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Gene

TRMT5

tRNA methyltransferase 5

Summary

Cytogenetic location
14q23.1
Coordinates
Chromosome 14: 60,971,441–60,981,079 (GRCh38)
Exons
5 exons across 9.6 kb
Protein
509 amino acids
Also known as
TRM5
Previous symbols
KIAA1393
MANE Select transcript
ENST00000261249.7NM_020810.3
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

  • 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.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

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

How TRMT5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where TRMT5 sits. TRMT5 and 9 genes near it on chromosome 14, from 60,476,260 to 61,476,259.Chromosome 1414q23.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3360.6 Mb60.8 Mb61 Mb61.2 Mb61.4 MbC14orf39: 60,396,469–60,515,543, reverse strandC14orf39SIX6: 60,509,146–60,512,850, forward strandSIX6SIX1: 60,643,421–60,658,259, reverse strandSIX1SIX4: 60,709,539–60,724,362, reverse strandSIX4MNAT1: 60,734,733–60,973,862, forward strandMNAT1TRMT5: 60,971,441–60,981,079, reverse strandTRMT5SLC38A6: 60,981,106–61,114,316, forward strandSLC38A6PRKCH: 61,187,559–61,550,980, forward strandPRKCHCDC50B: 61,277,370–61,281,761, reverse strandCDC50B: 61,321,954–61,322,034, forward strandDiagram of TRMT5: 5 exons on the reverse strand of chromosome 14Exon 2: 5 known disease-causing sitesExon 5: 60,971,441–60,975,194, 3,754 basesExon 4: 60,975,475–60,976,126, 652 basesExon 3: 60,977,514–60,977,638, 125 basesExon 2: 60,979,231–60,979,886, 656 basesExon 1: 60,980,963–60,981,079, 117 bases543215′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 5.3 kb of the gene's 9.6 kb; 1,530 of those bases code for the protein.

How a genome test reads TRMT5

5

positions in TRMT5 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 9.6 kb of TRMT5, introns included, not only the 5.3 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.). TRMT5 gene: tRNA methyltransferase 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/trmt5

Vancouver

Dante Labs. TRMT5 gene: tRNA methyltransferase 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/trmt5

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