Gene
MARS2
methionyl-tRNA synthetase 2, mitochondrial
- HGNC 25133(opens in a new tab)
- Ensembl gene ENSG00000247626(opens in a new tab)
- NCBI Gene 92935(opens in a new tab)
Summary
- Cytogenetic location
- 2q33.1
- Coordinates
- Chromosome 2: 197,705,369–197,708,395 (GRCh38)
- Exons
- 1 exon across 3 kb
- Protein
- 593 amino acids
- Also known as
- mtMetRS, SPAX3
- MANE Select transcript
- ENST00000282276.8NM_138395.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How MARS2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3 kb of the gene's 3 kb; 1,782 of those bases code for the protein.
How a genome test reads MARS2
3
positions in MARS2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 3 kb of MARS2, introns included, not only the 3 kb of exons.
Traits linked to MARS2
The Human Phenotype Ontology lists these as features of the rare conditions MARS2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Degeneration of cerebellum
- Global developmental delay
- Increased reflexes
- Cerebellar vermis atrophy
- Small cerebellum
- Spastic ataxia
- Cognitive impairment
Show 12 more traits
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Degeneration of cerebrum
- Difficulty articulating speech
- Dystonia
- Hypoplasia of the pons
- Inability to coordinate movements when walking
- Intellectual disability, mild
- Lack of coordination of movement
- Leukoencephalopathy
- Loss of ability to walk
- Progressive cerebellar ataxia
- Ventriculomegaly
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MARS2 gene: methionyl-tRNA synthetase 2, mitochondrial. Retrieved 16 October 2026, from https://dantelabs.com/genes/mars2
Dante Labs. MARS2 gene: methionyl-tRNA synthetase 2, mitochondrial [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mars2
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