VARS2 Gene (Protein Coding)

Valyl-TRNA Synthetase 2, Mitochondrial

GC06P051937
GIFtS:
43
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. [provid... See more...

Aliases for VARS2 Gene

Aliases for VARS2 Gene

  • Valyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Valine--TRNA Ligase, Mitochondrial 3 4
  • Valyl-TRNA Synthetase Like 2 3
  • EC 6.1.1.9 4 50
  • KIAA1885 2 4
  • VARS2L 3 4
  • VARSL 3 4
  • Valyl-TRNA Synthetase 2, Mitochondrial (Putative) 2
  • Valine TRNA Ligase 2, Mitochondrial (Putative) 3
  • Valine TRNA Ligase 2, Mitochondrial 2
  • Valyl-TRNA Synthetase 2-Like 2
  • Valyl-TRNA Synthetase-Like 4
  • Valyl-TRNA Synthetase 4
  • DKFZP434L1435 2
  • EC 6.1.1 50
  • COXPD20 3
  • VALRS 3
  • VARS2 5
  • ValRS 4
  • G7a 2

External Ids for VARS2 Gene

Previous HGNC Symbols for VARS2 Gene

  • VARS2L
  • VARSL

Previous GeneCards Identifiers for VARS2 Gene

  • GC06M031816
  • GC06M031516
  • GC06M031851
  • GC06M031852
  • GC06M031853
  • GC06Pc31014
  • GC06P030992
  • GC06P030876
  • GC06P030682
  • GC06P030910
  • GC06P032290
  • GC06P032482
  • GC06P032588
  • GC06P033373
  • GC06P030912
  • GC06P031041
  • GC06P031079
  • GC06P031223
  • GC06P031428
  • GC06P032069
  • GC06P047290
  • GC06P049336

Summaries for VARS2 Gene

Entrez Gene Summary for VARS2 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 early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]

GeneCards Summary for VARS2 Gene

VARS2 (Valyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with VARS2 include Combined Oxidative Phosphorylation Deficiency 20 and Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy. 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.

Additional gene information for VARS2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VARS2 Gene

Genomics for VARS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for VARS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VARS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VARS2

Top Transcription factor binding sites by QIAGEN in the VARS2 gene promoter:
  • CREB
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • STAT1
  • STAT3

Genomic Locations for VARS2 Gene

Latest Assembly
chr6:30,914,205-30,926,459
(GRCh38/hg38)
Size:
12,255 bases
Orientation:
Plus strand

Previous Assembly
chr6:30,882,015-30,894,236
(GRCh37/hg19 by Entrez Gene)
Size:
12,222 bases
Orientation:
Plus strand

chr6:30,876,019-30,894,236
(GRCh37/hg19 by Ensembl)
Size:
18,218 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_2):2,393,984-2,406,057 (+)
  • chr6(ALT_REF_LOCI_3):2,170,542-2,182,776 (+)
  • chr6(ALT_REF_LOCI_4):2,224,474-2,236,697 (+)
  • chr6(ALT_REF_LOCI_5):2,258,385-2,270,615 (+)
  • chr6(ALT_REF_LOCI_6):2,169,404-2,181,636 (+)

Genomic View for VARS2 Gene

Genes around VARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VARS2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

Proteins for VARS2 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for VARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5ST30-SYVM_HUMAN
    Recommended name:
    Valine--tRNA ligase, mitochondrial
    Protein Accession:
    Q5ST30
    Secondary Accessions:
    • A2ABL7
    • B4DET4
    • B4E3P5
    • F5GXJ0
    • F5H323
    • Q2M2A0
    • Q59FI1
    • Q5SQ96
    • Q5SS98
    • Q6DKJ5
    • Q6ZV24
    • Q96GN2
    • Q96H77
    • Q96Q02
    • Q9H6R2
    • Q9UFH7

    Protein attributes for VARS2 Gene

    Size:
    1063 amino acids
    Molecular mass:
    118490 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15191.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB67778.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAD92716.1; Type=Miscellaneous discrepancy; Note=The sequence differs from that shown because it seems to be derived from a pre-mRNA.; Evidence={ECO:0000305};

    Alternative splice isoforms for VARS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VARS2 Gene

Protein Expression for VARS2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for VARS2 Gene

Q5ST30:
  • GTGAVKVTPAH
  • DWCVSRQ
  • AVAVHPDD
  • PPPNVTG
  • DALRFTL
  • LPGCPTPVSFGLL
  • GRKMSKS
  • LPFSKVLLH
  • RYTHLHG
  • SRQLWWGHQIPA
  • VIAEDGTMTSLCGDWLQGLHRFVAREKI
  • YVEAAWYPWW
  • DHAGIATQ
  • LDTWFSS
  • YMELQGLVDPQ
  • MVRDRQGRKMSKSLGNVLDPR
  • QWFVRCQEMG
  • GFFKPEY
  • GPPQVLFSCAD
  • LHIGHALT
  • SVAFPVDGEPD
  • MSKSLGN
  • LHIGHAL
  • GTDALRF
  • DVLDTWFS
  • GEKKDVS
  • SAISDIEV
  • AVTEAFVR

Post-translational modifications for VARS2 Gene

  • Ubiquitination at Lys54, Lys74, Lys684, and Lys477
  • Modification sites at PhosphoSitePlus

Other Protein References for VARS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for VARS2 Gene

Gene Families for VARS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for VARS2 Gene

InterPro:
Blocks:
  • Aminoacyl-tRNA synthetase, class Ia
  • tRNA synthetase, valyl/leucyl, anticodon-binding
  • Valyl-tRNA synthetase signature

Suggested Antigen Peptide Sequences for VARS2 Gene

GenScript: Design optimal peptide antigens:
  • Valyl-tRNA synthetase like (A2ABL6_HUMAN)
  • cDNA FLJ53779, highly similar to Homo sapiens valyl-tRNA synthetase like (VARSL), mRNA (B4DG77_HUMAN)
  • Valyl-tRNA synthetase like (B7ZCJ6_HUMAN)
  • VARS2 protein (B7ZL25_HUMAN)
  • Valyl-tRNA synthetase-like (SYVM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5ST30

UniProtKB/Swiss-Prot:

SYVM_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 VARS2: view

Function for VARS2 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for VARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-valine + tRNA(Val) = AMP + diphosphate + L-valyl-tRNA(Val); Xref=Rhea:RHEA:10704, Rhea:RHEA-COMP:9672, Rhea:RHEA-COMP:9708, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57762, ChEBI:CHEBI:78442, ChEBI:CHEBI:78537, ChEBI:CHEBI:456215; EC=6.1.1.9;.
GENATLAS Biochemistry:
valyl-tRNA synthetase 2,same as G7a,see HTFAG@

Enzyme Numbers (IUBMB) for VARS2 Gene

Phenotypes From GWAS Catalog for VARS2 Gene

Gene Ontology (GO) - Molecular Function for VARS2 Gene

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 IBA 21873635
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with VARS2: view
genes like me logo Genes that share phenotypes with VARS2: view

Human Phenotype Ontology for VARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for VARS2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VARS2

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for VARS2 Gene

Localization for VARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VARS2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VARS2 gene
Compartment Confidence
mitochondrion 4
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IBA 21873635
genes like me logo Genes that share ontologies with VARS2: view

Pathways & Interactions for VARS2 Gene

PathCards logo

SuperPathways for VARS2 Gene

genes like me logo Genes that share pathways with VARS2: view

Pathways by source for VARS2 Gene

1 KEGG pathway for VARS2 Gene

Gene Ontology (GO) - Biological Process for VARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA --
GO:0006438 valyl-tRNA aminoacylation IBA 21873635
GO:0106074 aminoacyl-tRNA metabolism involved in translational fidelity IEA --
genes like me logo Genes that share ontologies with VARS2: view

No data available for SIGNOR curated interactions for VARS2 Gene

Drugs & Compounds for VARS2 Gene

Products:

  1. Drug products for research

(4) Drugs for VARS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Valine Approved Nutra 43
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for VARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
 14000-31-8
genes like me logo Genes that share compounds with VARS2: view

Transcripts for VARS2 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for VARS2 Gene

3 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VARS2

Alternative Splicing Database (ASD) splice patterns (SP) for VARS2 Gene

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:

Relevant External Links for VARS2 Gene

GeneLoc Exon Structure for
VARS2

Expression for VARS2 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VARS2 Gene

mRNA expression in normal human tissues for VARS2 Gene
mRNA expression by BioGPS for VARS2 GenemRNA expression by GTEx for VARS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VARS2 Gene

This gene is overexpressed in Kidney (17.1) and Lymph node (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VARS2 Gene



Protein tissue co-expression partners for VARS2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VARS2

SOURCE GeneReport for Unigene cluster for VARS2 Gene:

Hs.597526

Evidence on tissue expression from TISSUES for VARS2 Gene

  • Nervous system(4.9)
  • Skin(4.3)
  • Eye(4.1)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VARS2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • skull
genes like me logo Genes that share expression patterns with VARS2: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for VARS2 Gene

Orthologs for VARS2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for VARS2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia VARS2 30
  • 98 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia VARS2 29 30
  • 88.2 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia VARS2 29 30
  • 86.48 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Vars2 29 16 30
  • 84.36 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Vars2 29
  • 84.22 (n)
Oppossum
(Monodelphis domestica)
 Mammalia VARS2 30
  • 74 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia VARS2 30
  • 67 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia VARS2 30
  • 56 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100493727 29
  • 57.92 (n)
Zebrafish
(Danio rerio)
 Actinopterygii vars2 29 30
  • 57.4 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Aats-val 31
  • 61 (a)
CG5660 30 31
  • 37 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea vrs-2 31
  • 53 (a)
vrs-1 31
  • 38 (a)
vars-1 30
  • 34 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VAS1 30
  • 38 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 37 (a)
 OneToOne
Species where no ortholog for VARS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for VARS2 Gene

ENSEMBL:
Gene Tree for VARS2 (if available)
TreeFam:
Gene Tree for VARS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VARS2: view image
Alliance of Genome Resources:
Additional Orthologs for VARS2

Paralogs for VARS2 Gene

Paralogs for VARS2 Gene

(1) SIMAP similar genes for VARS2 Gene using alignment to 4 proteins:

  • SYVM_HUMAN
  • A2ABL6_HUMAN
  • B7ZCJ6_HUMAN
  • B7ZL25_HUMAN
genes like me logo Genes that share paralogs with VARS2: view

Variants for VARS2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VARS2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1013497 Uncertain Significance: not provided 30,916,183(+) G/C
NM_020442.6(VARS2):c.605G>C (p.Arg202Pro) 		MISSENSE
1029201 Pathogenic: Combined oxidative phosphorylation deficiency 20 30,920,193(+) T/TA
NM_020442.6(VARS2):c.1270_1271insA (p.Ser424fs) 		FRAMESHIFT
1029202 Uncertain Significance: Combined oxidative phosphorylation deficiency 20 30,924,388(+) G/A
NM_020442.6(VARS2):c.2501G>A (p.Arg834His) 		MISSENSE
1029203 Likely Pathogenic: Combined oxidative phosphorylation deficiency 20 30,925,619(+) A/ACTGTGGGG
NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs) 		FRAMESHIFT
1029204 Uncertain Significance: Combined oxidative phosphorylation deficiency 20 30,925,923(+) G/A
NM_020442.6(VARS2):c.3005G>A (p.Arg1002Gln) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for VARS2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for VARS2 Gene

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

Variation tolerance for VARS2 Gene

Residual Variation Intolerance Score: 86.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.90; 98.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VARS2 Gene

Human Gene Mutation Database (HGMD)
VARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VARS2
Leiden Open Variation Database (LOVD)
VARS2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VARS2 Gene

Disorders for VARS2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for VARS2 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search VARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYVM_HUMAN
  • Combined oxidative phosphorylation deficiency 20 (COXPD20) [MIM:615917]: A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy. {ECO:0000269 PubMed:24827421, ECO:0000269 PubMed:25058219}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for VARS2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with VARS2: view

No data available for Genatlas for VARS2 Gene

Publications for VARS2 Gene

  1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4
  2. Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. (PMID: 29314548) Bruni F … Diodato D (Human mutation 2018) 3 72
  3. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. (PMID: 24827421) Diodato D … Ghezzi D (Human mutation 2014) 3 4
  4. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. (PMID: 25058219) Taylor RW … Chinnery PF (JAMA 2014) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40

ExternalLinks

View latest publications for VARS2 gene in Mastermind

Products for VARS2 Gene

Sources for VARS2 Gene