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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54938
Gene name	Seryl-tRNA synthetase 2, mitochondrial
Gene symbol	SARS2
Synonyms (NCBI Gene)	SARSSARSMSERSSYSSerRSSerRSmtmtSerRS
Chromosome	19
Chromosome location	19q13.2
Summary	This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mit

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201347156	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs863224195	C>T	Pathogenic	Splice donor variant
rs1114167285	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs1600163739	T>G	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (47)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049346	hsa-miR-92a-3p	CLASH	23622248
MIRT043094	hsa-miR-324-5p	CLASH	23622248
MIRT041208	hsa-miR-193b-3p	CLASH	23622248
MIRT1326327	hsa-miR-1236	CLIP-seq
MIRT1326328	hsa-miR-1827	CLIP-seq
MIRT1326329	hsa-miR-1915	CLIP-seq
MIRT1326330	hsa-miR-1976	CLIP-seq
MIRT1326331	hsa-miR-24	CLIP-seq
MIRT1326332	hsa-miR-3140-5p	CLIP-seq
MIRT1326333	hsa-miR-3150b-3p	CLIP-seq
MIRT1326334	hsa-miR-3921	CLIP-seq
MIRT1326335	hsa-miR-3934	CLIP-seq
MIRT1326336	hsa-miR-4436a	CLIP-seq
MIRT1326337	hsa-miR-4437	CLIP-seq
MIRT1326338	hsa-miR-4522	CLIP-seq
MIRT1326339	hsa-miR-4539	CLIP-seq
MIRT1326340	hsa-miR-4649-3p	CLIP-seq
MIRT1326341	hsa-miR-4653-5p	CLIP-seq
MIRT1326342	hsa-miR-4669	CLIP-seq
MIRT1326343	hsa-miR-4680-5p	CLIP-seq
MIRT1326344	hsa-miR-4714-5p	CLIP-seq
MIRT1326345	hsa-miR-4726-3p	CLIP-seq
MIRT1326346	hsa-miR-4784	CLIP-seq
MIRT1326347	hsa-miR-508-5p	CLIP-seq
MIRT1326348	hsa-miR-545	CLIP-seq
MIRT1326349	hsa-miR-665	CLIP-seq
MIRT1326350	hsa-miR-671-5p	CLIP-seq
MIRT1326333	hsa-miR-3150b-3p	CLIP-seq
MIRT1326346	hsa-miR-4784	CLIP-seq
MIRT2321185	hsa-miR-3160-3p	CLIP-seq
MIRT2321186	hsa-miR-3660	CLIP-seq
MIRT2321187	hsa-miR-4526	CLIP-seq
MIRT2321188	hsa-miR-4800-5p	CLIP-seq
MIRT2321189	hsa-miR-711	CLIP-seq
MIRT2321188	hsa-miR-4800-5p	CLIP-seq
MIRT2321189	hsa-miR-711	CLIP-seq
MIRT1326328	hsa-miR-1827	CLIP-seq
MIRT1326333	hsa-miR-3150b-3p	CLIP-seq
MIRT1326334	hsa-miR-3921	CLIP-seq
MIRT1326338	hsa-miR-4522	CLIP-seq
MIRT1326340	hsa-miR-4649-3p	CLIP-seq
MIRT1326341	hsa-miR-4653-5p	CLIP-seq
MIRT2617366	hsa-miR-4685-5p	CLIP-seq
MIRT1326344	hsa-miR-4714-5p	CLIP-seq
MIRT1326346	hsa-miR-4784	CLIP-seq
MIRT2321188	hsa-miR-4800-5p	CLIP-seq
MIRT2321189	hsa-miR-711	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004828	Function	Serine-tRNA ligase activity	IBA
GO:0004828	Function	Serine-tRNA ligase activity	IEA
GO:0004828	Function	Serine-tRNA ligase activity	ISS	10764807
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS	10764807
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS	10764807
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006434	Process	Seryl-tRNA aminoacylation	IEA
GO:0006434	Process	Seryl-tRNA aminoacylation	ISS	10764807
GO:0016874	Function	Ligase activity	IEA
GO:0070158	Process	Mitochondrial seryl-tRNA aminoacylation	IBA

MIM	HGNC	e!Ensembl
612804	17697	ENSG00000104835

Q9NP81

Protein name

Serine--tRNA ligase, mitochondrial (EC 6.1.1.11) (SerRSmt) (Seryl-tRNA synthetase) (SerRS) (Seryl-tRNA(Ser/Sec) synthetase)

Protein function

Catalyzes the attachment of serine to tRNA(Ser). Is also probably able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec). {ECO:0000250|UniProtKB:

PDB

7TZB , 7U2A , 7U2B , 7YDF , 7YDG , 8FFY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00587	tRNA-synt_2b	284 → 468	tRNA synthetase class II core domain (G, H, P, S and T)	Domain

Sequence

MAASMARRLWPLLTRRGFRPRGGCISNDSPRRSFTTEKRNRNLLYEYAREGYSALPQLDI
ERFCACPEEAAHALELRKGELRSADLPAIISTWQELRQLQEQIRSLEEEKAAVTEAVRAL
LANQDSGEVQQDPKYQGLRARGREIRKELVHLYPREAQLEEQFYLQALKLPNQTHPDVPV
GDESQARVLHMVGDKPVFSFQPRGHLEIGEKLDIIRQKRLSHVSGHRSYYLRGAGALLQH
GLVNFTFNKLLRRGFTPMTVPDLLRGAVFEGCGMTPNANPSQIYNIDPARFKDLNLAGTA
EVGLAGYFMDHTVAFRDLPVRMVCSSTCYRAETNTGQEPRGLYRVHHFTKVEMFGVTGPG
LEQSSQLLEEFLSLQMEILTELGLHFRVLDMPTQELGLPAYRKFDIEAWMPGRGRFGEVT
SASNCTDFQSRRLHIMFQTEAGELQFAHTVNATACAVPRLLIALLESNQQKDGSVLVPPA
LQSYLGTDRITAPTHVPLQYIGPNQPRKPGLPGQPAVS

Sequence length

518

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Mitochondrial tRNA aminoacylation

139

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Pathogenic; Likely pathogenic	rs1114167285, rs727502784	RCV000491254 RCV000023973
SARS2-associated condition	Likely pathogenic	rs1600163739	RCV000791296

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs370612303	RCV005886819
Familial cancer of breast	Conflicting classifications of pathogenicity	rs528674259, rs201988841	RCV005893544 RCV005924160
Gastric cancer	Uncertain significance; Benign	rs141084630, rs59785584	RCV005930956 RCV005903876
SARS2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	rs370612303, rs116583253, rs551671819, rs373754523, rs528674259, rs766448244, rs780035635, rs565848512, rs200202461, rs372151812	RCV003925265 RCV003905218 RCV003967522 RCV004757164 RCV003937742 RCV003929320 RCV003893319 RCV003954442 RCV003905579 RCV003918308
Thymoma	Benign	rs59785584	RCV005903878
Uterine carcinosarcoma	Benign	rs59785584	RCV005903877
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs370612303	RCV005886820

SARS2 (seryl-tRNA synthetase 2, mitochondrial)