Human Gene VARS2 (ENST00000321897.9) from GENCODE V44
  Description: Homo sapiens valyl-tRNA synthetase 2, mitochondrial (VARS2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001167734)
RefSeq Summary (NM_001167734): 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].
Gencode Transcript: ENST00000321897.9
Gencode Gene: ENSG00000137411.19
Transcript (Including UTRs)
   Position: hg38 chr6:30,914,205-30,926,459 Size: 12,255 Total Exon Count: 29 Strand: +
Coding Region
   Position: hg38 chr6:30,914,837-30,926,210 Size: 11,374 Coding Exon Count: 29 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:30,914,205-30,926,459)mRNA (may differ from genome)Protein (1063 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYVM_HUMAN
DESCRIPTION: RecName: Full=Valine--tRNA ligase, mitochondrial; EC=6.1.1.9; AltName: Full=Valyl-tRNA synthetase; Short=ValRS; AltName: Full=Valyl-tRNA synthetase-like; Flags: Precursor;
CATALYTIC ACTIVITY: ATP + L-valine + tRNA(Val) = AMP + diphosphate + L-valyl-tRNA(Val).
SUBCELLULAR LOCATION: Mitochondrion (Potential).
SIMILARITY: Belongs to the class-I aminoacyl-tRNA synthetase family.
SEQUENCE CAUTION: Sequence=BAB15191.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB67778.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAD92716.1; Type=Miscellaneous discrepancy; Note=The sequence differs from that shown because it seems to be derived from a pre-mRNA; Sequence=CAM24842.1; Type=Erroneous gene model prediction; Sequence=CAM25404.1; Type=Erroneous gene model prediction; Sequence=CAQ06763.1; Type=Erroneous gene model prediction; Sequence=CAQ09774.1; Type=Erroneous gene model prediction; Sequence=CAQ10925.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: VARS2
Diseases sorted by gene-association score: combined oxidative phosphorylation deficiency 20* (1691)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 40.04 RPKM in Brain - Cerebellum
Total median expression: 637.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -276.10632-0.437 Picture PostScript Text
3' UTR -79.50249-0.319 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001412 - aa-tRNA-synth_I_CS
IPR002300 - aa-tRNA-synth_Ia
IPR014729 - Rossmann-like_a/b/a_fold
IPR009080 - tRNAsynth_1a_anticodon-bd
IPR013155 - V/L/I-tRNA-synth_anticodon-bd
IPR009008 - Val/Leu/Ile-tRNA-synth_edit
IPR002303 - Valyl-tRNA_ligase

Pfam Domains:
PF08264 - Anticodon-binding domain of tRNA
PF00133 - tRNA synthetases class I (I, L, M and V)

ModBase Predicted Comparative 3D Structure on Q5ST30
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0002161 aminoacyl-tRNA editing activity
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004832 valine-tRNA ligase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016874 ligase activity

Biological Process:
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006438 valyl-tRNA aminoacylation

Cellular Component:
GO:0005739 mitochondrion
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AB209479 - Homo sapiens premature mRNA for VARS2L protein variant.
AB067472 - Homo sapiens mRNA for KIAA1885 protein.
LF385188 - JP 2014500723-A/192691: Polycomb-Associated Non-Coding RNAs.
MA620765 - JP 2018138019-A/192691: Polycomb-Associated Non-Coding RNAs.
AK303415 - Homo sapiens cDNA FLJ56191 complete cds, highly similar to Homo sapiens valyl-tRNA synthetase like (VARSL), mRNA.
AK293780 - Homo sapiens cDNA FLJ59483 complete cds, highly similar to Homo sapiens valyl-tRNA synthetase like (VARSL), mRNA.
LF210803 - JP 2014500723-A/18306: Polycomb-Associated Non-Coding RNAs.
MA446380 - JP 2018138019-A/18306: Polycomb-Associated Non-Coding RNAs.
JD464152 - Sequence 445176 from Patent EP1572962.
AK294451 - Homo sapiens cDNA FLJ53779 complete cds, highly similar to Homo sapiens valyl-tRNA synthetase like (VARSL), mRNA.
AK000511 - Homo sapiens cDNA FLJ20504 fis, clone KAT09455, highly similar to SYV_FUGRU VALYL-TRNA SYNTHETASE.
AK304807 - Homo sapiens cDNA FLJ55611 complete cds, highly similar to Homo sapiens valyl-tRNA synthetase like (VARSL), mRNA.
BC143535 - Homo sapiens cDNA clone IMAGE:9052044.
BC113605 - Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA clone MGC:142165 IMAGE:8322657), complete cds.
BC112054 - Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA clone MGC:138259 IMAGE:8327522), complete cds.
BC143534 - Homo sapiens cDNA clone IMAGE:9052043.
BC143536 - Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA clone MGC:177062 IMAGE:9052045), complete cds.
AB384648 - Synthetic construct DNA, clone: pF1KA1885, Homo sapiens KIAA1885 gene for valyl-tRNA synthetase 2-like protein, complete cds, without stop codon, in Flexi system.
LF341292 - JP 2014500723-A/148795: Polycomb-Associated Non-Coding RNAs.
MA576869 - JP 2018138019-A/148795: Polycomb-Associated Non-Coding RNAs.
LF341291 - JP 2014500723-A/148794: Polycomb-Associated Non-Coding RNAs.
MA576868 - JP 2018138019-A/148794: Polycomb-Associated Non-Coding RNAs.
JD223245 - Sequence 204269 from Patent EP1572962.
AK125069 - Homo sapiens cDNA FLJ43079 fis, clone BRTHA3016917.
BC009355 - Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA clone IMAGE:4298611), partial cds.
AK315733 - Homo sapiens cDNA, FLJ96840, highly similar to Homo sapiens valyl-tRNA synthetase 2-like (VARS2L), mRNA.
JD103400 - Sequence 84424 from Patent EP1572962.
BC063427 - Homo sapiens valyl-tRNA synthetase like, mRNA (cDNA clone IMAGE:5241568).
JD080724 - Sequence 61748 from Patent EP1572962.
JD399669 - Sequence 380693 from Patent EP1572962.
BC073838 - Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA clone IMAGE:4938443), partial cds.
JD438650 - Sequence 419674 from Patent EP1572962.
AK025618 - Homo sapiens cDNA: FLJ21965 fis, clone HEP05617.
CU679315 - Synthetic construct Homo sapiens gateway clone IMAGE:100018380 5' read VARS2 mRNA.
BC008844 - Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA clone IMAGE:4299851), partial cds.
AK026063 - Homo sapiens cDNA: FLJ22410 fis, clone HRC08422.
AL122037 - Homo sapiens mRNA; cDNA DKFZp434L1435 (from clone DKFZp434L1435); partial cds.
AK094483 - Homo sapiens cDNA FLJ37164 fis, clone BRACE2027221, weakly similar to VALYL-TRNA SYNTHETASE (EC 6.1.1.9).
JD205783 - Sequence 186807 from Patent EP1572962.
JD385832 - Sequence 366856 from Patent EP1572962.
JD066941 - Sequence 47965 from Patent EP1572962.
JD165661 - Sequence 146685 from Patent EP1572962.
JD223569 - Sequence 204593 from Patent EP1572962.
JD142518 - Sequence 123542 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00290 - Valine, leucine and isoleucine biosynthesis
hsa00970 - Aminoacyl-tRNA biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q5ST30 (Reactome details) participates in the following event(s):

R-HSA-380199 valine + tRNA(Val) + ATP => Val-tRNA(Val) + AMP + pyrophosphate
R-HSA-379726 Mitochondrial tRNA aminoacylation
R-HSA-379724 tRNA Aminoacylation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A2ABL7, ENST00000321897.1, ENST00000321897.2, ENST00000321897.3, ENST00000321897.4, ENST00000321897.5, ENST00000321897.6, ENST00000321897.7, ENST00000321897.8, KIAA1885, NM_001167734, Q2M2A0, Q59FI1, Q5SQ96, Q5SS98, Q5ST30, Q6DKJ5, Q6ZV24, Q96GN2, Q96H77, Q96Q02, Q9H6R2, Q9UFH7, SYVM_HUMAN, uc003nsc.1, uc003nsc.2, uc003nsc.3, VARS2L, VARSL
UCSC ID: ENST00000321897.9
RefSeq Accession: NM_001167734
Protein: Q5ST30 (aka SYVM_HUMAN)
CCDS: CCDS34387.1, CCDS54980.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.