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Gene

MRPS34

mitochondrial ribosomal protein S34

Summary

Cytogenetic location
16p13.3
Coordinates
Chromosome 16: 1,771,895–1,773,134 (GRCh38)
Exons
3 exons across 1.2 kb
Protein
218 amino acids
Also known as
MRP-S12, MGC2616, mS34
MANE Select transcript
ENST00000397375.7NM_023936.2
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 reports 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.

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

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

Broader groupings

  • 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 MRPS34 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 16, with a bracket where MRPS34 sits. MRPS34 and 51 genes near it on chromosome 16, from 1,272,515 to 2,272,514.Chromosome 1616p13.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.31.4 Mb1.6 Mb1.8 Mb2 Mb2.2 MbUBE2I: 1,291,357–1,327,018, forward strandUBE2IBAIAP3: 1,333,638–1,349,439, forward strandBAIAP3TSR3: 1,349,236–1,351,898, reverse strandTSR3GNPTG: 1,351,924–1,365,737, forward strandGNPTGUNKL: 1,363,205–1,414,751, reverse strandUNKLUQCC4: 1,419,752–1,420,756, reverse strandUQCC4PERCC1: 1,431,078–1,434,441, forward strandPERCC1CCDC154: 1,434,383–1,444,556, reverse strandCCDC154CLCN7: 1,444,934–1,475,104, reverse strandCLCN7PTX4: 1,485,886–1,488,981, reverse strandPTX4TELO2: 1,493,329–1,512,551, forward strandTELO2IFT140: 1,510,427–1,612,082, reverse strandIFT140TMEM204: 1,528,674–1,555,580, forward strandTMEM204CRAMP1: 1,612,337–1,677,908, forward strandCRAMP1: 1,632,259–1,686,715, forward strandJPT2: 1,678,256–1,702,859, forward strandJPT2MAPK8IP3: 1,706,166–1,770,374, forward strandNME3: 1,770,317–1,771,746, reverse strandNME3MRPS34: 1,771,895–1,773,134, reverse strandMRPS34EME2: 1,772,283–1,781,708, forward strandEME2SPSB3: 1,776,710–1,793,700, reverse strandSPSB3NUBP2: 1,782,932–1,789,189, forward strandIGFALS: 1,790,227–1,794,971, reverse strandHAGH: 1,795,620–1,827,187, reverse strandFAHD1: 1,826,967–1,842,053, forward strandFAHD1MEIOB: 1,833,986–1,884,294, reverse strandMEIOBHS3ST6: 1,911,475–1,918,415, reverse strandHS3ST6MSRB1: 1,935,685–1,943,270, reverse strandMSRB1RPL3L: 1,943,791–1,957,606, reverse strandRPL3LNDUFB10: 1,959,500–1,962,105, forward strandNDUFB10RPS2: 1,961,987–1,965,510, reverse strandRNF151: 1,966,823–1,968,975, forward strandTBL3: 1,971,972–1,983,056, forward strandNOXO1: 1,978,912–1,984,636, reverse strandGFER: 1,983,699–1,987,749, forward strandSYNGR3: 1,989,637–1,994,275, forward strandZNF598: 1,997,654–2,009,821, reverse strandNPW: 2,009,926–2,020,755, forward strandNPWNHERF2: 2,025,356–2,039,026, forward strandNHERF2NTHL1: 2,039,814–2,047,866, reverse strandNTHL1TSC2: 2,047,345–2,089,491, forward strandTSC2PKD1: 2,088,708–2,135,898, reverse strandPKD1RAB26: 2,140,803–2,154,165, forward strandRAB26TRAF7: 2,155,692–2,178,129, forward strandTRAF7CASKIN1: 2,177,180–2,196,788, reverse strandCASKIN1MLST8: 2,204,248–2,209,453, forward strandMLST8BRICD5: 2,209,252–2,210,905, reverse strandBRICD5PGP: 2,211,593–2,214,846, reverse strandPGPE4F1: 2,223,440–2,235,743, forward strandDNASE1L2: 2,235,816–2,238,711, forward strandECI1: 2,239,376–2,252,300, reverse strandRNPS1: 2,253,116–2,268,413, reverse strandRNPS1Diagram of MRPS34: 3 exons on the reverse strand of chromosome 16Exon 3: 3 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 3: 1,771,895–1,772,513, 619 basesExon 2: 1,772,604–1,772,646, 43 basesExon 1: 1,772,799–1,773,134, 336 bases3215′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 kb of the gene's 1.2 kb; 657 of those bases code for the protein.

How a genome test reads MRPS34

6

positions in MRPS34 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 1.2 kb of MRPS34, introns included, not only the 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.). MRPS34 gene: mitochondrial ribosomal protein S34. Retrieved 16 October 2026, from https://dantelabs.com/genes/mrps34

Vancouver

Dante Labs. MRPS34 gene: mitochondrial ribosomal protein S34 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mrps34

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