FARSB Gene

HGNC Family	Aminoacyl tRNA synthetases
Name	phenylalanyl-tRNA synthetase, beta subunit
Description	This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n FARSB, which encodes the β‐subunit of the cytosolic phenylalanyl–tRNA synthetase (PheRS), plays a critical role in the canonical charging of tRNA with phenylalanine and also appears to exert extra‐translational influences that impact human disease. On one hand, increased expression of FARSB has been observed in cancerous tissues; for instance, in gastric cancer its upregulation is correlated with higher tumor grade, metastasis, and poor patient survival, suggesting that it may contribute to tumor progression and serve as a prognostic marker."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " On the other hand, multiple studies have demonstrated that pathogenic, biallelic mutations in FARSB are associated with severe, multisystem disorders. A range of clinical presentations—including growth restriction, brain calcifications, interstitial lung disease, and liver dysfunction—has been attributed to loss‐of‐function variants in FARSB, thereby underscoring its essential role in protein translation and cellular homeostasis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "2", "end_ref": "5"}]}, {"type": "t", "text": " In addition, alterations in FARSB levels have been noted in neuropsychiatric conditions; for example, elevated plasma FARSB levels in patients with bipolar II disorder were positively correlated with brain‐derived neurotrophic factor (BDNF), indicating a potential role as a peripheral biomarker."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Furthermore, a germline single nucleotide polymorphism located in the genomic region near FARSB has been linked to an improved pathologic response to concurrent chemoradiation therapy in esophageal cancer, and FARSB itself has emerged as a hub gene in regulatory networks related to tobacco‐induced lung adenocarcinoma."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Collectively, these findings illustrate that FARSB’s functional versatility extends well beyond its canonical role in translation, influencing processes related to cancer progression, multisystem developmental disorders, treatment response, and even neuropsychiatric conditions.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Xiaoling Gao, Rui Guo, Yonghong Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Contribution of upregulated aminoacyl-tRNA biosynthesis to metabolic dysregulation in gastric cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Gastroenterol Hepatol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jgh.15592"}], "href": "https://doi.org/10.1111/jgh.15592"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34159625"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34159625"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Katarzyna Krenke, Krzysztof Szczałuba, Teresa Bielecka, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.13614"}], "href": "https://doi.org/10.1111/cge.13614"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31355908"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31355908"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Fahad Zadjali, Aida Al-Yahyaee, Maryam Al-Nabhani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.23595"}], "href": "https://doi.org/10.1002/humu.23595"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30014610"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30014610"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Zhiwen Xu, Wing-Sze Lo, David B Beck, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2018.06.006"}], "href": "https://doi.org/10.1016/j.ajhg.2018.06.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29979980"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29979980"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Luise A Schuch, Maria Forstner, Christina K Rapp, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.13943"}], "href": "https://doi.org/10.1111/cge.13943"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33598926"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33598926"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Sheng-Yu Lee, Tzu-Yun Wang, Ru-Band Lu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Plasma BDNF and Cytokines Correlated with Protein Biomarkers for Bipolar II Disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Pers Med (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/jpm11121282"}], "href": "https://doi.org/10.3390/jpm11121282"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34945756"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34945756"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Pei-Chun Chen, Yen-Ching Chen, Liang-Chuan Lai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Use of germline polymorphisms in predicting concurrent chemoradiotherapy response in esophageal cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Radiat Oncol Biol Phys (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijrobp.2011.02.036"}], "href": "https://doi.org/10.1016/j.ijrobp.2011.02.036"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21596488"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21596488"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yan-Mei Dong, Ming Li, Qi-En He, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Epigenome-Wide Tobacco-Related Methylation Signature Identification and Their Multilevel Regulatory Network Inference for Lung Adenocarcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomed Res Int (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2020/2471915"}], "href": "https://doi.org/10.1155/2020/2471915"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32420331"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32420331"}]}]}]}
Synonyms	HSPC173, PHEHB, FRSB, NEDBLLA, PheRS, FARSLB
Proteins	SYFB_HUMAN
NCBI Gene ID	10056
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

FARSB has 6,038 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 114 datasets.

Click the + buttons to view associations for FARSB from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

FARSB Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FARSB gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of FARSB gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of FARSB gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of FARSB gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of FARSB gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FARSB gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of FARSB gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of FARSB gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of FARSB gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of FARSB gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with FARSB protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with FARSB gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FARSB gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of FARSB gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of FARSB gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with FARSB gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing FARSB protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing FARSB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing FARSB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing FARSB protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with FARSB protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with FARSB protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with FARSB gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with FARSB gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with FARSB gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving FARSB gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with FARSB gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with FARSB gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with FARSB gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with FARSB gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for FARSB protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at FARSB gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FARSB gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of FARSB gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing FARSB from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with FARSB gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with FARSB gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing FARSB from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of FARSB gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of FARSB gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.