This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSe... See more...

Aliases for MARS2 Gene

Aliases for MARS2 Gene

  • Methionyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Methionine TRNA Ligase 2, Mitochondrial 2 3
  • Methionine--TRNA Ligase, Mitochondrial 3 4
  • EC 6.1.1.10 4 52
  • MtMetRS 3 4
  • Methionine-TRNA Synthetase 2, Mitochondrial 3
  • Mitochondrial Methionyl-TRNA Synthetase 4
  • Methionyl-TRNA Synthetase 2 4
  • Methionine--TRNA Ligase 2 3
  • EC 6.1.1 52
  • COXPD25 3
  • MetRS 3

External Ids for MARS2 Gene

Previous GeneCards Identifiers for MARS2 Gene

  • GC02P198396
  • GC02P198278
  • GC02P198570
  • GC02P190422

Summaries for MARS2 Gene

Entrez Gene Summary for MARS2 Gene

  • This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]

GeneCards Summary for MARS2 Gene

MARS2 (Methionyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with MARS2 include Combined Oxidative Phosphorylation Deficiency 25 and Spastic Ataxia 3, Autosomal Recessive. Among its related pathways are tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleotide binding and methionine-tRNA ligase activity. An important paralog of this gene is MARS1.

Additional gene information for MARS2 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 MARS2 Gene

Genomics for MARS2 Gene

GeneHancer (GH) Regulatory Elements for MARS2 Gene

Promoters and enhancers for MARS2 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
GH02J197704 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 500.7 +1.3 1325 4.7 ZBTB40 EP300 CTCF SIN3A TCF12 NRF1 MYC USF1 POLR2G SP1 MARS2 lnc-BOLL-1 piR-36682 PLCL1 SF3B1 RFTN2 ENSG00000222017
GH02J197613 Enhancer 1.2 Ensembl ENCODE 11.1 -91.1 -91103 2.8 EP300 FOXK2 ZNF217 CTCF TCF12 NCOR1 KDM6A CLOCK TCF7 FOXA1 SF3B1 MARS2 ANKRD44 PLCL1 piR-39488-170 piR-48813-010 RFTN2
GH02J198126 Enhancer 0.6 Ensembl 10.6 +422.4 422395 0.6 CTCF REST RAD21 TRIM22 SMC3 MXI1 ZNF316 ZNF263 MAFK ZNF592 PLCL1 MARS2 BOLL piR-57134-073 ENSG00000237035
GH02J197657 Enhancer 0.6 Ensembl 10.8 -47.6 -47603 1 FOXK2 FOXA1 TEAD1 FOXA2 FOXP1 THAP11 HMG20A ARID3A GATAD2A EP300 PLCL1 MARS2 SF3B1 RFTN2 ENSG00000287858
GH02J197619 Enhancer 0.3 Ensembl 11.1 -85.1 -85103 1.6 USF1 piR-31162-286 piR-39488-170 piR-54592-174 MARS2 ANKRD44 ENSG00000287858 RFTN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MARS2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MARS2

Top Transcription factor binding sites by QIAGEN in the MARS2 gene promoter:
  • AREB6
  • c-Myb
  • C/EBPalpha
  • MIF-1
  • NRF-2
  • NRSF form 1
  • NRSF form 2
  • SRY
  • USF-1
  • USF1

Genomic Locations for MARS2 Gene

Genomic Locations for MARS2 Gene
chr2:197,705,304-197,708,395
(GRCh38/hg38)
Size:
3,092 bases
Orientation:
Plus strand
chr2:198,570,028-198,573,114
(GRCh37/hg19)
Size:
3,087 bases
Orientation:
Plus strand

Genomic View for MARS2 Gene

Genes around MARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MARS2 Gene

Proteins for MARS2 Gene

  • Protein details for MARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GW9-SYMM_HUMAN
    Recommended name:
    Methionine--tRNA ligase, mitochondrial
    Protein Accession:
    Q96GW9
    Secondary Accessions:
    • A0AVC3
    • Q76E79
    • Q8IW62
    • Q8N7N4

    Protein attributes for MARS2 Gene

    Size:
    593 amino acids
    Molecular mass:
    66591 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH09115.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH40934.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for MARS2 Gene

Selected DME Specific Peptides for MARS2 Gene

Q96GW9:
  • IGKDILKFH
  • GQKMSKS
  • ELADALGGLLNRCTA
  • CVRQTNGFVQRHAPWKL
  • RYFLLRQGVP
  • MSKSLGN
  • IYVWLDAL
  • TGTDEHG
  • HIIGKDI

Post-translational modifications for MARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MARS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MARS2 Gene

Gene Families for MARS2 Gene

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

Protein Domains for MARS2 Gene

Blocks:
  • Aminoacyl-tRNA synthetase, class Ia
  • Methionyl-tRNA synthetase signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MARS2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51339, highly similar to Methionyl-tRNA synthetase, mitochondrial (EC 6.1.1.10) (B4DVV7_HUMAN)
  • Mitochondrial methionine--tRNA ligase (SYMM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96GW9

UniProtKB/Swiss-Prot:

SYMM_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 MARS2: view

Function for MARS2 Gene

Molecular function for MARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met); Xref=Rhea:RHEA:13481, Rhea:RHEA-COMP:9667, Rhea:RHEA-COMP:9698, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57844, ChEBI:CHEBI:78442, ChEBI:CHEBI:78530, ChEBI:CHEBI:456215; EC=6.1.1.10; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=18 uM for Met {ECO:0000269 PubMed:15274629}; KM=85 uM for ATP {ECO:0000269 PubMed:15274629}; KM=2.1 uM for tRNA-Met {ECO:0000269 PubMed:15274629}; pH dependence: Optimum pH is 7.8-8.2. {ECO:0000269 PubMed:15274629};

Enzyme Numbers (IUBMB) for MARS2 Gene

Phenotypes From GWAS Catalog for MARS2 Gene

Gene Ontology (GO) - Molecular Function for MARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004825 methionine-tRNA ligase activity TAS,IBA --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with MARS2: view
genes like me logo Genes that share phenotypes with MARS2: view

Human Phenotype Ontology for MARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MARS2 Gene

MGI Knock Outs for MARS2:
  • Mars2 Mars2<tm1.1(KOMP)Vlcg>

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for MARS2 Gene

Localization for MARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARS2 Gene

Mitochondrion matrix.

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 MARS2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MARS2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MARS2 Gene

Pathways & Interactions for MARS2 Gene

genes like me logo Genes that share pathways with MARS2: view

Pathways by source for MARS2 Gene

1 BioSystems pathway for MARS2 Gene

Gene Ontology (GO) - Biological Process for MARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006431 methionyl-tRNA aminoacylation IBA,IDA 15274629
genes like me logo Genes that share ontologies with MARS2: view

No data available for SIGNOR curated interactions for MARS2 Gene

Drugs & Compounds for MARS2 Gene

(5) Drugs for MARS2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methionine Approved Nutra Enzyme, substrate 114
Phosphoric acid Approved Pharma 0
Selenomethionine Approved, Investigational Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for MARS2 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 MARS2: view

Transcripts for MARS2 Gene

mRNA/cDNA for MARS2 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MARS2 Gene

No ASD Table

Relevant External Links for MARS2 Gene

GeneLoc Exon Structure for
MARS2

Expression for MARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MARS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MARS2 Gene

This gene is overexpressed in Adrenal (18.1), Breast (16.6), and Pancreas (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MARS2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MARS2

SOURCE GeneReport for Unigene cluster for MARS2 Gene:

Hs.744330

Evidence on tissue expression from TISSUES for MARS2 Gene

  • Nervous system(4.3)
  • Intestine(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MARS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • lip
  • middle ear
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • rib
  • rib cage
  • sternum
Pelvis:
  • urethra
  • urinary bladder
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with MARS2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MARS2 Gene

Orthologs for MARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MARS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MARS2 30
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia MARS2 31 30
  • 88.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MARS2 31 30
  • 87.16 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911305 30
  • 84.07 (n)
mouse
(Mus musculus)
Mammalia Mars2 17 31 30
  • 83.56 (n)
oppossum
(Monodelphis domestica)
Mammalia MARS2 31
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MARS2 31
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves MARS2 31 30
  • 64.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MARS2 31
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488527 30
  • 55.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68850 30
zebrafish
(Danio rerio)
Actinopterygii LOC566565 30
  • 59.17 (n)
MARS2 31
  • 56 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3692 30
fruit fly
(Drosophila melanogaster)
Insecta Aats-met 31 30
  • 54.25 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002383 30
  • 52.93 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y105E8A.20 30
  • 49.8 (n)
Y105E8A.20 31
  • 44 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL133W 30
  • 47.2 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F14971g 30
  • 46.64 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSM1 33 31 30
  • 46.27 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons OVA1 30
  • 46.4 (n)
rice
(Oryza sativa)
Liliopsida Os03g0209600 30
  • 46.85 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03759 30
  • 48.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC27E2.06c 30
  • 45.82 (n)
Species where no ortholog for MARS2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MARS2 Gene

ENSEMBL:
Gene Tree for MARS2 (if available)
TreeFam:
Gene Tree for MARS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MARS2: view image

Paralogs for MARS2 Gene

Paralogs for MARS2 Gene

genes like me logo Genes that share paralogs with MARS2: view

Variants for MARS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MARS2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
638360 Uncertain Significance: Ataxia, spastic, 3, autosomal recessive 197,706,204(+) C/T MISSENSE_VARIANT
638464 Uncertain Significance: Ataxia, spastic, 3, autosomal recessive 197,705,746(+) G/T MISSENSE_VARIANT
681427 Likely Benign: not provided 197,705,498(+) G/T SYNONYMOUS_VARIANT
718990 Likely Benign: not provided 197,706,599(+) G/A SYNONYMOUS_VARIANT
724135 Likely Benign: not provided 197,705,600(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MARS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MARS2 Gene

Variant ID Type Subtype PubMed ID
nsv821871 CNV gain 20364138

Variation tolerance for MARS2 Gene

Residual Variation Intolerance Score: 25.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MARS2 Gene

Human Gene Mutation Database (HGMD)
MARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MARS2 Gene

Disorders for MARS2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for MARS2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYMM_HUMAN
  • Spastic ataxia 3, autosomal recessive (SPAX3) [MIM:611390]: A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning. {ECO:0000269 PubMed:22448145}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Combined oxidative phosphorylation deficiency 25 (COXPD25) [MIM:616430]: A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss. {ECO:0000269 PubMed:25754315}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MARS2

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 MARS2: view

No data available for Genatlas for MARS2 Gene

Publications for MARS2 Gene

  1. Characterization of the human mitochondrial methionyl-tRNA synthetase. (PMID: 15274629) Spencer AC … Spremulli LL (Biochemistry 2004) 2 3 4 23 26 54
  2. Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. (PMID: 25754315) Webb BD … Schadt EE (Human mutation 2015) 3 4 54
  3. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. (PMID: 22448145) Bayat V … Bellen HJ (PLoS biology 2012) 3 4 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54

Products for MARS2 Gene

Sources for MARS2 Gene