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Gene

MRPS22

mitochondrial ribosomal protein S22

Summary

Cytogenetic location
3q23
Coordinates
Chromosome 3: 139,344,020–139,357,129 (GRCh38)
Exons
8 exons across 13.1 kb
Protein
360 amino acids
Also known as
MRP-S22, GK002, C3orf5, GIBT, mS22
MANE Select transcript
ENST00000680020.1NM_020191.4
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 reports relevant to this gene

  • Female Infertility

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

      • 1 GenCC submitter rates it definitive or strong

  • 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.

How MRPS22 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 MRPS22 sits. MRPS22 and 9 genes near it on chromosome 3, from 138,850,575 to 139,850,574.Chromosome 33q23p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29139 Mb139.2 Mb139.4 Mb139.6 Mb139.8 MbFOXL2: 138,944,224–138,947,137, reverse strandFOXL2FOXL2NB: 138,947,177–138,953,990, forward strandFOXL2NBPRR23A: 139,003,962–139,006,268, reverse strandPRR23APRR23B: 139,019,031–139,020,926, reverse strandPRR23BPRR23C: 139,042,102–139,044,892, reverse strandPRR23CMRPS22: 139,344,020–139,357,129, forward strandMRPS22COPB2: 139,353,942–139,389,736, reverse strandCOPB2RBP2: 139,452,884–139,480,767, reverse strandRBP2RBP1: 139,517,434–139,540,396, reverse strandRBP1NMNAT3: 139,558,696–139,678,017, reverse strandNMNAT3Diagram of MRPS22: 8 exons on the forward strand of chromosome 3Exon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 1: 139,344,020–139,344,198, 179 basesExon 2: 139,346,878–139,347,044, 167 basesExon 3: 139,348,160–139,348,324, 165 basesExon 4: 139,350,179–139,350,322, 144 basesExon 5: 139,350,977–139,351,060, 84 basesExon 6: 139,352,647–139,352,792, 146 basesExon 7: 139,355,682–139,355,790, 109 basesExon 8: 139,356,919–139,357,129, 211 bases123456785′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 1.2 kb of the gene's 13.1 kb; 1,083 of those bases code for the protein.

How a genome test reads MRPS22

9

positions in MRPS22 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 13.1 kb of MRPS22, introns included, not only the 1.2 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.). MRPS22 gene: mitochondrial ribosomal protein S22. Retrieved 17 October 2026, from https://dantelabs.com/genes/mrps22

Vancouver

Dante Labs. MRPS22 gene: mitochondrial ribosomal protein S22 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mrps22

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