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] See more...

Aliases for DARS2 Gene

Aliases for DARS2 Gene

  • Aspartyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Aspartate TRNA Ligase 2, Mitochondrial 2 3
  • Aspartate--TRNA Ligase, Mitochondrial 3 4
  • EC 6.1.1.12 4 51
  • MtAspRS 2 3
  • Aspartyl-TRNA Synthetase, Mitochondrial 3
  • Aspartyl-TRNA Synthetase 4
  • MT-ASPRS 3
  • FLJ10514 2
  • EC 6.1.1 51
  • ASPRS 3
  • DARS2 5
  • AspRS 4
  • 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 Brainstem And Spinal Cord Involvement And Lactate Elevation and Gout. Among its related pathways are tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is NARS1.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DARS2 Gene

Genomics for DARS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DARS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DARS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DARS2

Top Transcription factor binding sites by QIAGEN in the DARS2 gene promoter:
  • AML1a
  • AP-4
  • Brachyury
  • c-Myc
  • Max1
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • RelA

Genomic Locations for DARS2 Gene

Genomic Locations for DARS2 Gene
chr1:173,824,653-173,858,808
(GRCh38/hg38)
Size:
34,156 bases
Orientation:
Plus strand
chr1:173,793,641-173,827,684
(GRCh37/hg19)
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

Selected DME Specific Peptides for DARS2 Gene

Q6PI48:
  • FKQLLMV
  • YGTDKPD
  • ETPTLFKRTPGGAKEF
  • SIRDVIAFPK
  • ARCYRDE
  • GKLRLECADLLE
  • YDLVLNG
  • NLRLRSQMVMKMREYLC
  • FYSLPQSPQ
  • KQLLMVGG
  • LMVGGLDRY
  • GAPPHGG
  • VLATYGT
  • YRYLDLR
  • NGNEIGGGS
  • EMSFVDQ
  • HHPFTAP
  • PPHGGIA
  • DIEMSFV
  • GGSIRIH
  • LWVVDFP
  • RQPEFTQ
  • SHLGQEV
  • RDVIAFP
  • GIALGLDR
  • SPSIRDV

Post-translational modifications for DARS2 Gene

  • Ubiquitination at Lys224 and Lys235
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for DARS2

Domains & Families for DARS2 Gene

Gene Families for DARS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for DARS2 Gene

InterPro:
Blocks:
  • Aspartyl-tRNA synthetase signature
  • GAD domain
  • tRNA synthetase, class II (D, K and N)
  • OB-fold nucleic acid binding domain
ProtoNet:

Suggested Antigen Peptide Sequences for DARS2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ12651 fis, clone NT2RM4002062, moderately similar to ASPARTYL-TRNA SYNTHETASE (EC 6.1.1.12) (Q9H9M6_HUMAN)
  • Aspartate--tRNA ligase (SYDM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PI48

UniProtKB/Swiss-Prot:

SYDM_HUMAN :
  • Belongs to the class-II aminoacyl-tRNA synthetase family. Type 1 subfamily.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family. Type 1 subfamily.
genes like me logo Genes that share domains with DARS2: view

Function for DARS2 Gene

Molecular function for DARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp); Xref=Rhea:RHEA:19649, Rhea:RHEA-COMP:9660, Rhea:RHEA-COMP:9678, ChEBI:CHEBI:29991, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:78442, ChEBI:CHEBI:78516, ChEBI:CHEBI:456215; EC=6.1.1.12; Evidence={ECO:0000269|PubMed:15779907, ECO:0000269|PubMed:23275545};.

Enzyme Numbers (IUBMB) for DARS2 Gene

Phenotypes From GWAS Catalog 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:0003676 nucleic acid binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004815 aspartate-tRNA ligase activity IEA,IDA 23275545
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:
  • Dars2 Dars2<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for DARS2 Gene

miRTarBase miRNAs that target DARS2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DARS2 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DARS2 Gene

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

Pathways & Interactions for DARS2 Gene

PathCards logo

SuperPathways 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:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0043039 tRNA aminoacylation IDA 15779907
GO:0070145 mitochondrial asparaginyl-tRNA aminoacylation IDA 23275545
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: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspartic acid Approved Nutra Target 182
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with DARS2: view

Transcripts for DARS2 Gene

mRNA/cDNA for DARS2 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DARS2

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

Expression for DARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for DARS2 Gene



Protein tissue co-expression partners for DARS2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DARS2

SOURCE GeneReport for Unigene cluster for DARS2 Gene:

Hs.647707

Evidence on tissue expression from TISSUES for DARS2 Gene

  • Liver(4.4)
  • Nervous system(3.2)
  • Heart(2.7)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DARS2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • eye
  • head
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with DARS2: view

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
Chimpanzee
(Pan troglodytes)
Mammalia DARS2 30 31
  • 99.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DARS2 30 31
  • 89.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DARS2 30 31
  • 89.03 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dars2 30 17 31
  • 84.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dars2 30
  • 84.48 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia DARS2 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DARS2 30 31
  • 71.85 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DARS2 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dars2 30
  • 66.78 (n)
Zebrafish
(Danio rerio)
Actinopterygii dars2 30 31
  • 64.3 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007844 30
  • 53.1 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31739 30 31
  • 51.95 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea dars-2 30 31
  • 52.39 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E24465g 30
  • 49.42 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSD1 30 31
  • 49.25 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR206C 30
  • 48.46 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G33760 30
  • 51.39 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0153400 30
  • 50.89 (n)
Os.24869 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC736.06 30
  • 49.43 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02585 30
  • 48.41 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14098 30
Species where no ortholog for DARS2 was found in the sources mined by GeneCards:
  • 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 Squirt (Ciona savignyi)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DARS2: view image

Paralogs for DARS2 Gene

Paralogs for DARS2 Gene

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

Variants for DARS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DARS2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
669478 Benign: not provided 173,825,659(+) C/T INTRON_VARIANT
669479 Benign: not provided 173,853,083(+) A/G INTRON_VARIANT
671620 Benign: not provided 173,845,120(+) T/C INTRON_VARIANT
672595 Likely Benign: not provided 173,825,528(+) G/T INTRON_VARIANT
673473 Benign: not provided 173,841,101(+) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for DARS2 Gene

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

Variant ID Type Subtype PubMed ID
esv2758978 CNV loss 17122850
esv3587949 CNV loss 21293372
nsv831926 CNV gain+loss 17160897

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)

Additional Variant Information for DARS2 Gene

Human Gene Mutation Database (HGMD)
DARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DARS2

SNP Genotyping and Copy Number Assay Products

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

Disorders for DARS2 Gene

MalaCards: The human disease database

(35) MalaCards diseases for DARS2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for DARS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  2. Thermodynamic properties distinguish human mitochondrial aspartyl-tRNA synthetase from bacterial homolog with same 3D architecture. (PMID: 23275545) Neuenfeldt A … Florentz C (Nucleic acids research 2013) 3 4
  3. DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. (PMID: 19592391) Isohanni P … Suomalainen A (Journal of medical genetics 2010) 3 23
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PMID: 19209188) Reiling E … Dekker JM (European journal of human genetics : EJHG 2009) 3 41

Products for DARS2 Gene

  • Signalway ELISA kits for DARS2

Sources for DARS2 Gene