FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial)

2016-10-01  

Identity

HGNC
FARS2
LOCATION
6p25.1
LOCUSID
10667
ALIAS
COXPD14,FARS1,HSPC320,PheRS,SPG77,mtPheRS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10667
MIM: 611592
HGNC: 21062
Ensembl: ENSG00000145982

Variants:

dbSNP: 10667
ClinVar: 10667
TCGA: ENSG00000145982
COSMIC: FARS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145982ENST00000274680O95363
ENSG00000145982ENST00000324331O95363
ENSG00000145982ENST00000445533Q5JRF7
ENSG00000145982ENST00000602691R4GMX6
ENSG00000145982ENST00000648580A0A3B3ITR6

Expression (GTEx)

0
5
10
15
20
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
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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
228334572012Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.54
195498552009Eukaryotic cytosolic and mitochondrial phenylalanyl-tRNA synthetases catalyze the charging of tRNA with the meta-tyrosine.22
186113822008The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
265532762016A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
258514142015Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.9
275490112016Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.8

Citation

Dessen P

FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55978/fars2