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VARS2 Gene(Protein Coding)

Valyl-TRNA Synthetase 2, Mitochondrial

GCID:
GC06P032482
GIFtS:
50
Genes Participants
UDN Logo

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 56
  • 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
  • KIAA1885 4
  • EC 6.1.1 56
  • COXPD20 3
  • VALRS 3
  • ValRS 4

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
  • GC06P030912
  • GC06P031041
  • GC06P031079
  • GC06P031223
  • GC06P031428
  • GC06P032069

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 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 VARS.

Additional gene information for VARS2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VARS2 Gene

Genomics for VARS2 Gene

GeneHancer (GH) Regulatory Elements for VARS2 Gene

Promoters and enhancers for VARS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J030913 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 648.2 +6.4 6399 2.9 SP1 CC2D1A ZFX CTCF ELF3 MNT CBFA2T2 NKRF POLR2A MLLT1 VARS2 DDX39B LSM2 LY6G5B TRIM39 NRM DHX16 MDC1 PPP1R10 ZNRD1
GH06J030907 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 648.4 +0.2 215 2.2 SP1 CC2D1A ELF3 ZKSCAN8 MNT SIX5 ZNF148 NKRF POLR2A MLLT1 GTF2H4 VARS2 GC06P032828 MDC1 DDX39B LY6G5B LSM2 TRIM39 PPP1R10 DHX16
GH06J030909 Promoter 0.5 EPDnew 600.7 +1.8 1759 0.1 GTF2H4 VARS2 DDR1 ENSG00000252761
GH06J030905 Enhancer 0.3 Ensembl 618 -2.0 -1955 1 ZNF512 VARS2 GC06P032828 GTF2H4 HLA-C DDR1 MIR4640
GH06J030875 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 59.9 -31.4 -31422 3.5 ZFX CC2D1A ELF3 CTCF ZKSCAN8 CBFA2T2 ZNF148 MLLT1 CEBPG GTF2F1 DDR1 DDR1-DT VARS2 DDX39B ABCF1 MDC1 ETF1P1 LSM2 NFKBIL1 TRIM39
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for VARS2 Gene
chr6:30,908,242-30,926,459
(GRCh38/hg38)
Size:
18,218 bases
Orientation:
Plus strand
chr6:30,876,019-30,894,236
(GRCh37/hg19)
Size:
18,218 bases
Orientation:
Plus strand

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

RefSeq DNA sequence for VARS2 Gene

Proteins for VARS2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB67778.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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 isoforms=474, posLast=477477, posLast=684684, and isoforms=454
  • 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

Blocks:
InterPro:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:0002161 aminoacyl-tRNA editing activity IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004832 valine-tRNA ligase activity IBA 21873635
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
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 Model Products

  • Taconic Biosciences Mouse Models for VARS2

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for VARS2 - Now 50% OFF >
  • * VARS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * VARS2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 3
nucleus 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

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
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
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

(4) Drugs for VARS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
L-Valine Approved Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 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
  • PYROphosphATE
 14000-31-8
genes like me logo Genes that share compounds with VARS2: view

Transcripts for VARS2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for VARS2 Gene

(3) REFSEQ mRNAs :
(22) Additional mRNA sequences :
(149) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for VARS2 Gene

Valyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for VARS2 - Now 50% OFF >
  • * VARS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * VARS2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
ECgene alternative splicing isoforms for
VARS2

Expression for VARS2 Gene

Products:

  1. Primer
  2. Gene Expression Assay
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

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

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

NURSA nuclear receptor signaling pathways regulating expression of VARS2 Gene:

VARS2

SOURCE GeneReport for Unigene cluster for VARS2 Gene:

Hs.597526

Evidence on tissue expression from TISSUES for VARS2 Gene

  • Nervous system(4.8)
  • Eye(4.1)
  • Skin(4)

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

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 35
  • 98 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia VARS2 35 34
  • 88.2 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia VARS2 35 34
  • 86.48 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Vars2 17 35 34
  • 84.36 (n)
rat
(Rattus norvegicus)
 Mammalia Vars2 34
  • 84.22 (n)
oppossum
(Monodelphis domestica)
 Mammalia VARS2 35
  • 74 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia VARS2 35
  • 67 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia VARS2 35
  • 56 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100493727 34
  • 57.92 (n)
zebrafish
(Danio rerio)
 Actinopterygii vars2 35 34
  • 57.4 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Aats-val 36
  • 61 (a)
CG5660 35 36
  • 37 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea vrs-2 36
  • 53 (a)
vrs-1 36
  • 38 (a)
vars-1 35
  • 34 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VAS1 35
  • 38 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 37 (a)
 OneToOne
Species where no ortholog for VARS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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

Products:

  1. SNP Genotyping and Copy Number Assay
VarElect - NGS phenotyper. Rapid prioritization of variants from NGS data powered by 100+ GeneCards sources

Sequence variations from dbSNP and Humsavar for VARS2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1043483 benign, not specified, not provided 30,925,951(+) C/T coding_sequence_variant, synonymous_variant
rs1264299 benign, not specified, not provided 30,916,143(+) C/T intron_variant
rs1264301 benign, not specified, not provided 30,915,004(+) G/A/C/T coding_sequence_variant, intron_variant, synonymous_variant
rs1264302 benign, not specified, not provided 30,914,857(+) C/T coding_sequence_variant, intron_variant, synonymous_variant
rs1264306 benign, not specified, not provided 30,914,426(+) T/C coding_sequence_variant, intron_variant, synonymous_variant

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

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for VARS2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for VARS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for VARS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. (PMID: 24827421) Diodato D … Ghezzi D (Human mutation 2014) 3 4 58
  3. 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 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 58
  5. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 45 58

ExternalLinks

View latest publications for VARS2 gene in Mastermind

Products for VARS2 Gene

Sources for VARS2 Gene

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