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.	54938
Gene name Gene Name - the full gene name approved by the HGNC.	Seryl-tRNA synthetase 2, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SARS2
Synonyms (NCBI Gene) Gene synonyms aliases	SARS, SARSM, SERS, SYS, SerRS, SerRSmt, mtSerRS
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IBA	21873635
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004828	Function	Serine-tRNA ligase activity	IBA	21873635
GO:0004828	Function	Serine-tRNA ligase activity	ISS	10764807
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	ISS	10764807
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	ISS	10764807
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006434	Process	Seryl-tRNA aminoacylation	IBA	21873635
GO:0006434	Process	Seryl-tRNA aminoacylation	ISS	10764807
GO:0070158	Process	Mitochondrial seryl-tRNA aminoacylation	IBA	21873635
GO:0097056	Process	Selenocysteinyl-tRNA(Sec) biosynthetic process	IEA

MIM	HGNC	e!Ensembl
612804	17697	ENSG00000104835

Protein

UniProt ID

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

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome, Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	rs727502784, rs1114167285	24034276, 21255763, 27604308
Kidney disease	Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424 View all (116 more)

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Mitochondrial Diseases	mitochondrial disease	GenCC
Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome	hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	GenCC
Diabetes	Diabetes	GWAS

SARS2 (seryl-tRNA synthetase 2, mitochondrial)