Identity
HGNC
LOCATION
3q23
LOCUSID
ALIAS
C3orf5,COXPD5,GIBT,GK002,MRP-S22,ODG7,RPMS22
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 56945
MIM: 605810
HGNC: 14508
Ensembl: ENSG00000175110
Variants:
dbSNP: 56945
ClinVar: 56945
TCGA: ENSG00000175110
COSMIC: MRPS22
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29566152 | 2018 | Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. | 29 |
| 29566152 | 2018 | Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. | 29 |
| 28752220 | 2017 | A patient with mitochondrial disorder due to a novel mutation in MRPS22. | 8 |
| 28752220 | 2017 | A patient with mitochondrial disorder due to a novel mutation in MRPS22. | 8 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 18539099 | 2008 | The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria. | 28 |
| 18539099 | 2008 | The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria. | 28 |
| 17873122 | 2007 | Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. | 68 |
| 17873122 | 2007 | Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. | 68 |
Citation
Dessen P
MRPS22 (mitochondrial ribosomal protein S22)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70480/mrps22-(mitochondrial-ribosomal-protein-s22)
