Identity
HGNC
LOCATION
6p25.1
LOCUSID
ALIAS
COXPD14,FARS1,HSPC320,PheRS,SPG77,mtPheRS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10667
MIM: 611592
HGNC: 21062
Ensembl: ENSG00000145982
Variants:
dbSNP: 10667
ClinVar: 10667
TCGA: ENSG00000145982
COSMIC: FARS2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38362779 | 2024 | FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System. | 0 |
| 38362779 | 2024 | FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System. | 0 |
| 36155627 | 2022 | Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2. | 2 |
| 36155627 | 2022 | Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2. | 2 |
| 33168986 | 2021 | Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. | 4 |
| 33972171 | 2021 | Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations. | 12 |
| 33168986 | 2021 | Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. | 4 |
| 33972171 | 2021 | Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations. | 12 |
| 32115907 | 2020 | Breaking a single hydrogen bond in the mitochondrial tRNA(Phe) -PheRS complex leads to phenotypic pleiotropy of human disease. | 3 |
| 32115907 | 2020 | Breaking a single hydrogen bond in the mitochondrial tRNA(Phe) -PheRS complex leads to phenotypic pleiotropy of human disease. | 3 |
| 31241862 | 2019 | Biophysical characterization Of Alpers encephalopathy associated mutants of human mitochondrial phenylalanyl-tRNA synthetase. | 1 |
| 31241862 | 2019 | Biophysical characterization Of Alpers encephalopathy associated mutants of human mitochondrial phenylalanyl-tRNA synthetase. | 1 |
| 30177229 | 2018 | FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. | 17 |
| 30177229 | 2018 | FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. | 17 |
| 28419689 | 2017 | Kinetic 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/fars2-(phenylalanyl-trna-synthetase-2-mitochondrial)
