FARSB (phenylalanyl-tRNA synthetase subunit beta)

2014-11-01  

Identity

HGNC
LOCATION
2q36.1
LOCUSID
ALIAS
FARSLB,FRSB,HSPC173,NEDBLLA,PheHB,PheRS,RILDBC,RILDBC1
FUSION GENES

Other Information

Locus ID:

NCBI: 10056
MIM: 609690
HGNC: 17800
Ensembl: ENSG00000116120

Variants:

dbSNP: 10056
ClinVar: 10056
TCGA: ENSG00000116120
COSMIC: FARSB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116120ENST00000281828Q9NSD9

Expression (GTEx)

0
10
20
30
40
50
60
70

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
Cytosolic tRNA aminoacylationREACTOMER-HSA-379716

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
380690342023FARSB Facilitates Hepatocellular Carcinoma Progression by Activating the mTORC1 Signaling Pathway.0
380690342023FARSB Facilitates Hepatocellular Carcinoma Progression by Activating the mTORC1 Signaling Pathway.0
341596252021Contribution of upregulated aminoacyl-tRNA biosynthesis to metabolic dysregulation in gastric cancer.22
341596252021Contribution of upregulated aminoacyl-tRNA biosynthesis to metabolic dysregulation in gastric cancer.22
313559082019FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.15
313559082019FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.15
295730432018Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.20
300146102018Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.16
295730432018Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.20
300146102018Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.16
221378942012Crystal structure of human mitochondrial PheRS complexed with tRNA(Phe) in the active "open" state.26
221378942012Crystal structure of human mitochondrial PheRS complexed with tRNA(Phe) in the active "open" state.26
202232172010Structure of human cytosolic phenylalanyl-tRNA synthetase: evidence for kingdom-specific design of the active sites and tRNA binding patterns.32
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
202232172010Structure of human cytosolic phenylalanyl-tRNA synthetase: evidence for kingdom-specific design of the active sites and tRNA binding patterns.32

Citation

Dessen P

FARSB (phenylalanyl-tRNA synthetase subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63300/farsb-(phenylalanyl-trna-synthetase-subunit-beta)