MRPL19 (mitochondrial ribosomal protein L19)

2014-11-01  

Identity

HGNC
MRPL19
LOCATION
2p12
LOCUSID
9801
ALIAS
L19mt,MRP-L15,MRP-L19,MRPL15,RLX1,RPML15
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9801
MIM: 611832
HGNC: 14052
Ensembl: ENSG00000115364

Variants:

dbSNP: 9801
ClinVar: 9801
TCGA: ENSG00000115364
COSMIC: MRPL19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115364ENST00000358788A0A0A0MRF4
ENSG00000115364ENST00000393909P49406
ENSG00000115364ENST00000409374P49406
ENSG00000115364ENST00000453233H7C2J0
ENSG00000115364ENST00000476622S4R3W9
ENSG00000115364ENST00000492255S4R455

Expression (GTEx)

0
5
10
15
20
25
30
35
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
173098792007A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.42
173098792007A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.42
208462472011Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population.24
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
254483222015Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.13
295669792018Beyond genes: A systematic review of environmental risk factors in specific reading disorder.3
239548682013Lack of association between genetic polymorphisms in ROBO1, MRPL19/C2ORF3 and THEM2 with developmental dyslexia.2

Citation

Dessen P

MRPL19 (mitochondrial ribosomal protein L19)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70441/mrpl19