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Aliases for MARS2 Gene

Aliases for MARS2 Gene

  • Methionyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Methionine TRNA Ligase 2, Mitochondrial 2 3
  • EC 6.1.1.10 4 56
  • MtMetRS 3 4
  • Methionine-TRNA Synthetase 2, Mitochondrial 3
  • Mitochondrial Methionyl-TRNA Synthetase 4
  • Methionine--TRNA Ligase, Mitochondrial 3
  • Methionyl-TRNA Synthetase 2 4
  • Methionine--TRNA Ligase 2 3
  • EC 6.1.1 56
  • 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 Gene Expression and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include nucleotide binding and methionine-tRNA ligase activity.

Additional gene information for MARS2 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 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
GH02I197704 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.6 563 3.2 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B MARS2 PIR59727 PLCL1 ENSG00000222017 GC02M197694
GH02I197615 Enhancer 0.6 ENCODE 11.1 -90.1 -90112 0.1 ELF3 CTCF PKNOX1 RNF2 SIN3A ELF1 RAD21 PRDM1 ZFX MARS2 GC02P197600 RFTN2
GH02I197660 Enhancer 0.2 FANTOM5 11.6 -44.5 -44467 0.4 MARS2 RFTN2 GC02P197600
GH02I197203 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.4 -494.0 -494019 15.7 HDGF PKNOX1 FOXA2 SMAD1 IRF4 YY1 TCF12 ATF7 RUNX3 RXRA ANKRD44 ANKRD44-IT1 LOC105373824 MOB4 COQ10B SF3B1 MARS2 HSPD1 LOC105373826 LOC101927596
GH02I198121 Enhancer 0.2 FANTOM5 10.6 +416.7 416691 0.2 PLCL1 MARS2 BOLL GC02M198022 GC02P198055
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MARS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MARS2 gene promoter:

Genomic Locations for MARS2 Gene

Genomic Locations for MARS2 Gene
chr2:197,705,304-197,708,390
(GRCh38/hg38)
Size:
3,087 bases
Orientation:
Plus strand
chr2:198,570,028-198,573,114
(GRCh37/hg19)

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=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH40934.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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

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 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};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met).

Enzyme Numbers (IUBMB) 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 --
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

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MARS2: view

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 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

(4) Drugs for MARS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Selenomethionine Approved, Investigational Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0

(2) Additional Compounds for MARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-Methionine
  • (2S)-2-amino-4-(methylsulfanyl)butanoate
  • (2S)-2-amino-4-(methylsulfanyl)butanoic acid
  • (L)-methionine
  • (S)-(+)-methionine
  • (S)-2-amino-4-(methylthio)-Butanoate
63-68-3
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
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 :
(7) Additional mRNA sequences :
(38) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MARS2 Gene

Methionyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

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
ECgene alternative splicing isoforms for
MARS2

Expression for MARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MARS2 Gene



NURSA nuclear receptor signaling pathways regulating expression of MARS2 Gene:

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 33
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia MARS2 33 34
  • 88.48 (n)
dog
(Canis familiaris)
Mammalia MARS2 33 34
  • 87.16 (n)
rat
(Rattus norvegicus)
Mammalia Mars2 33
  • 84.07 (n)
mouse
(Mus musculus)
Mammalia Mars2 33 16 34
  • 83.56 (n)
oppossum
(Monodelphis domestica)
Mammalia MARS2 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MARS2 34
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves MARS2 33 34
  • 64.2 (n)
lizard
(Anolis carolinensis)
Reptilia MARS2 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488527 33
  • 55.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68850 33
zebrafish
(Danio rerio)
Actinopterygii LOC566565 33
  • 59.17 (n)
MARS2 34
  • 56 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3692 33
fruit fly
(Drosophila melanogaster)
Insecta Aats-met 33 34
  • 54.25 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002383 33
  • 52.93 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y105E8A.20 33
  • 49.8 (n)
Y105E8A.20 34
  • 44 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL133W 33
  • 47.2 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F14971g 33
  • 46.64 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSM1 33 34 36
  • 46.27 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons OVA1 33
  • 46.4 (n)
rice
(Oryza sativa)
Liliopsida Os03g0209600 33
  • 46.85 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03759 33
  • 48.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC27E2.06c 33
  • 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)

Paralogs for MARS2 Gene

No data available for Paralogs for MARS2 Gene

Variants for MARS2 Gene

Sequence variations from dbSNP and Humsavar for MARS2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs794726869 pathogenic, Combined oxidative phosphorylation deficiency 25 197,705,955(+) C/T coding_sequence_variant, stop_gained
rs794726870 pathogenic, Combined oxidative phosphorylation deficiency 25, Combined oxidative phosphorylation deficiency 25 (COXPD25) [MIM:616430] 197,705,829(+) C/T coding_sequence_variant, missense_variant
rs754121141 likely-pathogenic, not provided 197,705,580(+) C/T coding_sequence_variant, missense_variant
rs757649757 likely-pathogenic, not provided 197,705,550(+) A/G coding_sequence_variant, missense_variant
rs137860531 likely-benign, not specified 197,705,492(+) C/T coding_sequence_variant, synonymous_variant

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

(5) MalaCards diseases for MARS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, 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
  • 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.
  • 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.

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 22 25 58
  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 58
  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 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58

Products for MARS2 Gene

Sources for MARS2 Gene

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