MRPS22 (mitochondrial ribosomal protein S22)

2014-11-01  

Identity

HGNC
LOCATION
3q23
LOCUSID
ALIAS
C3orf5,COXPD5,GIBT,GK002,MRP-S22,ODG7,RPMS22
FUSION GENES

Other Information

Locus ID:

NCBI: 56945
MIM: 605810
HGNC: 14508
Ensembl: ENSG00000175110

Variants:

dbSNP: 56945
ClinVar: 56945
TCGA: ENSG00000175110
COSMIC: MRPS22

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175110ENST00000310776P82650
ENSG00000175110ENST00000465056G5E9V5
ENSG00000175110ENST00000465373H7C5H3
ENSG00000175110ENST00000466690H7C5F2
ENSG00000175110ENST00000478464G5E9W7
ENSG00000175110ENST00000480644H7C5L9
ENSG00000175110ENST00000495075P82650
ENSG00000175110ENST00000495225C9J5D8
ENSG00000175110ENST00000498505P82650

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial translationREACTOMER-HSA-5368287
Mitochondrial translation initiationREACTOMER-HSA-5368286
Mitochondrial translation elongationREACTOMER-HSA-5389840
Mitochondrial translation terminationREACTOMER-HSA-5419276

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
295661522018Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.29
295661522018Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.29
287522202017A patient with mitochondrial disorder due to a novel mutation in MRPS22.8
287522202017A patient with mitochondrial disorder due to a novel mutation in MRPS22.8
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
185390992008The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.28
185390992008The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.28
178731222007Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.68
178731222007Antenatal 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/deep-insight-explorer/js/lib/gene-fusions-explorer/