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
383627792024FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.0
383627792024FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.0
361556272022Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.2
361556272022Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.2
331689862021Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.4
339721712021Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.12
331689862021Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.4
339721712021Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.12
321159072020Breaking a single hydrogen bond in the mitochondrial tRNA(Phe) -PheRS complex leads to phenotypic pleiotropy of human disease.3
321159072020Breaking a single hydrogen bond in the mitochondrial tRNA(Phe) -PheRS complex leads to phenotypic pleiotropy of human disease.3
312418622019Biophysical characterization Of Alpers encephalopathy associated mutants of human mitochondrial phenylalanyl-tRNA synthetase.1
312418622019Biophysical characterization Of Alpers encephalopathy associated mutants of human mitochondrial phenylalanyl-tRNA synthetase.1
301772292018FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.17
301772292018FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.17
284196892017Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2.7

Citation

Dessen P

FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55978/js/lib/js/meetings/