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Aliases for DARS2 Gene

Aliases for DARS2 Gene

  • Aspartyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Aspartate TRNA Ligase 2, Mitochondrial 2 3
  • EC 6.1.1.12 4 61
  • AspRS 3 4
  • Aspartyl-TRNA Synthetase, Mitochondrial 3
  • Aspartate--TRNA Ligase, Mitochondrial 3
  • Aspartyl-TRNA Synthetase 4
  • MT-ASPRS 3
  • EC 6.1.1 61
  • 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 tRNA Aminoacylation and Gene Expression. 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

Enhancers for DARS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F173861 1.2 ENCODE 30.4 +42.3 42257 10.3 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 TBX21 DARS2 GAS5-AS1 KLHL20 ANKRD45 GAS5 LOC730159 RC3H1 CENPL RNA5SP67 SERPINC1
GH01F173823 1.2 ENCODE 27.4 +0.0 32 3.0 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 KLHL20 DARS2 RC3H1 GAS5 GAS5-AS1 CENPL
GH01F173714 1.2 ENCODE 18 -109.1 -109105 2.2 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 RC3H1 KLHL20 DARS2 ANKRD45 RPS27P7
GH01F173852 0.6 ENCODE 32.7 +28.5 28540 1.9 ZNF512 JUN IKZF1 MAFK NR2F2 DARS2 CENPL GAS5 GC01P173858
GH01F173409 1.5 FANTOM5 Ensembl ENCODE 10.9 -411.7 -411700 7.6 HDGF TBP PKNOX1 ATF1 TBL1XR1 WRNIP1 SIN3A GATA2 EGR1 ETV6 KLHL20 CENPL DARS2 PRDX6 ENSG00000224228 TNFSF4 GC01M173428 LOC646870
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DARS2 on UCSC Golden Path with GeneCards custom track

Promoters for DARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001526169 97 3201 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143

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

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 Lys 224 and Lys 235
  • Modification sites at PhosphoSitePlus

Other Protein References for DARS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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. 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:
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:0003676 nucleic acid binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004815 aspartate-tRNA ligase activity TAS --
genes like me logo Genes that share ontologies with DARS2: view

Phenotypes for DARS2 Gene

MGI mutant phenotypes for DARS2:
inferred from 1 alleles
GenomeRNAi human phenotypes for DARS2:
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 5
cytosol 1

Gene Ontology (GO) - Cellular Components for DARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus 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

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:0002250 adaptive immune response IEA --
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation 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
L-Aspartic acid Approved Nutra Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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, PaxDb, MaxQB, and MOPED for DARS2 Gene



Protein tissue co-expression partners for DARS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DARS2 Gene:

DARS2

SOURCE GeneReport for Unigene cluster for DARS2 Gene:

Hs.647707
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 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia DARS2 34 35
  • 89.36 (n)
cow
(Bos Taurus)
Mammalia DARS2 34 35
  • 89.03 (n)
mouse
(Mus musculus)
Mammalia Dars2 34 16 35
  • 84.6 (n)
rat
(Rattus norvegicus)
Mammalia Dars2 34
  • 84.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 76 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DARS2 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves DARS2 34 35
  • 71.85 (n)
lizard
(Anolis carolinensis)
Reptilia DARS2 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dars2 34
  • 66.78 (n)
zebrafish
(Danio rerio)
Actinopterygii dars2 34 35
  • 64.3 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007844 34
  • 53.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31739 34 35
  • 51.95 (n)
worm
(Caenorhabditis elegans)
Secernentea dars-2 34 35
  • 52.39 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E24465g 34
  • 49.42 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSD1 37 35 34
  • 49.25 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR206C 34
  • 48.46 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G33760 34
  • 51.39 (n)
rice
(Oryza sativa)
Liliopsida Os01g0153400 34
  • 50.89 (n)
Os.24869 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC736.06 34
  • 49.43 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02585 34
  • 48.41 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14098 34
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 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
rs121918205 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105], Pathogenic 173,857,643(+) AGGAA(C/G)TGAAG reference, missense
rs121918207 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105], Pathogenic 173,838,207(+) TGCCC(A/C/G)ATGTT reference, missense
rs121918208 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105], Pathogenic 173,831,593(+) TGCCT(G/T)CAAGA reference, missense
rs121918209 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105], Pathogenic 173,826,692(+) AATTC(A/G)GTAGC reference, missense
rs121918210 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105], Pathogenic 173,833,419(+) CTTGC(A/G)TAGTT reference, missense

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

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

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

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

Disorders for DARS2 Gene

MalaCards: The human disease database

(6) 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
  • leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
episodic ataxia
  • isaacs syndrome
mitochondrial dna depletion syndrome 4a
  • diffuse cerebral sclerosis of schilder
autosomal recessive disease
  • autosomal recessive disorder
myoclonic epilepsy associated with ragged-red fibers
  • merrf syndrome
- 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 64
  2. Thermodynamic properties distinguish human mitochondrial aspartyl-tRNA synthetase from bacterial homolog with same 3D architecture. (PMID: 23275545) Neuenfeldt A. … Florentz C. (Nucleic Acids Res. 2013) 3 4 64
  3. DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. (PMID: 19592391) Isohanni P. … Suomalainen A. (J. Med. Genet. 2010) 3 22 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. 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 46 64

Products for DARS2 Gene

Sources for DARS2 Gene

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