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Gene

DARS2

aspartyl-tRNA synthetase 2, mitochondrial

Summary

Cytogenetic location
1q25.1
Coordinates
Chromosome 1: 173,824,673–173,858,546 (GRCh38)
Exons
17 exons across 33.9 kb
Protein
645 amino acids
Also known as
FLJ10514, mtAspRS
MANE Select transcript
ENST00000649689.2NM_018122.5
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 report relevant to this gene

    • 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.

        • 5 GenCC submitters rate 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 DARS2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 1, with a bracket where DARS2 sits. DARS2 and 13 genes near it on chromosome 1, from 173,341,610 to 174,341,609.Chromosome 11q25.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44173.4 Mb173.6 Mb173.8 Mb174 Mb174.2 MbTNFSF4: 173,162,645–173,477,583, reverse strandTNFSF4PRDX6: 173,476,814–173,494,013, forward strandPRDX6SLC9C2: 173,500,460–173,603,077, reverse strandSLC9C2: 173,596,060–173,669,837, reverse strandANKRD45: 173,606,033–173,669,868, reverse strandANKRD45TEX50: 173,635,338–173,637,130, forward strandTEX50KLHL20: 173,714,909–173,787,505, forward strandKLHL20CENPL: 173,794,851–173,824,925, reverse strandCENPLDARS2: 173,824,673–173,858,546, forward strandDARS2ZBTB37: 173,868,082–173,903,547, forward strandZBTB37SERPINC1: 173,903,414–173,917,543, reverse strandSERPINC1RC3H1: 173,931,084–174,022,418, reverse strandRC3H1: 174,022,122–174,022,298, reverse strandRABGAP1L: 174,159,339–174,995,308, forward strandRABGAP1LDiagram of DARS2: 17 exons on the forward strand of chromosome 1Exon 1: 5 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 6 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 6 known disease-causing sitesExon 10: 1 known disease-causing siteExon 11: 3 known disease-causing sitesExon 12: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 14: 5 known disease-causing sitesExon 15: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 1: 173,824,673–173,825,356, 684 basesExon 2: 173,826,687–173,826,786, 100 basesExon 3: 173,828,333–173,828,399, 67 basesExon 4: 173,830,660–173,830,761, 102 basesExon 5: 173,831,535–173,831,630, 96 basesExon 6: 173,833,376–173,833,499, 124 basesExon 7: 173,834,473–173,834,519, 47 basesExon 8: 173,836,940–173,837,046, 107 basesExon 9: 173,838,190–173,838,259, 70 basesExon 10: 173,839,367–173,839,546, 180 basesExon 11: 173,840,866–173,840,973, 108 basesExon 12: 173,845,229–173,845,291, 63 basesExon 13: 173,850,327–173,850,479, 153 basesExon 14: 173,853,349–173,853,567, 219 basesExon 15: 173,853,795–173,853,905, 111 basesExon 16: 173,856,666–173,856,741, 76 basesExon 17: 173,857,518–173,858,546, 1,029 bases1246810121416175′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 3.3 kb of the gene's 33.9 kb; 1,938 of those bases code for the protein.

    How a genome test reads DARS2

    53

    positions in DARS2 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 33.9 kb of DARS2, introns included, not only the 3.3 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.). DARS2 gene: aspartyl-tRNA synthetase 2, mitochondrial. Retrieved 16 October 2026, from https://dantelabs.com/genes/dars2

    Vancouver

    Dante Labs. DARS2 gene: aspartyl-tRNA synthetase 2, mitochondrial [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dars2

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