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Aliases for IARS2 Gene

Aliases for IARS2 Gene

  • Isoleucyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • EC 4 63
  • ILERS 3 4
  • Isoleucine-TRNA Synthetase 2, Mitochondrial 3
  • Isoleucyl-TRNA Synthetase, Mitochondrial 3
  • Mitochondrial Isoleucine TRNA Synthetase 3
  • Isoleucine TRNA Ligase 2, Mitochondrial 3
  • Isoleucyl-TRNA Synthetase 4
  • Isoleucine TRNA Ligase 2 2
  • Mitochondrial 2
  • EC 6.1.1 63
  • CAGSSS 3

External Ids for IARS2 Gene

Previous GeneCards Identifiers for IARS2 Gene

  • GC01P216656
  • GC01P218334
  • GC01P220267
  • GC01P190941

Summaries for IARS2 Gene

Entrez Gene Summary for IARS2 Gene

  • Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]

GeneCards Summary for IARS2 Gene

IARS2 (Isoleucyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with IARS2 include Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia and Growth Hormone Deficiency. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include nucleotide binding and aminoacyl-tRNA editing activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IARS2 Gene

Genomics for IARS2 Gene

Regulatory Elements for IARS2 Gene

Enhancers for IARS2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IARS2 on UCSC Golden Path with GeneCards custom track

Promoters for IARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IARS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for IARS2 Gene

220,094,102 bp from pter
220,148,041 bp from pter
53,940 bases
Plus strand

Genomic View for IARS2 Gene

Genes around IARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IARS2 Gene

Proteins for IARS2 Gene

  • Protein details for IARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Isoleucine--tRNA ligase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2RPG8
    • Q1M2P9
    • Q6PI85
    • Q7L439
    • Q86WU9
    • Q96D91
    • Q9H9Q8
    • Q9NW42

    Protein attributes for IARS2 Gene

    1012 amino acids
    Molecular mass:
    113792 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA91544.1; Type=Frameshift; Positions=879; Evidence={ECO:0000305}; Sequence=BAB14164.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for IARS2 Gene

Proteomics data for IARS2 Gene at MOPED

Post-translational modifications for IARS2 Gene

  • Ubiquitination at Lys 241 and Lys 445
  • Modification sites at PhosphoSitePlus

Other Protein References for IARS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for IARS2 Gene

Gene Families for IARS2 Gene

Suggested Antigen Peptide Sequences for IARS2 Gene

GenScript: Design optimal peptide antigens:

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 IARS2: view

Function for IARS2 Gene

Molecular function for IARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-isoleucine + tRNA(Ile) = AMP + diphosphate + L-isoleucyl-tRNA(Ile).

Enzyme Numbers (IUBMB) for IARS2 Gene

Gene Ontology (GO) - Molecular Function for IARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004812 aminoacyl-tRNA ligase activity IEA --
genes like me logo Genes that share ontologies with IARS2: view
genes like me logo Genes that share phenotypes with IARS2: view

Human Phenotype Ontology for IARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for IARS2 Gene

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for IARS2 Gene

Localization for IARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IARS2 Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for IARS2 Gene COMPARTMENTS Subcellular localization image for IARS2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for IARS2 Gene

Pathways & Interactions for IARS2 Gene

genes like me logo Genes that share pathways with IARS2: view

Pathways by source for IARS2 Gene

1 KEGG pathway for IARS2 Gene

Interacting Proteins for IARS2 Gene

Gene Ontology (GO) - Biological Process for IARS2 Gene


No data available for SIGNOR curated interactions for IARS2 Gene

Drugs & Compounds for IARS2 Gene

(4) Drugs for IARS2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Isoleucine Approved Nutra Target 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for IARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
genes like me logo Genes that share compounds with IARS2: view

Transcripts for IARS2 Gene

Unigene Clusters for IARS2 Gene

Isoleucyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IARS2 Gene

No ASD Table

Relevant External Links for IARS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IARS2 Gene

mRNA expression in normal human tissues for IARS2 Gene

Protein differential expression in normal tissues from HIPED for IARS2 Gene

This gene is overexpressed in Lymph node (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for IARS2 Gene

SOURCE GeneReport for Unigene cluster for IARS2 Gene Hs.262823

genes like me logo Genes that share expression patterns with IARS2: view

Protein tissue co-expression partners for IARS2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for IARS2 Gene

Orthologs for IARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IARS2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia IARS2 35
  • 88.7 (n)
  • 88.83 (a)
IARS2 36
  • 89 (a)
(Canis familiaris)
Mammalia IARS2 35
  • 89.43 (n)
  • 90.85 (a)
IARS2 36
  • 91 (a)
(Mus musculus)
Mammalia Iars2 35
  • 81.59 (n)
  • 83.4 (a)
Iars2 16
Iars2 36
  • 83 (a)
(Pan troglodytes)
Mammalia IARS2 35
  • 99.31 (n)
  • 99.6 (a)
IARS2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Iars2 35
  • 76.38 (n)
  • 76.65 (a)
(Monodelphis domestica)
Mammalia IARS2 36
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia IARS2 36
  • 79 (a)
(Gallus gallus)
Aves IARS2 35
  • 73.83 (n)
  • 72.42 (a)
IARS2 36
  • 70 (a)
(Anolis carolinensis)
Reptilia IARS2 36
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia iars2 35
  • 67.32 (n)
  • 67.86 (a)
(Danio rerio)
Actinopterygii iars2 35
  • 61.99 (n)
  • 62.51 (a)
iars2 36
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003156 35
  • 48.42 (n)
  • 43.01 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5414 35
  • 49.82 (n)
  • 42.37 (a)
CG5414 36
  • 39 (a)
(Caenorhabditis elegans)
Secernentea iars-2 35
  • 46.62 (n)
  • 36.64 (a)
iars-2 36
  • 30 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL247C 35
  • 47.04 (n)
  • 39.75 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11858g 35
  • 49.75 (n)
  • 41.54 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISM1 35
  • 49.8 (n)
  • 40.5 (a)
ISM1 36
  • 36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons OVA2 35
  • 50.83 (n)
  • 43.83 (a)
(Oryza sativa)
Liliopsida Os02g0778200 35
  • 52.06 (n)
  • 44.37 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00920 35
  • 47.61 (n)
  • 40.6 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC18B5.08c 35
  • 49.16 (n)
  • 40.47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
Species with no ortholog for IARS2:
  • 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 IARS2 Gene

Gene Tree for IARS2 (if available)
Gene Tree for IARS2 (if available)

Paralogs for IARS2 Gene Pseudogenes for IARS2 Gene

genes like me logo Genes that share paralogs with IARS2: view

No data available for Paralogs for IARS2 Gene

Variants for IARS2 Gene

Sequence variations from dbSNP and Humsavar for IARS2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_034526 -
rs2577154 - 220,094,257(-) CCAGG(A/G)CGGCC reference, missense
rs143722284 - 220,137,990(+) TCACC(A/G)AAGTT reference, missense
VAR_072591 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)
rs11095 -- 220,147,681(+) TGGCT(A/G)GAAGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for IARS2 Gene

Variant ID Type Subtype PubMed ID
nsv832636 CNV Loss 17160897
esv2107700 CNV Deletion 18987734
esv2723162 CNV Deletion 23290073
esv2676354 CNV Deletion 23128226
esv2665152 CNV Deletion 23128226
esv2663970 CNV Deletion 23128226

Variation tolerance for IARS2 Gene

Residual Variation Intolerance Score: 26.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.93; 67.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IARS2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IARS2 Gene

Disorders for IARS2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for IARS2 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
  • cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
growth hormone deficiency
  • isolated somatotropin deficiency
decubitus ulcer
  • bedsore
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards
Search IARS2 in MalaCards View complete list of genes associated with diseases


  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007]: An autosomal recessive disorder characterized by cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism. {ECO:0000269 PubMed:25130867}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IARS2

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 IARS2: view

No data available for Genatlas for IARS2 Gene

Publications for IARS2 Gene

  1. Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. (PMID: 25130867) Schwartzentruber J. … Samuels M.E. (Hum. Mutat. 2014) 3 4 67
  2. A present-day aminoacyl-tRNA synthetase with ancestral editing properties. (PMID: 17095543) Zhu B. … Wang E.D. (RNA 2007) 25 26
  3. Structural basis for substrate recognition by the editing domain of isoleucyl-tRNA synthetase. (PMID: 16697013) Fukunaga R. … Yokoyama S. (J. Mol. Biol. 2006) 25 26
  4. Crystal structure of leucyl-tRNA synthetase from the archaeon Pyrococcus horikoshii reveals a novel editing domain orientation. (PMID: 15663927) Fukunaga R. … Yokoyama S. (J. Mol. Biol. 2005) 25 26
  5. Crystal structures of the CP1 domain from Thermus thermophilus isoleucyl-tRNA synthetase and its complex with L-valine. (PMID: 14672940) Fukunaga R. … Yokoyama S. (J. Biol. Chem. 2004) 25 26

Products for IARS2 Gene

Sources for IARS2 Gene