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Aliases for IARS2 Gene

Aliases for IARS2 Gene

  • Isoleucyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Isoleucine TRNA Ligase 2, Mitochondrial 2 3
  • EC 6.1.1.5 4 61
  • ILERS 3 4
  • Isoleucine-TRNA Synthetase 2, Mitochondrial 3
  • Isoleucyl-TRNA Synthetase, Mitochondrial 3
  • Mitochondrial Isoleucine TRNA Synthetase 3
  • Isoleucine--TRNA Ligase, Mitochondrial 3
  • Isoleucyl-TRNA Synthetase 4
  • EC 6.1.1 61
  • 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 Neuropathy. Among its related pathways are tRNA Aminoacylation and Gene Expression. 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 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
GH01F220158 0.4 ENCODE 12.6 +65.5 65453 1.7 IARS2 MIR194-1 MIR215 EPRS RAB3GAP2 GC01P220165 RPS15AP12
GH01F220092 1 ENCODE 0.8 +0.1 102 2.5 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GLIS2 ELK1 EPRS GC01M220094 IARS2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000553342 298 2001 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 GLIS2 KLF13 SP3 SP5

Genomic Location for IARS2 Gene

Chromosome:
1
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

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:
    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

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

Q9NSE4

UniProtKB/Swiss-Prot:

SYIM_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 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:0000049 tRNA binding IEA --
GO:0000166 nucleotide binding IEA --
GO:0002161 aminoacyl-tRNA editing activity IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004822 isoleucine-tRNA ligase activity TAS --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

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

Selected Interacting proteins: Q9NSE4-SYIM_HUMAN for IARS2 Gene via IID

Gene Ontology (GO) - Biological Process for IARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006428 isoleucyl-tRNA aminoacylation IBA --
GO:0006450 regulation of translational fidelity IEA --
genes like me logo Genes that share ontologies with IARS2: view

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
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

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, MaxQB, and MOPED for IARS2 Gene



Protein tissue co-expression partners for IARS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IARS2 Gene:

IARS2

SOURCE GeneReport for Unigene cluster for IARS2 Gene:

Hs.262823
genes like me logo Genes that share expression patterns with IARS2: view

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
chimpanzee
(Pan troglodytes)
Mammalia IARS2 34 35
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia IARS2 34 35
  • 89.43 (n)
cow
(Bos Taurus)
Mammalia IARS2 34 35
  • 88.7 (n)
mouse
(Mus musculus)
Mammalia Iars2 34 16 35
  • 81.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IARS2 35
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iars2 34
  • 76.38 (n)
oppossum
(Monodelphis domestica)
Mammalia IARS2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves IARS2 34 35
  • 73.83 (n)
lizard
(Anolis carolinensis)
Reptilia IARS2 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iars2 34
  • 67.32 (n)
zebrafish
(Danio rerio)
Actinopterygii iars2 34 35
  • 61.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5414 34 35
  • 49.82 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003156 34
  • 48.42 (n)
worm
(Caenorhabditis elegans)
Secernentea iars-2 34 35
  • 46.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISM1 34 35
  • 49.8 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11858g 34
  • 49.75 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL247C 34
  • 47.04 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons OVA2 34
  • 50.83 (n)
rice
(Oryza sativa)
Liliopsida Os02g0778200 34
  • 52.06 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC18B5.08c 34
  • 49.16 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00920 34
  • 47.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToOne
Species where no ortholog for IARS2 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 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
rs587783070 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007], Pathogenic 220,143,109(+) AGAAC(C/T)TGGAC reference, missense
rs143722284 Pathogenic 220,137,990(+) TCACC(A/G)AAGTT reference, missense
rs373436822 Pathogenic 220,126,827(+) TCATG(A/G)TCTTA reference, stop-gained
rs146236436 Uncertain significance 220,103,447(+) GTTAG(A/G/T)TATGC reference, synonymous-codon, missense
rs182541053 Uncertain significance 220,105,975(+) GACCA(C/T)GGCAA reference, missense

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

Variant ID Type Subtype PubMed ID
dgv268n106 CNV deletion 24896259
esv2107700 CNV deletion 18987734
esv2663970 CNV deletion 23128226
esv2665152 CNV deletion 23128226
esv2676354 CNV deletion 23128226
esv2723162 CNV deletion 23290073
esv3546999 CNV deletion 23714750
esv3547011 CNV deletion 23714750
esv3547022 CNV deletion 23714750
esv3588893 CNV loss 21293372
esv3588894 CNV loss 21293372
nsv1068500 CNV deletion 25765185
nsv832636 CNV loss 17160897
nsv945295 CNV duplication 23825009
nsv945296 CNV duplication 23825009
nsv947468 CNV deletion 23825009
nsv954222 CNV deletion 24416366

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)
IARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IARS2

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

Disorders for IARS2 Gene

MalaCards: The human disease database

(10) 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
neuropathy
  • peripheral neuropathy
cataract
peripheral nervous system disease
  • peripheral nerve disease
ayme-gripp syndrome
  • cataract
- elite association - COSMIC cancer census association via MalaCards
Search IARS2 in MalaCards View complete list of genes associated with diseases

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IARS2
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 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. 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 46 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for IARS2 Gene

Sources for IARS2 Gene

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