48.46 (n)
  • 40.51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSD1 36
  • 49.25 (n)
  • 39.55 (a)
MSD1 37
  • 32 (a)
OneToOne
MSD1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E24465g 36
  • 49.42 (n)
  • 41.44 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G33760 36
  • 51.39 (n)
  • 43.55 (a)
rice
(Oryza sativa)
Liliopsida Os.24869 36
Os01g0153400 36
  • 50.89 (n)
  • 39.89 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02585 36
  • 48.41 (n)
  • 39.38 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC736.06 36
  • 49.43 (n)
  • 42.01 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14098 36
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 MAF
rs874342 -- 173,838,962(+) gatct(C/T)ctgac intron-variant
rs874343 -- 173,838,982(+) caccc(A/G)cctcg intron-variant
rs1063282 -- 173,858,423(+) AACTA(A/T)AAAGC utr-variant-3-prime
rs1115487 -- 173,840,376(+) tggga(C/T)tacag intron-variant
rs1321170 -- 173,834,649(+) TTTTT(C/T)TGAAG intron-variant

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

Relevant External Links for DARS2 Gene

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

Disorders for DARS2 Gene

(1) OMIM Diseases for DARS2 Gene (610956)

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.

(3) University of Copenhagen DISEASES for DARS2 Gene

Relevant External Links for DARS2

Genetic Association Database (GAD)
DARS2
Human Genome Epidemiology (HuGE) Navigator
DARS2
genes like me logo Genes that share disorders with DARS2: view

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
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  3. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. (PMID: 17384640) Scheper G.C. … van der Knaap M.S. (Nat. Genet. 2007) 3 4
  4. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PMID: 19209188) Reiling E. … Dekker J.M. (Eur. J. Hum. Genet. 2009) 3 49
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for DARS2 Gene

Sources for DARS2 Gene

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