Gene
MRPS2
mitochondrial ribosomal protein S2
- HGNC 14495(opens in a new tab)
- Ensembl gene ENSG00000122140(opens in a new tab)
- NCBI Gene 51116(opens in a new tab)
Summary
- Cytogenetic location
- 9q34.3
- Coordinates
- Chromosome 9: 135,500,682–135,504,671 (GRCh38)
- Exons
- 4 exons across 4 kb
- Protein
- 296 amino acids
- Also known as
- CGI-91, uS2m
- MANE Select transcript
- ENST00000241600.10NM_016034.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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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 MRPS2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 1.5 kb of the gene's 4 kb; 891 of those bases code for the protein.
How a genome test reads MRPS2
6
positions in MRPS2 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 4 kb of MRPS2, introns included, not only the 1.5 kb of exons.
Traits linked to MRPS2
The Human Phenotype Ontology lists these as features of the rare conditions MRPS2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). MRPS2 gene: mitochondrial ribosomal protein S2. Retrieved 16 October 2026, from https://dantelabs.com/genes/mrps2
Dante Labs. MRPS2 gene: mitochondrial ribosomal protein S2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mrps2
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