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Gene

TRMU

tRNA mitochondrial 2-thiouridylase

Summary

Cytogenetic location
22q13.31
Coordinates
Chromosome 22: 46,335,714–46,357,340 (GRCh38)
Exons
11 exons across 21.6 kb
Protein
421 amino acids
Also known as
FLJ10140, MTO2, MTU1
Previous symbols
TRMT
MANE Select transcript
ENST00000645190.1NM_018006.5
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

    • 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 moderate

    How TRMU is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 22, with a bracket where TRMU sits. TRMU and 11 genes near it on chromosome 22, from 45,846,527 to 46,846,526.Chromosome 2222q13.31p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3346 Mb46.2 Mb46.4 Mb46.6 Mb46.8 MbATXN10: 45,671,710–45,856,028, forward strandATXN10WNT7B: 45,920,366–45,977,260, reverse strandWNT7BPPARA: 46,149,924–46,243,755, forward strandPPARACDPF1: 46,241,405–46,250,897, reverse strandCDPF1PKDREJ: 46,255,663–46,263,343, reverse strandPKDREJTTC38: 46,267,961–46,295,097, forward strandTTC38GTSE1: 46,296,870–46,330,810, forward strandGTSE1TRMU: 46,335,714–46,357,340, forward strandTRMUCELSR1: 46,360,834–46,537,638, reverse strandCELSR1GRAMD4: 46,575,636–46,682,755, forward strandGRAMD4CERK: 46,684,409–46,738,319, reverse strandCERKTBC1D22A: 46,762,617–47,175,699, forward strandTBC1D22ADiagram of TRMU: 11 exons on the forward strand of chromosome 22Exon 1: 8 known disease-causing sitesExon 2: 16 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 16 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 8: 12 known disease-causing sitesExon 9: 14 known disease-causing sitesExon 10: 9 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 1: 46,335,714–46,335,846, 133 basesExon 2: 46,337,779–46,337,944, 166 basesExon 3: 46,343,262–46,343,368, 107 basesExon 4: 46,346,422–46,346,544, 123 basesExon 5: 46,350,291–46,350,463, 173 basesExon 6: 46,352,121–46,352,174, 54 basesExon 7: 46,352,264–46,352,330, 67 basesExon 8: 46,353,767–46,353,867, 101 basesExon 9: 46,355,444–46,355,588, 145 basesExon 10: 46,355,990–46,356,072, 83 basesExon 11: 46,356,842–46,357,340, 499 bases1246810115′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 1.7 kb of the gene's 21.6 kb; 1,266 of those bases code for the protein.

    How a genome test reads TRMU

    131

    positions in TRMU 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 21.6 kb of TRMU, introns included, not only the 1.7 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.). TRMU gene: tRNA mitochondrial 2-thiouridylase. Retrieved 16 October 2026, from https://dantelabs.com/genes/trmu

    Vancouver

    Dante Labs. TRMU gene: tRNA mitochondrial 2-thiouridylase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/trmu

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