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Gene

MRPL39

mitochondrial ribosomal protein L39

Summary

Cytogenetic location
21q21.3
Coordinates
Chromosome 21: 25,585,656–25,607,481 (GRCh38)
Exons
10 exons across 21.8 kb
Protein
338 amino acids
Also known as
RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451, mL39
MANE Select transcript
ENST00000352957.9NM_017446.4
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.

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

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

How MRPL39 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 21, with a bracket where MRPL39 sits. MRPL39 and 4 genes near it on chromosome 21, from 25,096,569 to 26,096,568.Chromosome 2121q21.3p13p12p11.2p11.1q11.1q11.2q21.1q21.2q21.3q22.11q22.12q22.13q22.2q22.325.2 Mb25.4 Mb25.6 Mb25.8 Mb26 MbMRPL39: 25,585,656–25,607,481, reverse strandMRPL39JAM2: 25,639,258–25,717,783, forward strandJAM2ATP5PF: 25,693,623–25,735,721, reverse strandATP5PFGABPA: 25,734,570–25,772,460, forward strandGABPAAPP: 25,880,535–26,171,128, reverse strandAPPDiagram of MRPL39: 10 exons on the reverse strand of chromosome 21Exon 8: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 10: 25,585,656–25,585,754, 99 basesExon 9: 25,588,835–25,588,882, 48 basesExon 8: 25,592,812–25,592,965, 154 basesExon 7: 25,593,893–25,593,958, 66 basesExon 6: 25,597,302–25,597,414, 113 basesExon 5: 25,599,799–25,599,866, 68 basesExon 4: 25,601,368–25,601,467, 100 basesExon 3: 25,603,796–25,603,935, 140 basesExon 2: 25,606,449–25,606,655, 207 basesExon 1: 25,607,403–25,607,481, 79 bases109876543215′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 1.1 kb of the gene's 21.8 kb; 1,017 of those bases code for the protein.

How a genome test reads MRPL39

3

positions in MRPL39 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 21.8 kb of MRPL39, introns included, not only the 1.1 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.). MRPL39 gene: mitochondrial ribosomal protein L39. Retrieved 16 October 2026, from https://dantelabs.com/genes/mrpl39

Vancouver

Dante Labs. MRPL39 gene: mitochondrial ribosomal protein L39 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mrpl39

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