MRPL30 (mitochondrial ribosomal protein L30)

2014-11-01  

Identity

HGNC
MRPL30
LOCATION
2q11.2
LOCUSID
51263
ALIAS
L28MT,L30MT,MRP-L28,MRP-L30,MRPL28,MRPL28M,RPML28
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51263
MIM: 611838
HGNC: 14036
Ensembl: ENSG00000185414

Variants:

dbSNP: 51263
ClinVar: 51263
TCGA: ENSG00000185414
COSMIC: MRPL30

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185414ENST00000338148Q8TCC3
ENSG00000185414ENST00000409145B8ZZV5
ENSG00000185414ENST00000409841Q8TCC3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

MRPL30 (mitochondrial ribosomal protein L30)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70450/mrpl30-(mitochondrial-ribosomal-protein-l30)