MRPS2 Chromosome 9
Mitochondrial ribosomal protein S2
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What This Gene Does
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins"
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000122140
Associated Conditions (2)
Combined oxidative phosphorylation deficiency 36
MRPS2-related disorder
Key Variants
RS138712673
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 36, MRPS2-related disorder, Combined oxidative phosphorylation deficiency 36
Health Risk
RS148092515
Conflicting classifications of pathogenicity
Health Risk
RS201229537
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36
Health Risk
RS541444392
Conflicting classifications of pathogenicity
MRPS2-related disorder, MRPS2-related disorder
Health Risk
RS758539748
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36
Health Risk
RS931429034
Conflicting classifications of pathogenicity
Health Risk
RS1028488967
Likely pathogenic
Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36
Health Risk
RS754750531
Likely pathogenic
Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36
Health Risk
RS761334309
Pathogenic
Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138712673 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 36, MRPS2-related disorder, Combined oxidative phosphorylation deficiency 36 |
| RS148092515 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201229537 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36 |
| RS541444392 | Health Risk | Conflicting classifications of pathogenicity | MRPS2-related disorder, MRPS2-related disorder |
| RS758539748 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36 |
| RS931429034 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1028488967 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36 |
| RS754750531 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36 |
| RS761334309 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36 |