PARS2 (prolyl-tRNA synthetase 2, mitochondrial)

2014-11-01  

Identity

HGNC
PARS2
LOCATION
1p32.3
LOCUSID
25973
ALIAS
DEE75,EIEE75,MT-PRORS,proRS

Other Information

Locus ID:

NCBI: 25973
MIM: 612036
HGNC: 30563
Ensembl: ENSG00000162396

Variants:

dbSNP: 25973
ClinVar: 25973
TCGA: ENSG00000162396
COSMIC: PARS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162396ENST00000371279Q7L3T8

Expression (GTEx)

0
5
10
15
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
Aminoacyl-tRNA biosynthesisKEGGko00970
Aminoacyl-tRNA biosynthesisKEGGhsa00970
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGhsa_M00359
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGM00359
Gene ExpressionREACTOMER-HSA-74160
tRNA AminoacylationREACTOMER-HSA-379724
Mitochondrial tRNA aminoacylationREACTOMER-HSA-379726

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
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
379569632024Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.0
379569632024Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.0
294105122018Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.13
299152132018The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.8
294105122018Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.13
299152132018The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.8
280778412017PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.25
280778412017PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.25
273488592016Chronic Rhinosinusitis Patients Show Accumulation of Genetic Variants in PARS2.1
273488592016Chronic Rhinosinusitis Patients Show Accumulation of Genetic Variants in PARS2.1
232631842013ATP-directed capture of bioactive herbal-based medicine on human tRNA synthetase.75
232631842013ATP-directed capture of bioactive herbal-based medicine on human tRNA synthetase.75
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

PARS2 (prolyl-tRNA synthetase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71673/cancer-prone-explorer/humanGenome