VARS2 (valyl-tRNA synthetase 2, mitochondrial)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57176
Gene name Gene Name - the full gene name approved by the HGNC.
Valyl-tRNA synthetase 2, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VARS2
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD20, VALRS, VARS2L, VARSL
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 e
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs139515727 C>T Likely-pathogenic Missense variant, coding sequence variant
rs202201763 G>A Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs587777583 G>A Pathogenic Missense variant, coding sequence variant
rs587777584 C>A Pathogenic Missense variant, coding sequence variant
rs587777585 C>G,T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT1482783 hsa-miR-1827 CLIP-seq
MIRT1482784 hsa-miR-3612 CLIP-seq
MIRT1482785 hsa-miR-650 CLIP-seq
MIRT1482786 hsa-miR-940 CLIP-seq
MIRT2659277 hsa-miR-2355-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002161 Function Aminoacyl-tRNA deacylase activity IEA
GO:0004812 Function Aminoacyl-tRNA ligase activity IEA
GO:0004832 Function Valine-tRNA ligase activity IBA
GO:0004832 Function Valine-tRNA ligase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612802 21642 ENSG00000137411
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q5ST30
Protein name Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (Valyl-tRNA synthetase) (ValRS) (Valyl-tRNA synthetase-like)
Protein function Catalyzes the attachment of valine to tRNA(Val) in a two-step reaction: valine is first activated by ATP to form Val-AMP and then transferred to the acceptor end of tRNA(Val).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00133 tRNA-synt_1 112 → 735 tRNA synthetases class I (I, L, M and V) Family
PF08264 Anticodon_1 779 → 932 Anticodon-binding domain of tRNA ligase Domain
Sequence 
MPHLPLASFRPPFWGLRHSRGLPRFHSVSTQSEPHGSPISRRNREAKQKRLREKQATLEA
EIAGESKSPAESIKAWRPKELVLYEIPTKPGEKKDVSGPLPPAYSPRYVEAAWYPWWVRE
GFFKPEYQARLPQATGETFSMCIPPPNVTGSLHIGHALTVAIQDALVRWHRMRGDQVLWV
PGSDHAGIATQAVVEKQLWKERGVRRHELSREAFLREVWQWKEAKGGEICEQLRALGASL
DWDRECFTMDVGSSVAVTEAFVRLYKAGLLYRNHQLVNWSCALRSAISDIEVENRPLPGH
TQLRLPGCPTPVSFGLLFSVAFPVDGEPDAEVVVGTTRPETLPGDVAVAVHPDDSRYTHL
HGRQLRHPLMGQPLPLITDYAVQPHVGTGAVKVTPAHSPADAEMGARHGLSPLNVIAEDG
TMTSLCGDWLQGLHRFVAREKIMSVLSEWGLFRGLQNHPMVLPICSRSGDVIEYLLKNQW
FVRCQEMGARAAKAVESGALELSPSFHQKNWQHWFSHIGDWCVSRQLWWGHQIPAYLVVE
DHAQGEEDCWVVGRSEAEAREVAAELTGRPGAELTLERDPDVLDTWFSSALFPFSALGWP
QETPDLARFYPLSLLETGSDLLLFWVGRMVMLGTQLTGQLPFSKVLLHPMVRDRQGRKMS
KSLGNVLDPRDIISGVEMQVLQEKLRSGNLDPAELAIVAAAQKKDFPHGIPECGTDALRF
TLCSHGVQAGDLHLSVSEVQSCRHFCNKIWNALRFILNALGEKFVPQPAEELSPSSPMDA
WILSRLALAAQECERGFLTRELSLVTHALHHFWLHNLCDVYLEAVKPVLWHSPRPLGPPQ
VLFSCADLGLRLLAPLMPFLAEELWQRLPPRPGCPPAPSISVAPYPSACSLEHWRQPELE
RRFSRVQEVVQVLRALRATYQLTKARPRVLLQSSEPGDQGLFEAFLEPLGTLGYCGAVGL
LPPGAAAPSGWAQAPLSDTAQVYMELQGLVDPQIQLPLLAARRYKLQKQLDSLTARTPSE
GEAGTQRQQKLSSLQLELSKLDKAASHLRQLMDEPPAPGSPEL
Sequence length 1063
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Aminoacyl-tRNA biosynthesis  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation defect type 20 rs587777583, rs587777584, rs587777585, rs775439829, rs1554268077, rs777028011 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hepatoencephalopathy hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 N/A N/A ClinVar
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Psoriasis Psoriasis N/A N/A GWAS
Show/Hide Text Mining Associations (42)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Associate 30458719
Acidosis Lactic Associate 30458719
Agenesis of Corpus Callosum Associate 31064326
Alcohol Related Disorders Associate 31623496
Arrhythmias Cardiac Associate 31623496
Arthritis Rheumatoid Associate 19116923
Ataxia Associate 29137650
Brain Diseases Associate 31623496
Cardiomyopathies Associate 29314548, 30458719
Cardiomyopathy Hypertrophic Associate 30458719