Identity
HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
CGI-91,COXPD36,MRP-S2,S2mt
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: 51116
MIM: 611971
HGNC: 14495
Ensembl: ENSG00000122140
Variants:
dbSNP: 51116
ClinVar: 51116
TCGA: ENSG00000122140
COSMIC: MRPS2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000122140 | ENST00000241600 | Q9Y399 |
| ENSG00000122140 | ENST00000371785 | Q9Y399 |
| ENSG00000122140 | ENST00000453385 | Q5T8A0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29576219 | 2018 | Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. | 32 |
| 29576219 | 2018 | Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. | 32 |
| 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 |
Citation
Dessen P
MRPS2 (mitochondrial ribosomal protein S2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70478/mrps2-(mitochondrial-ribosomal-protein-s2)
