Free for academic non-profit institutions. Other users need a Commercial license
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 51
- 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
External Ids for VARS2 Gene
- HGNC: 21642
- Entrez Gene: 57176
- Ensembl: ENSG00000137411
- OMIM: 612802
- UniProtKB: Q5ST30
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
Summaries 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 VARS1.
Additional gene information for VARS2 Gene
- HGNC(21642)
- Entrez Gene(57176)
- Ensembl(ENSG00000137411)
- OMIM(612802)
- UniProtKB(Q5ST30)
- Open Targets Platform(ENSG00000137411)
- Monarch Initiative
- Search for VARS2 at DataMed
- Search for VARS2 at HumanCyc
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
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
Genomic Locations for VARS2 Gene
- chr6:30,914,205-30,926,459
- (GRCh38/hg38)
- Size:
- 12,255 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:
-
- 6p21.33 by HGNC
- 6p21.33 by Entrez Gene
- 6p21.33 by Ensembl
VARS2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for VARS2 Gene
Proteins for VARS2 Gene
-
Protein details for VARS2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5ST30-SYVM_HUMAN
- Recommended name:
- Valine--tRNA ligase, mitochondrial
- Protein Accession:
- Q5ST30
- 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};
Protein Expression for VARS2 Gene
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
Other Protein References for VARS2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-VARS2 polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for VARS2
- Novus Biologicals Antibodies for VARS2
- Invitrogen Antibodies for VARS2 (AFLGC-VARS2)
-
Biorbyt antibodies for VARS2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for VARS2
- Origene Custom Protein Services for VARS2
- antibodies-online: Show 3 available VARS2 Proteins ranked by validation data
- Compare Top VARS2 Proteins
-
Quality Products:
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
- 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- Family:
-
- Belongs to the class-I aminoacyl-tRNA synthetase family.
Function for VARS2 Gene
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
| 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 | -- |
Phenotypes for VARS2 Gene
- MGI mutant phenotypes for VARS2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for VARS2:
Animal Model Products
-
Taconic Biosciences Mouse Models for VARS2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for VARS2 - Select products 50% OFF >
- * VARS2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for VARS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for VARS2
-
Santa Cruz Biotechnology (SCBT) CRISPR for VARS2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for VARS2
- Browse OriGene Inhibitory RNA Products For VARS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VARS2
Clone Products
- Applied Biological Materials (abm): Clones for VARS2 - Select products 50% OFF >
- * VARS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG219019
- MR219019
- MR219019L3
- MR219019L4
- RC211310
- RC211310L3
- RC211310L4
- RC230585
- RC230585L3
- RC230585L4
- RC230647
- RC230647L3
- RC230647L4
- RG211310
- RG230585
- RG230647
- RR206349
- RR206349L3
- RR206349L4
- MR219019L3V
- MR219019L4V
- RC211310L3V
- RC211310L4V
- RC230585L3V
- RC230585L4V
- RC230647L3V
- RC230647L4V
- RR206349L3V
- RR206349L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for VARS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for VARS2
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 4 |
| cytosol | 4 |
| nucleus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Mitochondria (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005829 | cytosol | IBA | 21873635 |
Pathways & Interactions for VARS2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA Aminoacylation | ||
| 2 | Gene Expression |
.48
|
|
Pathways by source for VARS2 Gene
3 Reactome pathways for VARS2 Gene
1 KEGG pathway for VARS2 Gene
Interacting Proteins for VARS2 Gene
Selected Interacting proteins:
Q5ST30-SYVM_HUMAN
ENSP00000441000
for VARS2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for VARS2
| 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 | -- |
No data available for SIGNOR curated interactions for VARS2 Gene
Drugs & Compounds for VARS2 Gene
| 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 |
|
Transcripts for VARS2 Gene
mRNA/cDNA for VARS2 Gene
- 3 REFSEQ mRNAs :
- 22 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000321897 4073 nts (view in UCSC)
- ENST00000421263 460 nts (view in UCSC)
- ENST00000428017 1103 nts (view in UCSC)
- ENST00000467717 863 nts (view in UCSC)
- ENST00000469358 3429 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for VARS2 - Select products 50% OFF >
- * VARS2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for VARS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for VARS2
-
Santa Cruz Biotechnology (SCBT) CRISPR for VARS2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for VARS2
- Browse OriGene Inhibitory RNA Products For VARS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VARS2
Clone Products
- Applied Biological Materials (abm): Clones for VARS2 - Select products 50% OFF >
- * VARS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG219019
- MR219019
- MR219019L3
- MR219019L4
- RC211310
- RC211310L3
- RC211310L4
- RC230585
- RC230585L3
- RC230585L4
- RC230647
- RC230647L3
- RC230647L4
- RG211310
- RG230585
- RG230647
- RR206349
- RR206349L3
- RR206349L4
- MR219019L3V
- MR219019L4V
- RC211310L3V
- RC211310L4V
- RC230585L3V
- RC230585L4V
- RC230647L3V
- RC230647L4V
- RR206349L3V
- RR206349L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for VARS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for VARS2
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VARS2
SOURCE GeneReport for Unigene cluster for VARS2 Gene:
Hs.597526Evidence on tissue expression from TISSUES for VARS2 Gene
- Nervous system(4.9)
- Skin(4.3)
- Eye(4.1)
- Muscle(2.3)
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
Primer Products
-
OriGene qPCR primer pairs for VARS2
-
OriGene qPCR primer pairs and template standards for VARS2
Gene Expression Assay Products
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.
| 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 |
- 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
Paralogs for VARS2 Gene
Variants for VARS2 Gene
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 |
|---|---|---|---|---|---|
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VARS2 Gene
Disorders for VARS2 Gene
(11) MalaCards diseases for VARS2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
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
- Open Targets Platform
No data available for Genatlas for VARS2 Gene
Publications for VARS2 Gene
- 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
- VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. (PMID: 24827421) Diodato D … Ghezzi D (Human mutation 2014) 3 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
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
- 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 41
ExternalLinks
Products for VARS2 Gene
- Custom Antibody ServicesOriGene Antibodies for VARS2
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for VARS2
- Origene Custom Protein Services for VARS2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for VARS2
- Browse OriGene Inhibitory RNA Products For VARS2
- OriGene qPCR primer pairs for VARS2
- OriGene qPCR primer pairs and template standards for VARS2
- OriGene CRISPR knockouts for VARS2
- MG219019
- MR219019
- MR219019L3
- MR219019L4
- RC211310
- RC211310L3
- RC211310L4
- RC230585
- RC230585L3
- RC230585L4
- RC230647
- RC230647L3
- RC230647L4
- RG211310
- RG230585
- RG230647
- RR206349
- RR206349L3
- RR206349L4
- MR219019L3V
- MR219019L4V
- RC211310L3V
- RC211310L4V
- RC230585L3V
- RC230585L4V
- RC230647L3V
- RC230647L4V
- RR206349L3V
- RR206349L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For VARS2
- Sino Biological Human cDNA Clone for VARS2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for VARS2
- Novus Biologicals proteins and lysates for VARS2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Taconic Biosciences Mouse Models for VARS2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for VARS2 (AFLGC-VARS2)
- VectorBuilder Custom and pre-made DNA vectors for VARS2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for VARS2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for VARS2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for VARS2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for VARS2
- antibodies-online: Show 17 available VARS2 Antibodies ranked by validation data
- Compare Top VARS2 Antibodies
- antibodies-online: Search results for available VARS2 related products ranked by validation data
- antibodies-online: Show 3 available VARS2 Proteins ranked by validation data
- Compare Top VARS2 Proteins
- Quality Products:
- Horizon Cell Lines for VARS2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for VARS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for VARS2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for VARS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VARS2
- Biorbyt antibodies for VARS2
Sources for VARS2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB