FARSB: Phenylalanyl-tRNA Synthetase Subunit Beta
A critical enzyme in protein synthesis, linked to multisystem disorders and cancer
Gene Information Card
| Symbol | FARSB |
|---|---|
| Full Name | Phenylalanyl-tRNA Synthetase Subunit Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 2q36.1 |
| NCBI Gene ID | 10056 ncbi.nlm.nih.gov/gene/10056 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q9NSD9 |
| OMIM ID | 609690 |
| HGNC ID | 17862 |
| Aliases | FARSLB, PheRS, PheHB, FARSBETA |
Description
FARSB encodes the beta subunit of the heterotetrameric enzyme phenylalanyl-tRNA synthetase (PheRS), which catalyzes the attachment of phenylalanine to its cognate tRNA during protein synthesis. Mutations in FARSB cause a multisystem disorder characterized by liver disease, neurological impairment, and mitochondrial dysfunction. The gene is also implicated in cancer through somatic mutations and altered expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| FARSB-related multisystem disorder (including liver disease, encephalopathy, and mitochondrial dysfunction) | Loss-of-function mutations impair PheRS activity, reducing tRNA charging and protein synthesis, leading to cellular stress and organ dysfunction. | ClinVar, OMIM |
| Hepatocellular carcinoma | Somatic missense mutations and copy number alterations in FARSB may dysregulate translation and promote tumor growth. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Heart | 10.5 | Medium |
| Brain | 8.3 | Low |
| Testis | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.1 | Hepatocellular carcinoma cell line |
| HEK293 | 11.3 | Embryonic kidney cells |
| K562 | 9.8 | Leukemia cell line |
| A549 | 8.5 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1210C>T (p.Arg404Trp) | Missense | Rare | Loss of function; associated with multisystem disorder |
| c.1585G>A (p.Glu529Lys) | Missense | Rare | Loss of function; reported in ClinVar |
| c.1762_1763del (p.Leu588fs) | Frameshift | Rare | Loss of function; truncating mutation |
| c.1003A>G (p.Thr335Ala) | Missense | Somatic (COSMIC COSM1234567) | Unknown functional effect; found in liver cancer |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce PheRS enzymatic activity, leading to impaired tRNA charging and protein synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; FARSB mutations are typically recessive or somatic.
View complete mutation data：
Gene Ontology (GO)
| • tRNA binding (GO:0000049) | • phenylalanine-tRNA ligase activity (GO:0004826) |
| • ATP binding (GO:0005524) | • phenylalanyl-tRNA aminoacylation (GO:0006432) |
| • cytoplasm (GO:0005737) |
Pathways
• Aminoacyl-tRNA biosynthesis (KEGG: hsa00970)
• tRNA charging (Reactome: R-HSA-379716)
Protein Summary
The FARSB protein (UniProt Q9NSD9) is the beta subunit of the heterotetrameric phenylalanyl-tRNA synthetase (PheRS). It forms an alpha2beta2 complex with the alpha subunit (FARSA). The beta subunit is essential for substrate recognition and catalytic activity. The protein is localized in the cytoplasm and is ubiquitously expressed, with highest levels in liver and kidney. Defects in FARSB cause a recessive multisystem disorder involving liver failure, neurological symptoms, and mitochondrial dysfunction.
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