Seroatlas · Human Serome Atlas

MARS2

Methionine--tRNA ligase, mitochondrial

Also known as: mtMetRS, SPAX3, SYMM_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96GW9
Gene
MARS2
Ensembl
ENSG00000247626
Chromosome
2
Canonical length
593 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

593 residues, UniProt reviewed canonical sequence.

>Q96GW9|MARS2
     1  MLRTSVLRLL GRTGASRLSL LEDFGPRYYS SGSLSAGDDA CDVRAYFTTP IFYVNAAPHI
    61  GHLYSALLAD ALCRHRRLRG PSTAATRFST GTDEHGLKIQ QAAATAGLAP TELCDRVSEQ
   121  FQQLFQEAGI SCTDFIRTTE ARHRVAVQHF WGVLKSRGLL YKGVYEGWYC ASDECFLPEA
   181  KVTQQPGPSG DSFPVSLESG HPVSWTKEEN YIFRLSQFRK PLQRWLRGNP QAITPEPFHH
   241  VVLQWLDEEL PDLSVSRRSS HLHWGIPVPG DDSQTIYVWL DALVNYLTVI GYPNAEFKSW
   301  WPATSHIIGK DILKFHAIYW PAFLLGAGMS PPQRICVHSH WTVCGQKMSK SLGNVVDPRT
   361  CLNRYTVDGF RYFLLRQGVP NWDCDYYDEK VVKLLNSELA DALGGLLNRC TAKRINPSET
   421  YPAFCTTCFP SEPGLVGPSV RAQAEDYALV SAVATLPKQV ADHYDNFRIY KALEAVSSCV
   481  RQTNGFVQRH APWKLNWESP VDAPWLGTVL HVALECLRVF GTLLQPVTPS LADKLLSRLG
   541  VSASERSLGE LYFLPRFYGH PCPFEGRRLG PETGLLFPRL DQSRTWLVKA HRT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MARS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
6.2 nTPM

Expression across tissuesHPA

Tissue

  • tonsil: 6.2 nTPM
  • lymph node: 6.1 nTPM
  • tongue: 5.6 nTPM
  • liver: 5.3 nTPM
  • colon: 5 nTPM
  • pancreas: 5 nTPM

Single-cell type

  • corticotrophs: 0.1 nCPM
  • adipocytes: 0 nCPM
  • adrenal cortex cells: 0 nCPM
  • adrenal medulla cells: 0 nCPM
  • alveolar cells type 1: 0 nCPM
  • alveolar cells type 2: 0 nCPM

Immune cell

  • NK-cell: 8.6 nTPM
  • T-reg: 6.6 nTPM
  • naive CD8 T-cell: 6.3 nTPM
  • naive CD4 T-cell: 5.7 nTPM
  • MAIT T-cell: 5 nTPM
  • gdT-cell: 4.3 nTPM

Brain region

  • white matter: 11 nTPM
  • pons: 9.3 nTPM
  • cerebellum: 9 nTPM
  • cerebral cortex: 8.9 nTPM
  • basal ganglia: 8.6 nTPM
  • thalamus: 8.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MARS2.

Disease | AllUniProt

Conditions MARS2 is implicated in, by any mechanism.

  • Spastic ataxia 3, autosomal recessive (SPAX3) MIM:611390
  • Combined oxidative phosphorylation deficiency 25 (COXPD25) MIM:616430

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 312 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Spastic ataxia 3
  • Combined oxidative phosphorylation defect type 25

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.87
gnomAD pLI
0
gnomAD missense Z
0.3
DepMap mean gene effect
-0.8
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MARS2 as an antibody target. Whether an autoantibody or antibody against MARS2 could matter depends on whether native MARS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MARS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MARS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MARS2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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