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Gene

EARS2

glutamyl-tRNA synthetase 2, mitochondrial

Summary

Cytogenetic location
16p12.2
Coordinates
Chromosome 16: 23,520,754–23,557,350 (GRCh38)
Exons
9 exons across 36.6 kb
Protein
523 amino acids
Also known as
KIAA1970, MSE1, mtGlnRS
MANE Select transcript
ENST00000449606.7NM_001083614.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Primary Mitochondrial Disease

    • Combined Oxidative Phosphorylation Deficiency

      Disorders, usually caused by nuclear genes involved in mitochondrial protein production, that reduce several respiratory chain complexes at once and often cause severe multisystem disease in childhood.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing can end a diagnostic search and guide surveillance and supportive care.

Broader groupings

  • Leigh Syndrome

    • One of 69 genes linked to it

      A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

How EARS2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where EARS2 sits. EARS2 and 13 genes near it on chromosome 16, from 23,039,052 to 24,039,051.Chromosome 1616p12.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.323.2 Mb23.4 Mb23.6 Mb23.8 Mb24 MbUSP31: 23,061,406–23,149,466, reverse strandUSP31SCNN1G: 23,182,677–23,216,883, forward strandSCNN1GSCNN1B: 23,278,231–23,381,299, forward strandSCNN1BCOG7: 23,388,493–23,453,210, reverse strandCOG7GGA2: 23,462,213–23,521,995, reverse strandGGA2EARS2: 23,520,754–23,557,350, reverse strandEARS2UBFD1: 23,557,557–23,574,394, forward strandUBFD1NDUFAB1: 23,580,952–23,596,328, reverse strandNDUFAB1PALB2: 23,603,158–23,641,342, reverse strandPALB2DCTN5: 23,641,380–23,677,472, forward strandDCTN5PLK1: 23,677,656–23,690,372, forward strandPLK1ERN2: 23,688,117–23,713,255, reverse strandERN2CHP2: 23,754,618–23,759,058, forward strandCHP2PRKCB: 23,835,939–24,220,611, forward strandPRKCBDiagram of EARS2: 9 exons on the reverse strand of chromosome 16Exon 9: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 1 known disease-causing siteExon 9: 23,520,754–23,524,454, 3,701 basesExon 8: 23,525,244–23,525,379, 136 basesExon 7: 23,529,502–23,529,632, 131 basesExon 6: 23,529,744–23,529,897, 154 basesExon 5: 23,532,657–23,532,765, 109 basesExon 4: 23,534,888–23,535,360, 473 basesExon 3: 23,544,514–23,544,703, 190 basesExon 2: 23,552,149–23,552,304, 156 basesExon 1: 23,557,205–23,557,350, 146 bases9864215′3′

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 5.2 kb of the gene's 36.6 kb; 1,572 of those bases code for the protein.

How a genome test reads EARS2

19

positions in EARS2 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 36.6 kb of EARS2, introns included, not only the 5.2 kb of exons.

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.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • 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

APA

Dante Labs. (n.d.). EARS2 gene: glutamyl-tRNA synthetase 2, mitochondrial. Retrieved 17 October 2026, from https://dantelabs.com/genes/ears2

Vancouver

Dante Labs. EARS2 gene: glutamyl-tRNA synthetase 2, mitochondrial [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ears2

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