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Gene

LARS2

leucyl-tRNA synthetase 2, mitochondrial

Summary

Cytogenetic location
3p21.31
Coordinates
Chromosome 3: 45,388,576–45,549,407 (GRCh38)
Exons
22 exons across 160.8 kb
Protein
903 amino acids
Also known as
KIAA0028, LEURS, MGC26121, mtLeuRS
MANE Select transcript
ENST00000645846.2NM_015340.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Female Infertility

    • Diminished or absent ability of a female to achieve conception.

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

How LARS2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where LARS2 sits. LARS2 and 12 genes near it on chromosome 3, from 44,968,992 to 45,968,991.Chromosome 33p21.31p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2945 Mb45.2 Mb45.4 Mb45.6 Mb45.8 MbZDHHC3: 44,914,692–44,976,282, reverse strandZDHHC3EXOSC7: 44,975,241–45,036,071, forward strandEXOSC7CLEC3B: 45,001,548–45,036,071, forward strandCLEC3BCDCP1: 45,082,277–45,146,483, reverse strandCDCP1TMEM158: 45,224,466–45,226,287, reverse strandTMEM158LARS2: 45,388,576–45,549,407, forward strandLARS2LIMD1: 45,555,394–45,686,341, forward strandLIMD1SACM1L: 45,689,056–45,745,425, forward strandSACM1LSLC6A20: 45,748,903–45,796,654, reverse strandSLC6A20LZTFL1: 45,823,316–45,916,042, reverse strandLZTFL1CCR9: 45,884,425–45,904,311, forward strandCCR9FYCO1: 45,917,903–45,995,845, reverse strandFYCO1CXCR6: 45,940,915–45,948,640, forward strandCXCR6Diagram of LARS2: 22 exons on the forward strand of chromosome 3Exon 3: 1 known disease-causing siteExon 5: 3 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 12: 1 known disease-causing siteExon 13: 5 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 18: 3 known disease-causing sitesExon 19: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 1: 45,388,576–45,388,680, 105 basesExon 2: 45,391,583–45,391,648, 66 basesExon 3: 45,394,433–45,394,687, 255 basesExon 4: 45,400,245–45,400,373, 129 basesExon 5: 45,417,482–45,417,573, 92 basesExon 6: 45,419,669–45,419,729, 61 basesExon 7: 45,446,891–45,446,980, 90 basesExon 8: 45,458,743–45,458,886, 144 basesExon 9: 45,474,243–45,474,350, 108 basesExon 10: 45,476,468–45,476,627, 160 basesExon 11: 45,485,692–45,485,796, 105 basesExon 12: 45,488,697–45,488,812, 116 basesExon 13: 45,491,517–45,491,800, 284 basesExon 14: 45,496,275–45,496,373, 99 basesExon 15: 45,500,442–45,500,579, 138 basesExon 16: 45,513,135–45,513,235, 101 basesExon 17: 45,516,094–45,516,276, 183 basesExon 18: 45,517,903–45,518,072, 170 basesExon 19: 45,520,219–45,520,296, 78 basesExon 20: 45,523,997–45,524,108, 112 basesExon 21: 45,541,829–45,541,956, 128 basesExon 22: 45,547,351–45,549,407, 2,057 bases12468101214161820225′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 4.8 kb of the gene's 160.8 kb; 2,712 of those bases code for the protein.

Sequencing LARS2

34

positions in LARS2 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 160.8 kb of LARS2, introns included, not only the 4.8 kb of exons.

ClinVar pathogenic variants (34)

The LARS2 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

  • Pathogenic 12
  • Pathogenic/likely pathogenic 2
  • Likely pathogenic 20
VariantConditionsClinVar classificationReview status
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) (opens in a new tab)Perrault syndrome and 2 othersPathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_015340.4(LARS2):c.457A>C (p.Asn153His) (opens in a new tab)Perrault syndrome and 1 otherPathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp) (opens in a new tab)Perrault syndrome 4 and 1 otherPathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_015340.4(LARS2):c.235-2A>G (opens in a new tab)Perrault syndrome 4Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_015340.4(LARS2):c.196C>T (p.Arg66Ter) (opens in a new tab)hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndromePathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.371A>T (p.Asn124Ile) (opens in a new tab)Perrault syndrome 4Pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.899C>T (p.Thr300Met) (opens in a new tab)Perrault syndrome 4Pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.1077del (p.Ile360fs) (opens in a new tab)Perrault syndrome 4Pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.1111del (p.Asp371fs) (opens in a new tab)Perrault syndrome 4Pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.1239+1G>A (opens in a new tab)Perrault syndrome 4Pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.1498G>T (p.Glu500Ter) (opens in a new tab)Perrault syndrome 4Pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.1623-1G>T (opens in a new tab)Perrault syndrome 4Pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys) (opens in a new tab)Perrault syndrome 4Pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.2218del (p.Thr740fs) (opens in a new tab)Perrault syndrome 4Pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.2585_2589dup (p.Asp864fs) (opens in a new tab)Perrault syndrome 4Pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.388G>A (p.Ala130Thr) (opens in a new tab)hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndromeLikely pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.440A>C (p.Gln147Pro) (opens in a new tab)Perrault syndrome 4 and 1 otherLikely pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.551G>A (p.Trp184Ter) (opens in a new tab)Perrault syndrome 4 and 1 otherLikely pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.620G>A (p.Trp207Ter) (opens in a new tab)Perrault syndrome 4 and 1 otherLikely pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.683G>A (p.Arg228His) (opens in a new tab)hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndromeLikely pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.764C>T (p.Ala255Val) (opens in a new tab)Perrault syndrome 4Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.795A>G (p.Ile265Met) (opens in a new tab)Perrault syndrome 4Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys) (opens in a new tab)Perrault syndrome 4 and 1 otherLikely pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.1079T>C (p.Ile360Thr) (opens in a new tab)Perrault syndrome 4Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter) (opens in a new tab)Perrault syndrome 4Likely pathogenic1 star out of 4 criteria provided, single submitter

See all 34 with every other LARS2 variant in ClinVar → (opens in a new tab)

Genes linked to the same conditions

Traits linked to LARS2

The Human Phenotype Ontology lists these as features of the rare conditions LARS2 can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-18: 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 2026.10.18-8b139e39.

Cite this page

APA

Dante Labs. (n.d.). LARS2 gene: leucyl-tRNA synthetase 2, mitochondrial. Retrieved 18 October 2026, from https://dantelabs.com/genes/lars2

Vancouver

Dante Labs. LARS2 gene: leucyl-tRNA synthetase 2, mitochondrial [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/lars2

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