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 chro... See more...

Aliases for FARSB Gene

Aliases for FARSB Gene

  • Phenylalanyl-TRNA Synthetase Subunit Beta 2 3 5
  • FRSB 2 3 4
  • Phenylalanyl-TRNA Synthetase-Like, Beta Subunit 2 3
  • Phenylalanine TRNA Ligase 1, Beta, Cytoplasmic 2 3
  • Phenylalanyl-TRNA Synthetase Beta Subunit 3 4
  • Phenylalanine--TRNA Ligase Beta Subunit 3 4
  • EC 6.1.1.20 4 51
  • FARSLB 3 4
  • PheHB 2 3
  • PheRS 3 4
  • Phenylalanine-TRNA Synthetase-Like, Beta Subunit 3
  • Phenylalanyl-TRNA Synthetase Beta Chain 3
  • Phenylalanine-TRNA Ligase Beta Chain 3
  • EC 6.1.1 51
  • HSPC173 3
  • NEDBLLA 3
  • RILDBC 3
  • FARSB 5

External Ids for FARSB Gene

Previous HGNC Symbols for FARSB Gene

  • FARSLB

Previous GeneCards Identifiers for FARSB Gene

  • GC02M223144
  • GC02M223435
  • GC02M215289

Summaries for FARSB Gene

Entrez Gene Summary for FARSB Gene

  • 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]

GeneCards Summary for FARSB Gene

FARSB (Phenylalanyl-TRNA Synthetase Subunit Beta) is a Protein Coding gene. Diseases associated with FARSB include Rajab Interstitial Lung Disease With Brain Calcifications and Liver Cirrhosis. Among its related pathways are tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include RNA binding and magnesium ion binding. An important paralog of this gene is LRRC47.

Gene Wiki entry for FARSB Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FARSB Gene

Genomics for FARSB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FARSB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J222654 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 605.8 +0.1 146 3.7 SP1 HNRNPL CREB1 POLR2A TARDBP LARP7 STAT3 ZNF143 RBFOX2 PKNOX1 FARSB lnc-MOGAT1-3 LOC100420353 SGPP2
GH02J222690 Enhancer 1.1 Ensembl ENCODE 17.3 -33.8 -33809 2.6 GATAD2A CTCF TFE3 NFKBIZ JUND ZNF143 RXRB REST RAD21 IRF2 FARSB ACSL3 ACSL3-AS1 SNODB1666 RRAS2P2 lnc-FARSB-4 MOGAT1
GH02J222707 Enhancer 1.2 ENCODE CraniofacialAtlas 10.6 -52.7 -52672 3.3 GATAD2A CTCF ATF7 PRDM10 ZNF629 TFE3 ZNF512 LEF1 IKZF1 NFKBIZ ACSL3 MOGAT1 ACSL3-AS1 FARSB RPL31P17 lnc-MOGAT1-2 ENSG00000203531 lnc-FARSB-5
GH02J222903 Enhancer 1 Ensembl ENCODE 11.6 -249.6 -249628 8.6 GATAD2A CTCF ATF7 NFKBIZ RCOR2 FOXA1 REST RAD21 TRIM22 CEBPA ATG12P2 lnc-FARSB-7 ACSL3 FARSB ENSG00000203531 ACSL3-AS1 KCNE4
GH02J222671 Promoter/Enhancer 1.2 Ensembl ENCODE 9.3 -15.9 -15909 2 HNRNPL GATAD2A CTCF ATF7 TEAD4 TFE3 NFKBIZ RBFOX2 RXRB IRF2 MOGAT1 ACSL3 ACSL3-AS1 FARSB RRAS2P2 lnc-FARSB-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FARSB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FARSB

Top Transcription factor binding sites by QIAGEN in the FARSB gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • GCNF-2
  • HOXA5
  • LUN-1
  • NF-1
  • NF-1/L
  • POU2F1
  • POU2F1a

Genomic Locations for FARSB Gene

Genomic Locations for FARSB Gene
chr2:222,566,899-222,656,092
(GRCh38/hg38)
Size:
89,194 bases
Orientation:
Minus strand
chr2:223,435,255-223,521,056
(GRCh37/hg19)
Size:
85,802 bases
Orientation:
Minus strand

Genomic View for FARSB Gene

Genes around FARSB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FARSB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FARSB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FARSB Gene

Proteins for FARSB Gene

  • Protein details for FARSB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSD9-SYFB_HUMAN
    Recommended name:
    Phenylalanine--tRNA ligase beta subunit
    Protein Accession:
    Q9NSD9
    Secondary Accessions:
    • B4DFM0
    • O95708
    • Q4ZFX1
    • Q57ZJ5
    • Q9NZZ6

    Protein attributes for FARSB Gene

    Size:
    589 amino acids
    Molecular mass:
    66116 Da
    Quaternary structure:
    • Heterotetramer; dimer of two heterodimers formed by FARSA and FARSB.

    Three dimensional structures from OCA and Proteopedia for FARSB Gene

    Alternative splice isoforms for FARSB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FARSB Gene

Selected DME Specific Peptides for FARSB Gene

Q9NSD9:
  • IKFKPLN
  • GLELDEITSEK
  • AGFTEALTF
  • EDAAIAYGY
  • VKRDLLF
  • EKLHQNI
  • QFPLNKLTE
  • LVAIGTHD
  • SMPPIIN

Post-translational modifications for FARSB Gene

  • Ubiquitination at Lys64, Lys329, and Lys560
  • Modification sites at PhosphoSitePlus

Other Protein References for FARSB Gene

Antibody Products

  • Abcam antibodies for FARSB
  • Boster Bio Antibodies for FARSB
  • Santa Cruz Biotechnology (SCBT) Antibodies for FARSB

Domains & Families for FARSB Gene

Gene Families for FARSB Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for FARSB Gene

Suggested Antigen Peptide Sequences for FARSB Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57266, highly similar to Phenylalanyl-tRNA synthetase beta chain (EC 6.1.1.20) (B4DFM0_HUMAN)
  • FARSB protein (Q9BR63_HUMAN)
  • Phenylalanine--tRNA ligase beta chain (SYFB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NSD9

UniProtKB/Swiss-Prot:

SYFB_HUMAN :
  • Belongs to the phenylalanyl-tRNA synthetase beta subunit family. Type 2 subfamily.
Family:
  • Belongs to the phenylalanyl-tRNA synthetase beta subunit family. Type 2 subfamily.
genes like me logo Genes that share domains with FARSB: view

Function for FARSB Gene

Molecular function for FARSB Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe); Xref=Rhea:RHEA:19413, Rhea:RHEA-COMP:9668, Rhea:RHEA-COMP:9699, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58095, ChEBI:CHEBI:78442, ChEBI:CHEBI:78531, ChEBI:CHEBI:456215; EC=6.1.1.20; Evidence={ECO:0000269|PubMed:20223217};.

Enzyme Numbers (IUBMB) for FARSB Gene

Phenotypes From GWAS Catalog for FARSB Gene

Gene Ontology (GO) - Molecular Function for FARSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0003723 RNA binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004826 phenylalanine-tRNA ligase activity TAS,IDA 20223217
genes like me logo Genes that share ontologies with FARSB: view
genes like me logo Genes that share phenotypes with FARSB: view

Human Phenotype Ontology for FARSB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FARSB

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for FARSB Gene

Localization for FARSB Gene

Subcellular locations from UniProtKB/Swiss-Prot for FARSB Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FARSB gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FARSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 10049785
GO:0005829 cytosol TAS --
GO:0009328 phenylalanine-tRNA ligase complex IBA,IDA 20223217
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with FARSB: view

Pathways & Interactions for FARSB Gene

genes like me logo Genes that share pathways with FARSB: view

Pathways by source for FARSB Gene

1 BioSystems pathway for FARSB Gene
1 KEGG pathway for FARSB Gene

Gene Ontology (GO) - Biological Process for FARSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation TAS 10049785
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006432 phenylalanyl-tRNA aminoacylation IBA,IDA 20223217
GO:0051290 protein heterotetramerization IDA 20223217
genes like me logo Genes that share ontologies with FARSB: view

No data available for SIGNOR curated interactions for FARSB Gene

Drugs & Compounds for FARSB Gene

(4) Drugs for FARSB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenylalanine Approved, Investigational Nutra Target 256
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(4) Additional Compounds for FARSB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with FARSB: view

Transcripts for FARSB Gene

mRNA/cDNA for FARSB Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FARSB

Alternative Splicing Database (ASD) splice patterns (SP) for FARSB Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - -
SP2: -
SP3: -
SP4:

Relevant External Links for FARSB Gene

GeneLoc Exon Structure for
FARSB

Expression for FARSB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FARSB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FARSB Gene

This gene is overexpressed in Breast (7.1) and Peripheral blood mononuclear cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FARSB Gene



Protein tissue co-expression partners for FARSB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FARSB

SOURCE GeneReport for Unigene cluster for FARSB Gene:

Hs.471452

Evidence on tissue expression from TISSUES for FARSB Gene

  • Nervous system(4.9)
  • Blood(4.4)
  • Skin(2.9)
  • Liver(2.3)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with FARSB: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FARSB Gene

Orthologs for FARSB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FARSB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FARSB 30 31
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 95 (a)
OneToMany
FARSB 30
  • 92.64 (n)
-- 31
  • 75 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia FARSB 30 31
  • 90.21 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Farsb 30
  • 87.72 (n)
Mouse
(Mus musculus)
Mammalia Farsb 30 17 31
  • 87.27 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FARSB 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 84 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
Chicken
(Gallus gallus)
Aves FARSB 30 31
  • 78.12 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FARSB 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia farsb 30
  • 72.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia frsb-prov 30
Zebrafish
(Danio rerio)
Actinopterygii farsb 30 31
  • 69.9 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9004 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG5706 30 31
  • 60.52 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003517 30
  • 59.73 (n)
Worm
(Caenorhabditis elegans)
Secernentea fars-3 30 31
  • 59.98 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05137g 30
  • 54.67 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRS1 30 31 33
  • 54.2 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR219W 30
  • 53.39 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G72550 30
  • 57.95 (n)
Soybean
(Glycine max)
eudicotyledons Gma.2819 30
Rice
(Oryza sativa)
Liliopsida Os05g0558900 30
  • 55.44 (n)
Os.5132 30
Barley
(Hordeum vulgare)
Liliopsida Hv.8880 30
Corn
(Zea mays)
Liliopsida Zm.12166 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2834 31
  • 57 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes frs1 30
  • 53.57 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU08888 30
  • 52.27 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1025 30
Species where no ortholog for FARSB was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FARSB Gene

ENSEMBL:
Gene Tree for FARSB (if available)
TreeFam:
Gene Tree for FARSB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FARSB: view image

Paralogs for FARSB Gene

Paralogs for FARSB Gene

(1) SIMAP similar genes for FARSB Gene using alignment to 3 proteins:

  • SYFB_HUMAN
  • F5H6Y1_HUMAN
  • Q9BR63_HUMAN

Pseudogenes.org Pseudogenes for FARSB Gene

genes like me logo Genes that share paralogs with FARSB: view

Variants for FARSB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FARSB Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1396171148 Pathogenic: Cirrhosis of liver; Cerebral calcification; Dilatation; Interstitial pneumonitis; Rajab interstitial lung disease with brain calcifications. Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658] 222,613,892(-) T/Gp.Thr461Pro MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1419129874 Pathogenic: Cirrhosis of liver; Cerebral calcification; Dilatation; Interstitial pneumonitis. Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658] 222,642,894(-) A/Gp.Cys76Arg MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1466642025 Pathogenic: Cirrhosis of liver; Cerebral calcification; Dilatation; Interstitial pneumonitis; Rajab interstitial lung disease with brain calcifications. Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658] 222,631,635(-) A/Gp.Phe252Ser MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1553549333 Pathogenic: Rajab interstitial lung disease with brain calcifications; Interstitial lung and liver disease; not provided 222,600,060(-) G/TT FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1553553086 Pathogenic: Cirrhosis of liver; Cerebral calcification; Dilatation; Interstitial pneumonitis; Rajab interstitial lung disease with brain calcifications. Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658] 222,623,699(-) C/Tp.Arg401Gln MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for FARSB Gene

Structural Variations from Database of Genomic Variants (DGV) for FARSB Gene

Variant ID Type Subtype PubMed ID
dgv20e197 CNV deletion 19546169
dgv2155n106 CNV deletion 24896259
esv1000228 CNV deletion 20482838
esv1232411 CNV deletion 17803354
esv2377277 CNV deletion 18987734
esv2585241 CNV deletion 19546169
esv2721518 CNV deletion 23290073
esv2721519 CNV deletion 23290073
esv3561050 CNV deletion 23714750
esv3594426 CNV loss 21293372
esv3729 CNV loss 18987735
esv5526 CNV loss 19470904
nsv1072071 CNV deletion 25765185
nsv1145735 CNV deletion 26484159
nsv834551 CNV gain+loss 17160897
nsv955033 CNV deletion 24416366
nsv963776 CNV duplication 23825009

Variation tolerance for FARSB Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.90; 35.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FARSB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FARSB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FARSB Gene

Disorders for FARSB Gene

MalaCards: The human disease database

(6) MalaCards diseases for FARSB Gene - From: UniProtKB/Swiss-Prot, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FARSB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYFB_HUMAN
  • Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658]: An autosomal recessive, lethal neurodevelopmental disorder characterized by multiple clinical manifestations including intrauterine growth restriction, failure to thrive, developmental delay, hypotonia, interstitial lung disease, and liver dysfunction. Brain imaging shows abnormal periventricular white matter, basal ganglia echogenicity, cerebral volume loss, incomplete closure of the Sylvian fissures, and normal myelination. {ECO:0000269 PubMed:29573043, ECO:0000269 PubMed:29979980, ECO:0000269 PubMed:30014610}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FARSB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FARSB: view

No data available for Genatlas for FARSB Gene

Publications for FARSB Gene

  1. Human phenylalanyl-tRNA synthetase: cloning, characterization of the deduced amino acid sequences in terms of the structural domains and coordinately regulated expression of the alpha and beta subunits in chronic myeloid leukemia cells. (PMID: 10049785) Rodova M … Safro MG (Biochemical and biophysical research communications 1999) 2 3 4 23
  2. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. (PMID: 29573043) Antonellis A … Innis JW (Human mutation 2018) 3 4
  3. Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. (PMID: 30014610) Zadjali F … Al-Maawali A (Human mutation 2018) 3 4
  4. Structure of human cytosolic phenylalanyl-tRNA synthetase: evidence for kingdom-specific design of the active sites and tRNA binding patterns. (PMID: 20223217) Finarov I … Safro MG (Structure (London, England : 1993) 2010) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for FARSB Gene

  • Signalway Proteins for FARSB

Sources for FARSB Gene