Property Summary

NCBI Gene PubMed Count 26
Grant Count 7
R01 Count 2
Funding $525,765.66
PubMed Score 105.12
PubTator Score 12.77

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
psoriasis 1.600 0.002
osteosarcoma -1.314 0.000
tuberculosis 3.100 0.000
group 3 medulloblastoma 1.300 0.002
posterior fossa group B ependymoma 1.100 0.000
ovarian cancer 1.300 0.002

Synonym

Accession O95363 B2R664 Q53F66 Q5TCS3 Q6FG29 Q9NPY7 Q9P062
Symbols FARS1
PheRS
SPG77
COXPD14
HSPC320

Gene

PANTHER Protein Class (2)

PDB

3CMQ   3HFV   3TEG   3TUP  

Gene RIF (12)

PMID Text
26553276 A newly identified missense mutation in FARS2 causes autosomal-recessive spastic paraplegia.
25851414 this study expands the phenotypic spectrum of FARS2 related disease and emphasizes intragenic deletion in the list of causative mutations.
22833457 the three FARS2 mutations directly impair aminoacylation function and stability of mtPheRS, leading to a decrease in overall tRNA charging capacity.
21601574 Two phenylalanyl-tRNA synthetase variants Ser57Cys and Asp280Ser both display wild-type aminoacylation activity and stability with respect to their free energies of unfolding, but are less stable at low hydrogen-ion concentration (pH).
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19737557 these results indicate that conformational flexibility of the two functional modules in mtPheRS is essential for its phenylalanylation activity.
19549855 Mitochondrial and cytoplasmic phenylalanyl-tRNA synthetases (HsmtPheRS and HsctPheRS, respectively) catalyze direct attachment of m-Tyr to tRNA(Phe).
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AA Sequence

MVGSALRRGAHAYVYLVSKASHISRGHQHQAWGSRPPAAECATQRAPGSVVELLGKSYPQDDHSNLTRKV      1 - 70
LTRVGRNLHNQQHHPLWLIKERVKEHFYKQYVGRFGTPLFSVYDNLSPVVTTWQNFDSLLIPADHPSRKK     71 - 140
GDNYYLNRTHMLRAHTSAHQWDLLHAGLDAFLVVGDVYRRDQIDSQHYPIFHQLEAVRLFSKHELFAGIK    141 - 210
DGESLQLFEQSSRSAHKQETHTMEAVKLVEFDLKQTLTRLMAHLFGDELEIRWVDCYFPFTHPSFEMEIN    211 - 280
FHGEWLEVLGCGVMEQQLVNSAGAQDRIGWAFGLGLERLAMILYDIPDIRLFWCEDERFLKQFCVSNINQ    281 - 350
KVKFQPLSKYPAVINDISFWLPSENYAENDFYDLVRTIGGDLVEKVDLIDKFVHPKTHKTSHCYRITYRH    351 - 420
MERTLSQREVRHIHQALQEAAVQLLGVEGRF                                           421 - 451
//

Text Mined References (28)

PMID Year Title
26553276 2016 A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25851414 2015 Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
25416956 2014 A proteome-scale map of the human interactome network.
23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
22833457 2012 Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
22499341 2012 Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.
21998595 2011 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
21601574 2011 Mitochondrial aminoacyl-tRNA synthetase single-nucleotide polymorphisms that lead to defects in refolding but not aminoacylation.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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