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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SARS2-associated condition	Likely pathogenic	rs1600163739	RCV000791296	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARS2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (56)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	30985968	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16833124, 27991632	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	17913799	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27714088, 30353718, 31050289	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30764779	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15858003, 16571117	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30172552	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	18727488	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	16103185, 24129118	★★★★★ ★☆☆☆☆ Found in Text Mining only
ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION	Encephalitis/Encephalopathy With Reversible Myelin Vacuolization	BEFREE	29064679	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	17913799	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	21255763	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome	ORPHANET_DG	21255763	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome	UNIPROT_DG	21255763	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome	GENOMICS_ENGLAND_DG	21255763, 24034276, 27604308	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome	BEFREE	24034276, 27279129	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome	CTD_human_DG		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome	CLINVAR_DG		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome	Orphanet		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypochloremic metabolic alkalosis	Hypochloremia	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28236339	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15163706	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	15163706	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	19685004, 24362959, 27082314	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16833124, 27991632	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30238748	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27714088, 30353718, 31050289	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30745282	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21559002, 29901677	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27714088, 28079954, 30141616	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31766690	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	LHGDN	16133542	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18727488	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	16645153	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17258782, 31462377, 31617008	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	30301856	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30745282	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21559002, 29901677	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19420084	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30172552	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30288519	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	23486063, 24027335, 24198408, 25609816, 30301856	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	15381116, 19420084, 24217413	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	18495771	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	22072787, 23486063, 24027335, 24198408, 25609816, 30301856	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	12791172, 14519257, 14652014, 15004042, 15010527, 15030703, 15031027, 15070991, 15131154, 15131168, 15163419, 15163706, 15194496, 15200810, 15306391 View all (147 more)	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	15163706	★★★★★ ★☆☆☆☆ Found in Text Mining only

SARS2 (seryl-tRNA synthetase 2, mitochondrial)