Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10056
Gene name Gene Name - the full gene name approved by the HGNC.	Phenylalanyl-tRNA synthetase subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FARSB
Synonyms (NCBI Gene) Gene synonyms aliases	FARSLB, FRSB, HSPC173, NEDBLLA, PheHB, PheRS, RILDBC, RILDBC1, RJBS
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q36.1
Summary Summary of gene provided in NCBI Entrez 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

Show/Hide all(10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs753710639	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs767956337	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs773579570	C>T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs777071414	C>G,T	Pathogenic	Splice donor variant
rs1396171148	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1419129874	A>G	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs1466642025	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1553549333	G>TT	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553553086	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553554543	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all(51)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048577	hsa-miR-100-5p	CLASH	23622248
MIRT041199	hsa-miR-193b-3p	CLASH	23622248
MIRT037617	hsa-miR-744-5p	CLASH	23622248
MIRT518613	hsa-miR-590-3p	PAR-CLIP	23446348
MIRT518612	hsa-miR-3681-5p	PAR-CLIP	23446348
MIRT518611	hsa-miR-6849-5p	PAR-CLIP	23446348
MIRT518610	hsa-miR-4735-5p	PAR-CLIP	23446348
MIRT518608	hsa-miR-1273f	PAR-CLIP	23446348
MIRT518609	hsa-miR-4683	PAR-CLIP	23446348
MIRT518607	hsa-miR-4775	PAR-CLIP	23446348
MIRT518606	hsa-miR-4727-3p	PAR-CLIP	23446348
MIRT518605	hsa-miR-1270	PAR-CLIP	23446348
MIRT518604	hsa-miR-620	PAR-CLIP	23446348
MIRT518603	hsa-miR-3591-5p	PAR-CLIP	23446348
MIRT518602	hsa-miR-6083	PAR-CLIP	23446348
MIRT518613	hsa-miR-590-3p	PAR-CLIP	23446348
MIRT518612	hsa-miR-3681-5p	PAR-CLIP	23446348
MIRT518611	hsa-miR-6849-5p	PAR-CLIP	23446348
MIRT518610	hsa-miR-4735-5p	PAR-CLIP	23446348
MIRT518608	hsa-miR-1273f	PAR-CLIP	23446348
MIRT518609	hsa-miR-4683	PAR-CLIP	23446348
MIRT518607	hsa-miR-4775	PAR-CLIP	23446348
MIRT518606	hsa-miR-4727-3p	PAR-CLIP	23446348
MIRT518605	hsa-miR-1270	PAR-CLIP	23446348
MIRT518604	hsa-miR-620	PAR-CLIP	23446348
MIRT518603	hsa-miR-3591-5p	PAR-CLIP	23446348
MIRT518602	hsa-miR-6083	PAR-CLIP	23446348
MIRT989468	hsa-miR-1228	CLIP-seq
MIRT989469	hsa-miR-140-3p	CLIP-seq
MIRT989470	hsa-miR-3123	CLIP-seq
MIRT989471	hsa-miR-450b-3p	CLIP-seq
MIRT989472	hsa-miR-4646-5p	CLIP-seq
MIRT989473	hsa-miR-4713-3p	CLIP-seq
MIRT989474	hsa-miR-4747-5p	CLIP-seq
MIRT989475	hsa-miR-638	CLIP-seq
MIRT989476	hsa-miR-769-3p	CLIP-seq
MIRT1993268	hsa-miR-1197	CLIP-seq
MIRT1993269	hsa-miR-183	CLIP-seq
MIRT989470	hsa-miR-3123	CLIP-seq
MIRT1993270	hsa-miR-320e	CLIP-seq
MIRT1993271	hsa-miR-339-5p	CLIP-seq
MIRT1993272	hsa-miR-4477b	CLIP-seq
MIRT989472	hsa-miR-4646-5p	CLIP-seq
MIRT989474	hsa-miR-4747-5p	CLIP-seq
MIRT1993273	hsa-miR-4774-5p	CLIP-seq
MIRT1993274	hsa-miR-765	CLIP-seq
MIRT2227112	hsa-miR-1301	CLIP-seq
MIRT2227113	hsa-miR-377	CLIP-seq
MIRT2227114	hsa-miR-4660	CLIP-seq
MIRT2227115	hsa-miR-5047	CLIP-seq
MIRT1993274	hsa-miR-765	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0000287	Function	Magnesium ion binding	ISS
GO:0003723	Function	RNA binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004826	Function	Phenylalanine-tRNA ligase activity	IDA	20223217
GO:0004826	Function	Phenylalanine-tRNA ligase activity	IEA
GO:0004826	Function	Phenylalanine-tRNA ligase activity	TAS	10049785
GO:0005515	Function	Protein binding	IPI	20223217, 28514442, 32296183, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	20223217
GO:0005737	Component	Cytoplasm	TAS	10049785
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	TAS	10049785
GO:0006432	Process	Phenylalanyl-tRNA aminoacylation	IBA
GO:0006432	Process	Phenylalanyl-tRNA aminoacylation	IDA	20223217
GO:0006432	Process	Phenylalanyl-tRNA aminoacylation	IEA
GO:0009328	Component	Phenylalanine-tRNA ligase complex	IBA
GO:0009328	Component	Phenylalanine-tRNA ligase complex	IDA	20223217
GO:0009328	Component	Phenylalanine-tRNA ligase complex	IPI	20223217
GO:0016020	Component	Membrane	HDA	19946888
GO:0016874	Function	Ligase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051290	Process	Protein heterotetramerization	IDA	20223217

MIM	HGNC	e!Ensembl
609690	17800	ENSG00000116120

Protein

UniProt ID

Q9NSD9

Protein name

Phenylalanine--tRNA ligase beta subunit (EC 6.1.1.20) (Phenylalanyl-tRNA synthetase beta subunit) (PheRS)

PDB

3L4G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18262	PhetRS_B1	1 → 90	Phe-tRNA synthetase beta subunit B1 domain	Domain
PF03483	B3_4	117 → 279	B3/4 domain	Domain
PF03484	B5	308 → 374	tRNA synthetase B5 domain	Domain
PF17759	tRNA_synthFbeta	377 → 585	Phenylalanyl tRNA synthetase beta chain CLM domain	Domain

Sequence

MPTVSVKRDLLFQALGRTYTDEEFDELCFEFGLELDEITSEKEIISKEQGNVKAAGASDV
VLYKIDVPANRYDLLCLEGLVRGLQVFKERIKAPVYKRVMPDGKIQKLIITEETAKIRPF
AVAAVLRNIKFTKDRYDSFIELQEKLHQNICRKRALVAIGTHDLDTLSGPFTYTAKRPSD
IKFKPLNKTKEYTACELMNIYKTDNHLKHYLHIIENKPLYPVIYDSNGVVLSMPPIINGD
HSRITVNTRNIFIECTGTDFTKAKIVLDIIVTMFSEYCENQFTVEAAEVVFPNGKSHTFP
ELAYRKEMVRADLINKKVGIRETPENLAKLLTRMYLKSEVIGDGNQIEIEIPPTRADIIH
ACDIVEDAAIAYGYNNIQMTLPKTYTIANQFPLNKLTELLRHDMAAAGFTEALTFALCSQ
EDIADKLGVDISATKAVHISNPKTAEFQVARTTLLPGLLKTIAANRKMPLPLKLFEISDI
VIKDSNTDVGAKNYRHLCAVYYNKNPGFEIIHGLLDRIMQLLDVPPGEDKGGYVIKASEG
PAFFPGRCAEIFARGQSVGKLGVLHPDVITKFELTMPCSSLEINVGPFL

Sequence length

589

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Cytosolic tRNA aminoacylation

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Pulmonary Alveolar Proteinosis	severe early-onset pulmonary alveolar proteinosis due to mars deficiency	rs1553549333	N/A
Rajab interstitial lung disease with brain calcifications	Rajab interstitial lung disease with brain calcifications 1	rs777071414, rs767956337	N/A

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Brain Diseases	Associate	35132614
Breast Neoplasms	Associate	40497472
Carcinoma Hepatocellular	Stimulate	37074800, 38069034
Carcinoma Hepatocellular	Associate	40621461
Facial Dysmorphism with Multiple Malformations	Associate	35132614
Fibrosis	Associate	29979980
Lung Diseases Interstitial	Associate	35132614
Neoplasm Metastasis	Stimulate	34159625
Neoplasms	Associate	34159625, 37074800, 40497472
Stomach Neoplasms	Stimulate	34159625, 37074800

FARSB (phenylalanyl-tRNA synthetase subunit beta)