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Aliases for LARS2 Gene

Aliases for LARS2 Gene

  • Leucyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Leucine TRNA Ligase 2, Mitochondrial 2 3
  • EC 6.1.1.4 4 61
  • LEURS 3 4
  • Probable Leucyl-TRNA Synthetase, Mitochondrial 3
  • Probable Leucine--TRNA Ligase, Mitochondrial 3
  • Leucine TRNA Ligase 2, Mitocondrial 3
  • Leucyl-TRNA Synthetase 2 3
  • Leucyl-TRNA Synthetase 4
  • Leucine Translase 3
  • KIAA0028 4
  • EC 6.1.1 61
  • MtLeuRS 3
  • PRLTS4 3
  • HLASA 3

External Ids for LARS2 Gene

Previous GeneCards Identifiers for LARS2 Gene

  • GC03P044670
  • GC03P045249
  • GC03P045390

Summaries for LARS2 Gene

Entrez Gene Summary for LARS2 Gene

  • This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]

GeneCards Summary for LARS2 Gene

LARS2 (Leucyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with LARS2 include Perrault Syndrome 4 and Perrault Syndrome. Among its related pathways are tRNA Aminoacylation and Gene Expression. GO annotations related to this gene include nucleotide binding and aminoacyl-tRNA editing activity.

Gene Wiki entry for LARS2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LARS2 Gene

Genomics for LARS2 Gene

Regulatory Elements for LARS2 Gene

Enhancers for LARS2 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around LARS2 on UCSC Golden Path with GeneCards custom track

Promoters for LARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for LARS2 Gene

Chromosome:
3
Start:
45,388,506 bp from pter
End:
45,549,421 bp from pter
Size:
160,916 bases
Orientation:
Plus strand

Genomic View for LARS2 Gene

Genes around LARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LARS2 Gene

Proteins for LARS2 Gene

  • Protein details for LARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15031-SYLM_HUMAN
    Recommended name:
    Probable leucine--tRNA ligase, mitochondrial
    Protein Accession:
    Q15031

    Protein attributes for LARS2 Gene

    Size:
    903 amino acids
    Molecular mass:
    101976 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA04877.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for LARS2 Gene

Post-translational modifications for LARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LARS2 Gene

Domains & Families for LARS2 Gene

Gene Families for LARS2 Gene

Suggested Antigen Peptide Sequences for LARS2 Gene

Graphical View of Domain Structure for InterPro Entry

Q15031

UniProtKB/Swiss-Prot:

SYLM_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with LARS2: view

Function for LARS2 Gene

Molecular function for LARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-leucine + tRNA(Leu) = AMP + diphosphate + L-leucyl-tRNA(Leu).

Enzyme Numbers (IUBMB) for LARS2 Gene

Gene Ontology (GO) - Molecular Function for LARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002161 aminoacyl-tRNA editing activity IEA --
GO:0004823 leucine-tRNA ligase activity TAS --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with LARS2: view
genes like me logo Genes that share phenotypes with LARS2: view

Human Phenotype Ontology for LARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for LARS2

CRISPR Products

miRNA for LARS2 Gene

miRTarBase miRNAs that target LARS2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LARS2

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for LARS2 Gene

Localization for LARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LARS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LARS2 Gene COMPARTMENTS Subcellular localization image for LARS2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
chloroplast 1
extracellular 1

Gene Ontology (GO) - Cellular Components for LARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IBA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 NOT cytosol IBA --
genes like me logo Genes that share ontologies with LARS2: view

Pathways & Interactions for LARS2 Gene

genes like me logo Genes that share pathways with LARS2: view

Pathways by source for LARS2 Gene

1 KEGG pathway for LARS2 Gene

Gene Ontology (GO) - Biological Process for LARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006429 leucyl-tRNA aminoacylation IDA 10684970
GO:0006450 regulation of translational fidelity IEA --
genes like me logo Genes that share ontologies with LARS2: view

No data available for SIGNOR curated interactions for LARS2 Gene

Drugs & Compounds for LARS2 Gene

(4) Drugs for LARS2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Leucine Approved Nutra Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for LARS2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ceramide (d18:1/16:0)
  • (2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol
  • (2S,3R,4E)-2-acylaminooctadec-4-ene-1,3-diol
  • Cer
  • Ceramide
  • N-Acylsphingosine
104404-17-3
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with LARS2: view

Transcripts for LARS2 Gene

Unigene Clusters for LARS2 Gene

Leucyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LARS2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LARS2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a ·
SP1: - -
SP2:
SP3: - -
SP4:

ExUns: 23b
SP1:
SP2:
SP3:
SP4:

Relevant External Links for LARS2 Gene

GeneLoc Exon Structure for
LARS2
ECgene alternative splicing isoforms for
LARS2

Expression for LARS2 Gene

mRNA expression in normal human tissues for LARS2 Gene

Protein differential expression in normal tissues from HIPED for LARS2 Gene

This gene is overexpressed in Lymph node (18.9) and Salivary gland (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LARS2 Gene



Protein tissue co-expression partners for LARS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LARS2 Gene:

LARS2

SOURCE GeneReport for Unigene cluster for LARS2 Gene:

Hs.526975

mRNA Expression by UniProt/SwissProt for LARS2 Gene:

Q15031-SYLM_HUMAN
Tissue specificity: Ubiquitously expressed, but highest expression in tissues with high metabolic rates, such as skeletal muscle, heart, and kidney.
genes like me logo Genes that share expression patterns with LARS2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LARS2 Gene

Orthologs for LARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LARS2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia LARS2 34
  • 88.04 (n)
  • 90.48 (a)
LARS2 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lars2 34
  • 84.89 (n)
  • 86.59 (a)
Lars2 16
Lars2 35
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LARS2 34
  • 99.34 (n)
  • 99.67 (a)
LARS2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lars2 34
  • 84.59 (n)
  • 86.83 (a)
cow
(Bos Taurus)
Mammalia LARS2 35
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LARS2 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 80 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
chicken
(Gallus gallus)
Aves LARS2 34
  • 71.1 (n)
  • 70.99 (a)
LARS2 35
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LARS2 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lars2 34
  • 68.12 (n)
  • 69.64 (a)
zebrafish
(Danio rerio)
Actinopterygii lars2 34
  • 65.59 (n)
  • 65.78 (a)
lars2 35
  • 67 (a)
OneToMany
LARS2 (2 of 2) 35
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7479 36
  • 43 (a)
Aats-leu 34
  • 52.62 (n)
  • 47.61 (a)
Aats-leu 35
  • 42 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002014 34
  • 52.63 (n)
  • 45.67 (a)
worm
(Caenorhabditis elegans)
Secernentea lrs-2 36
  • 35 (a)
lars-2 34
  • 49.62 (n)
  • 39.86 (a)
lars-2 35
  • 31 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER043C 34
  • 48.62 (n)
  • 41.5 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05325g 34
  • 47.31 (n)
  • 40.3 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAM2 34
  • 49.81 (n)
  • 43.61 (a)
NAM2 35
  • 35 (a)
OneToOne
NAM2 37
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2369 34
  • 46.72 (n)
  • 38.37 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.670 34
bread mold
(Neurospora crassa)
Ascomycetes NCU03814 34
  • 48.6 (n)
  • 40.78 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4G8.09 34
  • 48.36 (n)
  • 43.58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 56 (a)
OneToMany
CSA.9442 35
  • 34 (a)
OneToMany
Species where no ortholog for LARS2 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 (Oryza sativa)
  • 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 LARS2 Gene

ENSEMBL:
Gene Tree for LARS2 (if available)
TreeFam:
Gene Tree for LARS2 (if available)

Paralogs for LARS2 Gene

(1) SIMAP similar genes for LARS2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with LARS2: view

No data available for Paralogs for LARS2 Gene

Variants for LARS2 Gene

Sequence variations from dbSNP and Humsavar for LARS2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs36054230 - 45,518,039(+) AGGAA(G/T)CTCTG reference, missense
rs9827689 - 45,541,917(+) CCGGA(G/T)TTCCT reference, missense
VAR_070094 Perrault syndrome 4 (PRLTS4)
rs398123036 Perrault syndrome 4 (PRLTS4) 45,516,118(+) AAAAA(C/T)GAAAG reference, missense
rs854181 -- 45,403,519(+) ccatg(G/T)tggtc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LARS2 Gene

Variant ID Type Subtype PubMed ID
dgv8301n54 CNV loss 21841781
dgv8302n54 CNV loss 21841781
dgv8303n54 CNV loss 21841781
esv1659959 CNV insertion 17803354
esv25561 CNV loss 19812545
esv2664866 CNV deletion 23128226
esv2670188 CNV deletion 23128226
esv3306716 CNV mobile element insertion 20981092
esv3310117 CNV mobile element insertion 20981092
esv3371992 CNV duplication 20981092
esv3394803 CNV insertion 20981092
esv3436877 CNV insertion 20981092
esv3561813 CNV deletion 23714750
esv3561814 CNV deletion 23714750
esv3596047 CNV loss 21293372
esv3596048 CNV loss 21293372
esv3596049 CNV loss 21293372
esv3596051 CNV loss 21293372
nsv1127954 CNV deletion 24896259
nsv3794 CNV insertion 18451855
nsv476655 CNV novel sequence insertion 20440878
nsv590162 CNV loss 21841781
nsv590177 CNV loss 21841781
nsv834677 CNV gain 17160897

Variation tolerance for LARS2 Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.99; 60.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LARS2 Gene

Human Gene Mutation Database (HGMD)
LARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LARS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LARS2 Gene

Disorders for LARS2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for LARS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
perrault syndrome 4
  • prlts4
perrault syndrome
  • gonadal dysgenesis, xx type, with deafness
nasopharyngitis
  • chronic nasopharyngitis
nasopharyngeal disease
  • nasopharyngeal diseases
mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
  • melas syndrome
- elite association - COSMIC cancer census association via MalaCards
Search LARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYLM_HUMAN
  • Perrault syndrome 4 (PRLTS4) [MIM:615300]: A sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. {ECO:0000269 PubMed:23541342}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LARS2

Genetic Association Database (GAD)
LARS2
Human Genome Epidemiology (HuGE) Navigator
LARS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LARS2
genes like me logo Genes that share disorders with LARS2: view

No data available for Genatlas for LARS2 Gene

Publications for LARS2 Gene

  1. Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes. (PMID: 20194621) Li R. … Guan M.X. (Mol. Cell. Biol. 2010) 2 3 4 22 65
  2. Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene. (PMID: 15919814) 't Hart L.M. … Maassen J.A. (Diabetes 2005) 3 22 46 65
  3. Recognition of human mitochondrial tRNALeu(UUR) by its cognate leucyl-tRNA synthetase. (PMID: 15123417) Sohm B. … Florentz C. (J. Mol. Biol. 2004) 2 3 22 65
  4. Expression and characterization of the human mitochondrial leucyl-tRNA synthetase. (PMID: 10684970) Bullard J.M. … Spremulli L.L. (Biochim. Biophys. Acta 2000) 2 3 22 65
  5. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. (PMID: 23541342) Pierce S.B. … Levy-Lahad E. (Am. J. Hum. Genet. 2013) 3 4 65

Products for LARS2 Gene

Sources for LARS2 Gene

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