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This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]
VARS2 (Valyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with VARS2 include Combined Oxidative Phosphorylation Deficiency 20 and Combined Oxidative Phosphorylation Deficiency. 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.
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:0004832 | valine-tRNA ligase activity | IEA,IBA | 21873635 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005829 | cytosol | IBA | 21873635 |
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 | IEA,IBA | 21873635 |
GO:0006438 | valyl-tRNA aminoacylation | IEA,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 | |||
Valine | Approved | Nutra | 40 | |||
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 |
|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ | 14a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 14b | · | 14c |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: | |||
SP7: | |||
SP8: | |||
SP9: | |||
SP10: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | VARS2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | VARS2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | VARS2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Vars2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Vars2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | VARS2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | VARS2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | VARS2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100493727 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | vars2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Aats-val 32 |
|
|
|
CG5660 31 32 |
|
OneToOne | |||
Worm (Caenorhabditis elegans) |
Secernentea | vrs-2 32 |
|
|
|
vrs-1 32 |
|
|
|||
vars-1 31 |
|
OneToOne | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VAS1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638479 | Uncertain Significance: Combined oxidative phosphorylation deficiency 20 | 30,925,938(+) | A/G | MISSENSE_VARIANT | |
638480 | Uncertain Significance: Combined oxidative phosphorylation deficiency 20 | 30,914,940(+) | A/G | MISSENSE_VARIANT,INTRON_VARIANT | |
669589 | Benign: not provided | 30,916,478(+) | A/T | INTRON_VARIANT | |
669590 | Benign: not provided | 30,916,659(+) | A/G | INTRON_VARIANT | |
669591 | Benign: not provided | 30,918,044(+) | G/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2088436 | CNV | deletion | 18987734 |
esv2670269 | CNV | deletion | 23128226 |
esv2677874 | CNV | deletion | 23128226 |
esv2731791 | CNV | deletion | 23290073 |
esv3411275 | CNV | duplication | 20981092 |
esv3567511 | CNV | deletion | 23714750 |
esv3608518 | CNV | gain | 21293372 |
nsv1031677 | CNV | gain | 25217958 |
nsv1074389 | CNV | deletion | 25765185 |
nsv1122126 | CNV | deletion | 24896259 |
nsv1144137 | CNV | deletion | 24896259 |
nsv523346 | CNV | loss | 19592680 |
nsv525438 | CNV | gain | 19592680 |
nsv601264 | CNV | loss | 21841781 |
nsv601481 | CNV | loss | 21841781 |