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Aliases for IARS2 Gene

Aliases for IARS2 Gene

  • Isoleucyl-TRNA Synthetase 2, Mitochondrial 2 3
  • EC 6.1.1.5 4 64
  • 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
  • Isoleucine--TRNA Ligase, Mitochondrial 3
  • Isoleucyl-TRNA Synthetase 4
  • Isoleucine TRNA Ligase 2 2
  • Mitochondrial 2
  • EC 6.1.1 64
  • CAGSSS 3

External Ids for IARS2 Gene

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. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include aminoacyl-tRNA editing activity and isoleucine-tRNA ligase 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

Genomic Location for IARS2 Gene

Start:
220,094,102 bp from pter
End:
220,148,041 bp from pter
Size:
53,940 bases
Orientation:
Plus strand

Genomic View for IARS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IARS2 Gene

Regulatory Elements for IARS2 Gene

Proteins for IARS2 Gene

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

    Protein Symbol:
    Q9NSE4-SYIM_HUMAN
    Recommended name:
    Isoleucine--tRNA ligase, mitochondrial
    Protein Accession:
    Q9NSE4
    Secondary Accessions:
    • B2RPG8
    • Q1M2P9
    • Q6PI85
    • Q7L439
    • Q86WU9
    • Q96D91
    • Q9H9Q8
    • Q9NW42

    Protein attributes for IARS2 Gene

    Size:
    1012 amino acids
    Molecular mass:
    113792 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys241, Lys445, and Lys458

Other Protein References for IARS2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for IARS2 Gene

Gene Families for IARS2 Gene

HGNC:
  • aaRS1 :Aminoacyl tRNA synthetases / Class I

UniProtKB/Swiss-Prot:

SYIM_HUMAN
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.:
    • Q9NSE4
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:0000166 nucleotide binding --
GO:0002161 aminoacyl-tRNA editing activity IEA --
GO:0003824 catalytic activity --
GO:0004812 aminoacyl-tRNA ligase activity --
GO:0004822 isoleucine-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

miRNA for IARS2 Gene

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

Localization for IARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IARS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IARS2 Gene COMPARTMENTS Subcellular localization image for IARS2 gene
Compartment Confidence
mitochondrion 4
cytosol 2
chloroplast 1
nucleus 1

Gene Ontology (GO) - Cellular Components for IARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IBA --
genes like me logo Genes that share ontologies with IARS2: view

Pathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006428 isoleucyl-tRNA aminoacylation IBA --
GO:0006450 regulation of translational fidelity IEA --
GO:0010467 gene expression TAS --
GO:0032543 mitochondrial translation IBA --
genes like me logo Genes that share ontologies with IARS2: view

Compounds for IARS2 Gene

(5) HMDB Compounds for IARS2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
L-Isoleucine
  • (2S,3S)-2-Amino-3-methylpentanoate
73-32-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(1) Drugbank Compounds for IARS2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Isoleucine
  • (2S,3S)-2-Amino-3-methylpentanoic acid
73-32-5 target
genes like me logo Genes that share compounds with IARS2: view

Transcripts for IARS2 Gene

mRNA/cDNA 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
IARS2
ECgene alternative splicing isoforms for
IARS2

Expression for IARS2 Gene

mRNA expression in normal human tissues for IARS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with IARS2: view

Orthologs for IARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IARS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IARS2 36
  • 99.31 (n)
  • 99.6 (a)
IARS2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IARS2 36
  • 88.7 (n)
  • 88.83 (a)
IARS2 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IARS2 36
  • 89.43 (n)
  • 90.85 (a)
IARS2 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Iars2 36
  • 81.59 (n)
  • 83.4 (a)
Iars2 16
Iars2 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IARS2 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IARS2 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iars2 36
  • 76.38 (n)
  • 76.65 (a)
chicken
(Gallus gallus)
Aves IARS2 36
  • 73.83 (n)
  • 72.42 (a)
IARS2 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IARS2 37
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iars2 36
  • 67.32 (n)
  • 67.86 (a)
zebrafish
(Danio rerio)
Actinopterygii iars2 36
  • 61.99 (n)
  • 62.51 (a)
iars2 37
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003156 36
  • 48.42 (n)
  • 43.01 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5414 36
  • 49.82 (n)
  • 42.37 (a)
CG5414 37
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea iars-2 36
  • 46.62 (n)
  • 36.64 (a)
iars-2 37
  • 30 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL247C 36
  • 47.04 (n)
  • 39.75 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISM1 36
  • 49.8 (n)
  • 40.5 (a)
ISM1 37
  • 36 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11858g 36
  • 49.75 (n)
  • 41.54 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons OVA2 36
  • 50.83 (n)
  • 43.83 (a)
rice
(Oryza sativa)
Liliopsida Os02g0778200 36
  • 52.06 (n)
  • 44.37 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00920 36
  • 47.61 (n)
  • 40.6 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC18B5.08c 36
  • 49.16 (n)
  • 40.47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 43 (a)
OneToOne
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

ENSEMBL:
Gene Tree for IARS2 (if available)
TreeFam:
Gene Tree for IARS2 (if available)

Paralogs for IARS2 Gene

Pseudogenes.org 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 MAF
rs11095 -- 220,147,681(+) TGGCT(A/G)GAAGT utr-variant-3-prime
rs1039206 -- 220,115,090(-) AAAGA(C/T)TCAGA intron-variant
rs1039207 -- 220,115,063(-) GACTG(C/T)CTCAA intron-variant
rs1124763 -- 220,114,866(+) AATTG(G/T)GTAGA intron-variant
rs1251331 -- 220,123,116(+) TTAGA(C/T)TTATT intron-variant

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

Relevant External Links for IARS2 Gene

HapMap Linkage Disequilibrium report
IARS2
Human Gene Mutation Database (HGMD)
IARS2

Disorders for IARS2 Gene

UniProtKB/Swiss-Prot

SYIM_HUMAN
  • 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)
IARS2
Human Genome Epidemiology (HuGE) Navigator
IARS2
genes like me logo Genes that share disorders with IARS2: view

Publications for IARS2 Gene

  1. 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 49
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for IARS2 Gene

Sources for IARS2 Gene

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