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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 4 58
  • LEURS 3 4
  • Probable Leucyl-TRNA Synthetase, Mitochondrial 3
  • Probable Leucine--TRNA Ligase, Mitochondrial 3
  • Leucine TRNA Ligase 2, Mitocondrial 3
  • Leucyl-TRNA Synthetase 4
  • Leucine Translase 3
  • KIAA0028 4
  • EC 6.1.1 58
  • 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 Hydrops, Lactic Acidosis, And Sideroblastic Anemia. 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

Additional gene information for LARS2 Gene

No data available for CIViC summary , 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
GH03H045544 1.8 FANTOM5 Ensembl ENCODE dbSUPER 32.3 +158.2 158194 5.3 HDGF FOXA2 PKNOX1 ATF1 YY1 ATF7 REST ZNF592 MAFF SMARCA4 LARS2 LARS2-AS1 LIMD1 PIR48083
GH03H045549 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22.4 +164.2 164226 5.7 HDGF PKNOX1 ATF1 SIN3A TCF12 GLIS2 GATA2 ATF7 FOS RUNX3 LARS2 LIMD1 SACM1L PIR48083
GH03H045507 1.2 Ensembl ENCODE 31.8 +120.6 120568 3.4 HDAC1 PKNOX1 INSM2 KLF17 ZBTB40 ZNF2 RAD21 BRCA1 ZNF121 ZSCAN5C LARS2 LIMD1 LARS2-AS1
GH03H045537 1.2 Ensembl ENCODE dbSUPER 31.2 +149.8 149763 1.7 MAX REST ZIC2 RAD21 YY1 POLR2A IKZF1 HNF4G ZBTB33 HNF4A LARS2 LIMD1-AS1 SACM1L PIR48083 LARS2-AS1
GH03H045566 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +178.8 178768 2.4 TBL1XR1 EBF1 RELA CTBP1 EED ATF7 ETV6 RUNX3 IKZF2 CREM LARS2 LIMD1 SACM1L PIR41902
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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 Locations for LARS2 Gene

Genomic Locations for LARS2 Gene
160,916 bases
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:
    Recommended name:
    Probable leucine--tRNA ligase, mitochondrial
    Protein Accession:

    Protein attributes for LARS2 Gene

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

neXtProt entry for LARS2 Gene

Selected DME Specific Peptides for LARS2 Gene


Post-translational modifications for LARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for LARS2 Gene

Gene Families for LARS2 Gene

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

Suggested Antigen Peptide Sequences for LARS2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class-I aminoacyl-tRNA synthetase 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

Phenotypes From GWAS Catalog 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:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004823 leucine-tRNA ligase activity TAS,IEA --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity 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

miRNA for LARS2 Gene

miRTarBase miRNAs that target LARS2

Clone Products

  • Addgene plasmids for LARS2

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

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 LARS2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
extracellular 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for LARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
GO:0005759 mitochondrial matrix TAS --
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 BioSystems pathway 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:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006429 leucyl-tRNA aminoacylation IDA,IEA 10684970
GO:0006450 regulation of translational fidelity IEA --
GO:0032543 mitochondrial translation IBA --
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
ATP Nutra Agonist 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
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
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:

Clone Products

  • Addgene plasmids for LARS2

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: - -
SP3: - -

ExUns: 23b

Relevant External Links for LARS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for LARS2 Gene:


mRNA Expression by UniProt/SwissProt for LARS2 Gene:

Tissue specificity: Ubiquitously expressed, but highest expression in tissues with high metabolic rates, such as skeletal muscle, heart, and kidney.

Evidence on tissue expression from TISSUES for LARS2 Gene

  • Nervous system(4.2)
  • Bone marrow(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LARS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • pituitary gland
  • skull
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with LARS2: view

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
(Pan troglodytes)
Mammalia LARS2 33 34
  • 99.34 (n)
(Bos Taurus)
Mammalia LARS2 34
  • 89 (a)
(Canis familiaris)
Mammalia LARS2 33 34
  • 88.04 (n)
(Mus musculus)
Mammalia Lars2 33 16 34
  • 84.89 (n)
(Rattus norvegicus)
Mammalia Lars2 33
  • 84.59 (n)
(Monodelphis domestica)
Mammalia LARS2 34
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
-- 34
  • 80 (a)
(Gallus gallus)
Aves LARS2 33 34
  • 71.1 (n)
(Anolis carolinensis)
Reptilia LARS2 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lars2 33
  • 68.12 (n)
(Danio rerio)
Actinopterygii lars2 33 34
  • 65.59 (n)
LARS2 (2 of 2) 34
  • 60 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002014 33
  • 52.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta Aats-leu 33 34
  • 52.62 (n)
CG7479 35
  • 43 (a)
(Caenorhabditis elegans)
Secernentea lars-2 33 34
  • 49.62 (n)
lrs-2 35
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAM2 33 34 36
  • 49.81 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER043C 33
  • 48.62 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05325g 33
  • 47.31 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2369 33
  • 46.72 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
CSA.9442 34
  • 34 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03814 33
  • 48.6 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4G8.09 33
  • 48.36 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.670 33
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

Gene Tree for LARS2 (if available)
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
rs199589947 Pathogenic, Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) [MIM:617021], Perrault syndrome 4 (PRLTS4) [MIM:615300] 45,496,316(+) GGATA(A/C)CTTTG intron-variant, reference, missense
rs398123036 Pathogenic, Perrault syndrome 4 (PRLTS4) [MIM:615300] 45,516,118(+) AAAAA(C/T)GAAAG reference, missense
rs879255606 Pathogenic, Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) [MIM:617021] 45,491,566(+) GAAAG(C/T)CCGGG intron-variant, reference, missense
rs398123037 Pathogenic 45,485,750(+) GTCGT(-/T)ATTTT intron-variant, reference, frameshift-variant
rs864309642 Pathogenic 45,476,508(+) CTATA(C/T)GGCCA reference, missense

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

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

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for LARS2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
perrault syndrome 4
  • prlts4
hydrops, lactic acidosis, and sideroblastic anemia
  • hlasa
perrault syndrome
  • gonadal dysgenesis, xx type
sideroblastic anemia
  • anemia sideroblastic
lactic acidosis
  • acidosis lactic
- elite association - COSMIC cancer census association via MalaCards
Search LARS2 in MalaCards View complete list of genes associated with diseases


  • Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) [MIM:617021]: A lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease. {ECO:0000269 PubMed:26537577}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 MX (Molecular and cellular biology 2010) 2 3 4 22 60
  2. Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene. (PMID: 15919814) 't Hart LM … Maassen JA (Diabetes 2005) 3 22 45 60
  3. Recognition of human mitochondrial tRNALeu(UUR) by its cognate leucyl-tRNA synthetase. (PMID: 15123417) Sohm B … Florentz C (Journal of molecular biology 2004) 2 3 22 60
  4. Expression and characterization of the human mitochondrial leucyl-tRNA synthetase. (PMID: 10684970) Bullard JM … Spremulli LL (Biochimica et biophysica acta 2000) 2 3 22 60
  5. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. (PMID: 26537577) Riley LG … Christodoulou J (JIMD reports 2016) 3 4 60

Products for LARS2 Gene

  • Addgene plasmids for LARS2

Sources for LARS2 Gene

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