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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]
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 Rare Disorder With Lens Opacification. 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 IARS1.
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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA,IDA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA Aminoacylation | ||
2 | Gene Expression |
.48
|
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 | 21873635 |
GO:0032543 | mitochondrial translation | IBA | 21873635 |
GO:0106074 | aminoacyl-tRNA metabolism involved in translational fidelity | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phosphoric acid | Approved | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
Isoleucine | Investigational | Nutra | Target | 30 | ||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IARS2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IARS2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IARS2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Iars2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IARS2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Iars2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | IARS2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IARS2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IARS2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | iars2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | iars2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5414 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003156 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | iars-2 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ISM1 30 31 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D11858g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL247C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | OVA2 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0778200 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC18B5.08c 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00920 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638568 | Pathogenic: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 220,143,003(+) | G/A | MISSENSE_VARIANT | |
638569 | Pathogenic: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 220,102,258(+) | T/C | MISSENSE_VARIANT | |
638570 | Pathogenic: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 220,141,838(+) | G/A | MISSENSE_VARIANT | |
638571 | Pathogenic: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 220,143,108(+) | C/T | MISSENSE_VARIANT | |
638572 | Pathogenic: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 220,139,114(+) | A/G | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
|
|
rare disorder with lens opacification |
|
|
cataract |
|
|
rare peripheral neuropathy |
|
|
peripheral nervous system disease |
|
|