MRPS18C (mitochondrial ribosomal protein S18C)

2014-11-01  

Identity

HGNC
MRPS18C
LOCATION
4q21.23
LOCUSID
51023
ALIAS
CGI-134,MRP-S18-1,MRP-S18-c,MRPS18-1,S18mt-c,mrps18-c
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51023
MIM: 611983
HGNC: 16633
Ensembl: ENSG00000163319

Variants:

dbSNP: 51023
ClinVar: 51023
TCGA: ENSG00000163319
COSMIC: MRPS18C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163319ENST00000295491Q9Y3D5
ENSG00000163319ENST00000295491A0A024RDH9
ENSG00000163319ENST00000505719H0Y9W2
ENSG00000163319ENST00000507019D6RCM2
ENSG00000163319ENST00000507349D6RE70
ENSG00000163319ENST00000509970H0YAG5

Expression (GTEx)

0
5
10
15
20
25
30
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
RibosomeKEGGko03010
RibosomeKEGGhsa03010
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
345914342021Expression pattern of MRPS18 family genes in gliomas.0
345914342021Expression pattern of MRPS18 family genes in gliomas.0
285269482017An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene.3
285269482017An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene.3
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

MRPS18C (mitochondrial ribosomal protein S18C)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70477/js/lib/favicon/apple-touch-icon.png