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] See more...

Aliases for LARS2 Gene

Aliases for LARS2 Gene

  • Leucyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Probable Leucine--TRNA Ligase, Mitochondrial 3 4
  • Leucine TRNA Ligase 2, Mitochondrial 2 3
  • EC 6.1.1.4 4 51
  • KIAA0028 2 4
  • MtLeuRS 2 3
  • LEURS 2 3
  • Probable Leucyl-TRNA Synthetase, Mitochondrial 3
  • Leucine TRNA Ligase 2, Mitocondrial 3
  • Leucyl-TRNA Synthetase 4
  • Leucine Translase 3
  • MGC26121 2
  • EC 6.1.1 51
  • PRLTS4 3
  • HLASA 3
  • LARS2 5
  • LeuRS 4

External Ids for LARS2 Gene

Previous GeneCards Identifiers for LARS2 Gene

  • GC03P044670
  • GC03P045249
  • GC03P045390
  • GC03P045405

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 Hydrops, Lactic Acidosis, And Sideroblastic Anemia and Perrault Syndrome 4. Among its related pathways are tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleotide binding and aminoacyl-tRNA editing activity. An important paralog of this gene is VARS1.

Gene Wiki entry for LARS2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LARS2 Gene

Genomics for LARS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LARS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J045387 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 256.5 +0.4 428 2.4 TBP SP1 MXD4 CEBPA SIX5 NR2C1 MNT DEK SMAD5 ETS1 LARS2 HSALNG0025615 LIMD1 FYCO1 XCR1 piR-50443-259
GH03J045544 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 32.3 +156.8 156762 2.6 CEBPA MNT BHLHE40 CTCF CEBPB ZNF395 SAP130 RXRA TAF9B MYNN LARS2 LARS2-AS1 LIMD1 piR-54084 piR-57460-481 HSALNG0025620
GH03J045507 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 31.8 +120.5 120513 3.4 IKZF1 CTCF ZIC2 SIN3A REST ZNF639 GABPA ZNF146 ZNF316 PRDM6 HSALNG0025619 LARS2-AS1 LARS2 LIMD1 piR-42491-154
GH03J045549 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 22.4 +164.2 164171 5.7 TBP MNT IKZF1 MBD2 BHLHE40 ZIC2 SIN3A ZNF395 VEZF1 TRIM22 piR-54084 LARS2 LIMD1 SACM1L
GH03J045536 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 31.2 +148.2 148240 6 ZIC2 RXRA ZBTB33 SPI1 HNF4A IKZF1 RAD21 REST GLIS1 MAX LARS2 SACM1L LARS2-AS1 LIMD1-AS1 piR-57460-481 piR-54084 HSALNG0025620 LIMD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LARS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LARS2

Top Transcription factor binding sites by QIAGEN in the LARS2 gene promoter:
  • AML1a
  • Brachyury
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Pax-2
  • Pax-2a
  • Pax-2b

Genomic Locations for LARS2 Gene

Latest Assembly
chr3:45,388,561-45,554,726
(GRCh38/hg38)
Size:
166,166 bases
Orientation:
Plus strand

Previous Assembly
chr3:45,430,068-45,590,899
(GRCh37/hg19 by Entrez Gene)
Size:
160,832 bases
Orientation:
Plus strand

chr3:45,429,998-45,590,913
(GRCh37/hg19 by Ensembl)
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=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for LARS2 Gene

Selected DME Specific Peptides for LARS2 Gene

Q15031:
  • TDTMDTF
  • VDLYIGG
  • DAFGLPAE
  • EHAVMHL
  • PMGWDAFGLP
  • PDYYKWTQ
  • VNWDPVD
  • LHMGHVR
  • DWLISRQR
  • GLAYQKEA
  • PIPIVHC
  • MFPYPSG
  • DQTVLANEQ
  • EKMSKSK
  • RFQKMRG
  • TVLANEQV
  • SRQRYWGTPIP
  • WMPVDLY
  • LFAAPPE
  • FGLPAENAA
  • RYWGTPIP
  • SRQRYWG

Post-translational modifications for LARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for LARS2

Domains & Families for LARS2 Gene

Gene Families for LARS2 Gene

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

Protein Domains for LARS2 Gene

InterPro:
Blocks:
  • Aminoacyl-tRNA synthetase, class Ia
  • Leucyl-tRNA synthetase signature
ProtoNet:

Suggested Antigen Peptide Sequences for LARS2 Gene

GenScript: Design optimal peptide antigens:
  • Leucyl-tRNA synthetase, mitochondrial (Q9BQR0_HUMAN)
  • Leucine--tRNA ligase (SYLM_HUMAN)

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:
Reaction=ATP + L-leucine + tRNA(Leu) = AMP + diphosphate + L-leucyl-tRNA(Leu); Xref=Rhea:RHEA:11688, Rhea:RHEA-COMP:9613, Rhea:RHEA-COMP:9622, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57427, ChEBI:CHEBI:78442, ChEBI:CHEBI:78494, ChEBI:CHEBI:456215; EC=6.1.1.4;.

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:0000166 nucleotide binding IEA --
GO:0002161 aminoacyl-tRNA editing activity IEA --
GO:0004812 aminoacyl-tRNA ligase 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 Models for research

  • Taconic Biosciences Mouse Models for LARS2

Inhibitory RNAs for research

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

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 LARS2 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 3
extracellular 2
endosome 2
lysosome 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 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 21873635
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

Interacting Proteins 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 TAS --
GO:0006429 leucyl-tRNA aminoacylation IBA,IDA 10684970
GO:0032543 mitochondrial translation IBA 21873635
GO:0106074 aminoacyl-tRNA metabolism involved in 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
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
Leucine Investigational Nutra Target 181
ATP Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cer(d18:1/16:0)
  • (2S,3R,4E)-2-Acylamino-1,3-octadec-4-enediol
  • (2S,3R,4E)-2-Acylaminooctadec-4-ene-1,3-diol
  • C16 Cer
  • C16 Ceramide
  • C16-0(Palmitoyl)ceramide
24696-26-2
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with LARS2: view

Transcripts for LARS2 Gene

mRNA/cDNA for LARS2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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: - -
SP2:
SP3: - -
SP4:

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

Relevant External Links for LARS2 Gene

GeneLoc Exon Structure for
LARS2

Expression for LARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for LARS2 Gene



Protein tissue co-expression partners for LARS2 Gene

- Elite partner

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

Evidence on tissue expression from TISSUES for LARS2 Gene

  • Nervous system(4.4)
  • Bone marrow(4.1)
  • Kidney(2.2)
  • Liver(2.2)
  • Heart(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • 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
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with LARS2: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia LARS2 30 31
  • 99.34 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LARS2 31
  • 89 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LARS2 30 31
  • 88.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lars2 30 17 31
  • 84.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lars2 30
  • 84.59 (n)
Oppossum
(Monodelphis domestica)
Mammalia LARS2 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 80 (a)
OneToMany
-- 31
  • 80 (a)
OneToMany
Chicken
(Gallus gallus)
Aves LARS2 30 31
  • 71.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LARS2 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lars2 30
  • 68.12 (n)
Zebrafish
(Danio rerio)
Actinopterygii lars2 30 31
  • 65.59 (n)
OneToMany
LARS2 (2 of 2) 31
  • 60 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002014 30
  • 52.63 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Aats-leu 30 31
  • 52.62 (n)
OneToOne
CG7479 32
  • 43 (a)
Worm
(Caenorhabditis elegans)
Secernentea lars-2 30 31
  • 49.62 (n)
OneToOne
lrs-2 32
  • 35 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAM2 30 31 33
  • 49.81 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER043C 30
  • 48.62 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05325g 30
  • 47.31 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons EMB2369 30
  • 46.72 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
OneToMany
CSA.9442 31
  • 34 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU03814 30
  • 48.6 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4G8.09 30
  • 48.36 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.670 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for LARS2: view image

Paralogs for LARS2 Gene

Paralogs for LARS2 Gene

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

  • SYLM_HUMAN
  • C9IZR7_HUMAN
  • C9JYR8_HUMAN
  • E9PHM2_HUMAN
genes like me logo Genes that share paralogs with LARS2: view

Variants for LARS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LARS2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
869196 Likely Pathogenic: Perrault syndrome 4 45,488,810(+) G/A
NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys)
MISSENSE
929744 Uncertain Significance: Premature ovarian failure 45,400,336(+) A/G
NM_015340.4(LARS2):c.326A>G (p.Asp109Gly)
MISSENSE
929969 Likely Benign: not specified 45,476,488(+) C/T
NM_015340.4(LARS2):c.879C>T (p.Gly293=)
SYNONYMOUS
982822 Uncertain Significance: Perrault syndrome 4 45,516,211(+) A/T
NM_015340.4(LARS2):c.1979A>T (p.Asp660Val)
MISSENSE
992952 Pathogenic: Perrault syndrome 4 45,476,489(+) G/A
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LARS2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for LARS2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for LARS2 Gene

MalaCards: The human disease database

(24) MalaCards diseases for LARS2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hydrops, lactic acidosis, and sideroblastic anemia
  • hlasa
perrault syndrome 4
  • prlts4
perrault syndrome
  • gonadal dysgenesis, xx type
mitochondrial myopathy
  • mitochondrial cytopathy
sideroblastic anemia
  • anemia sideroblastic
- 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]: An autosomal recessive, 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 variants affecting the gene represented in this entry.
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for LARS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23
  2. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. (PMID: 23541342) Pierce SB … Levy-Lahad E (American journal of human genetics 2013) 3 4 74
  3. 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 23 41
  4. 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 23
  5. Expression and characterization of the human mitochondrial leucyl-tRNA synthetase. (PMID: 10684970) Bullard JM … Spremulli LL (Biochimica et biophysica acta 2000) 2 3 23

Products for LARS2 Gene

Sources for LARS2 Gene