MRPS22 (mitochondrial ribosomal protein S22)

2014-11-01  

Identity

HGNC
MRPS22
LOCATION
3q23
LOCUSID
56945
ALIAS
C3orf5,COXPD5,GIBT,GK002,MRP-S22,ODG7,RPMS22
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
178731222007Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.53
185390992008The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
295661522018Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.6
287522202017A patient with mitochondrial disorder due to a novel mutation in MRPS22.3

Citation

Dessen P

MRPS22 (mitochondrial ribosomal protein S22)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70480/mrps22