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Aliases for SARS2 Gene

Aliases for SARS2 Gene

  • Seryl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Serine TRNA Ligase 2, Mitochondrial 2 3
  • Seryl-TRNA(Ser/Sec) Synthetase 3 4
  • EC 6.1.1.11 4 56
  • SerRSmt 3 4
  • SERRS 3 4
  • SARSM 3 4
  • Seryl-TRNA Synthetase, Mitochondrial 3
  • Mitochondrial Seryl-TRNA Synthetase 3
  • Serine--TRNA Ligase, Mitochondrial 3
  • Serine-TRNA Ligase, Mitochondrial 2
  • Seryl-TRNA Synthetase 2 2
  • Seryl-TRNA Synthetase 4
  • MtSerRS 3
  • SERS 3
  • SARS 3
  • SYS 3

External Ids for SARS2 Gene

Previous HGNC Symbols for SARS2 Gene

  • SARSM

Previous GeneCards Identifiers for SARS2 Gene

  • GC19M040018
  • GC19M039797
  • GC19M044081
  • GC19M044097
  • GC19M039405

Summaries for SARS2 Gene

Entrez Gene Summary for SARS2 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 mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for SARS2 Gene

SARS2 (Seryl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with SARS2 include Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome and Hyperuricemia. Among its related pathways are Gene Expression and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include aminoacyl-tRNA ligase activity. An important paralog of this gene is ENSG00000269547.

UniProtKB/Swiss-Prot for SARS2 Gene

  • 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).

Gene Wiki entry for SARS2 Gene

Additional gene information for SARS2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SARS2 Gene

Genomics for SARS2 Gene

GeneHancer (GH) Regulatory Elements for SARS2 Gene

Promoters and enhancers for SARS2 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
GH19I038928 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 582.8 +0.9 893 4 CLOCK DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 NFYC ZC3H11A SARS2 MRPS12 HNRNPL SUPT5H FBL FBXO17 PAF1 RN7SL566P PAK4 ENSG00000269688
GH19I038919 Enhancer 1.2 FANTOM5 ENCODE 31 +10.8 10755 1.5 ZNF48 YY2 ZNF662 GMEB1 ZNF184 ZSCAN16 NBN ZNF300 ZNF785 ZNF112 SUPT5H FBL HNRNPL SARS2 PAF1 RPS16 ERVK9-11 ENSG00000269688 RN7SL566P PAK4
GH19I038898 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.5 +31.0 30981 3.7 CLOCK ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 NFKBIB SIRT2 HNRNPL FBL SUPT5H ENSG00000269688 PLEKHG2 RN7SL566P ACTN4 SAMD4B
GH19I038961 Enhancer 1.3 Ensembl ENCODE dbSUPER 20.4 -31.3 -31280 0.9 PKNOX1 SIN3A ZNF2 ZNF766 ZNF213 ARID2 ZNF143 ZNF548 ATF7 RUNX3 SARS2 HNRNPL PLEKHG2 FBXO17 ENSG00000269547
GH19I038924 Enhancer 0.6 FANTOM5 ENCODE 31.6 +6.0 5987 1.6 ZMYM3 SARS2 ENSG00000267892 NFKBIB ZFP36 MAP4K1 HNRNPL MRPS12 CCER2 ENSG00000269547
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SARS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SARS2 gene promoter:

Genomic Locations for SARS2 Gene

Genomic Locations for SARS2 Gene
chr19:38,915,264-38,930,896
(GRCh38/hg38)
Size:
15,633 bases
Orientation:
Minus strand
chr19:39,405,904-39,440,495
(GRCh37/hg19)

Genomic View for SARS2 Gene

Genes around SARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SARS2 Gene

Proteins for SARS2 Gene

  • Protein details for SARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP81-SYSM_HUMAN
    Recommended name:
    Serine--tRNA ligase, mitochondrial
    Protein Accession:
    Q9NP81
    Secondary Accessions:
    • A6NHW7
    • B4DE10
    • Q9BVP3

    Protein attributes for SARS2 Gene

    Size:
    518 amino acids
    Molecular mass:
    58283 Da
    Quaternary structure:
    • Homodimer. The tRNA molecule probably binds across the dimer.
    SequenceCaution:
    • Sequence=AAH01020.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SARS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SARS2 Gene

Selected DME Specific Peptides for SARS2 Gene

Q9NP81:
  • EAWMPGR
  • SASNCTD

Post-translational modifications for SARS2 Gene

  • Ubiquitination at isoforms=2195
  • Modification sites at PhosphoSitePlus

Domains & Families for SARS2 Gene

Gene Families for SARS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SARS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NP81

UniProtKB/Swiss-Prot:

SYSM_HUMAN :
  • Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding.
  • Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily.
Domain:
  • Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily.
genes like me logo Genes that share domains with SARS2: view

Function for SARS2 Gene

Molecular function for SARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-serine + tRNA(Ser) = AMP + diphosphate + L-seryl-tRNA(Ser).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-serine + tRNA(Sec) = AMP + diphosphate + L-seryl-tRNA(Sec).
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for SARS2 Gene

Gene Ontology (GO) - Molecular Function for SARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22681889
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004828 serine-tRNA ligase activity IEA,TAS --
GO:0005524 ATP binding IEA,ISS 10764807
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with SARS2: view
genes like me logo Genes that share phenotypes with SARS2: view

Human Phenotype Ontology for SARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for SARS2 Gene

miRTarBase miRNAs that target SARS2

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for SARS2 Gene

Localization for SARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SARS2 Gene

Mitochondrion matrix.

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 SARS2 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IEA --
GO:0005739 mitochondrion ISS 10764807
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with SARS2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SARS2 Gene

Pathways & Interactions for SARS2 Gene

genes like me logo Genes that share pathways with SARS2: view

Pathways by source for SARS2 Gene

1 BioSystems pathway for SARS2 Gene
1 KEGG pathway for SARS2 Gene

UniProtKB/Swiss-Prot Q9NP81-SYSM_HUMAN

  • Pathway: Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; L-seryl-tRNA(Sec) from L-serine and tRNA(Sec): step 1/1.

Gene Ontology (GO) - Biological Process for SARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006434 seryl-tRNA aminoacylation IEA,ISS 10764807
GO:0097056 selenocysteinyl-tRNA(Sec) biosynthetic process IEA --
genes like me logo Genes that share ontologies with SARS2: view

No data available for SIGNOR curated interactions for SARS2 Gene

Drugs & Compounds for SARS2 Gene

(4) Drugs for SARS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0
L-Serine Pharma Full agonist, Agonist Weak endogenous glycine receptor agonist 0

(1) Additional Compounds for SARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with SARS2: view

Transcripts for SARS2 Gene

Unigene Clusters for SARS2 Gene

Seryl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SARS2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c
SP1: - - - - -
SP2: - - - -
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for SARS2 Gene

GeneLoc Exon Structure for
SARS2
ECgene alternative splicing isoforms for
SARS2

Expression for SARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SARS2 Gene

Protein differential expression in normal tissues from HIPED for SARS2 Gene

This gene is overexpressed in Nasal epithelium (11.9), Lymph node (7.6), and Peripheral blood mononuclear cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SARS2 Gene



Protein tissue co-expression partners for SARS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SARS2 Gene:

SARS2

SOURCE GeneReport for Unigene cluster for SARS2 Gene:

Hs.709416

Evidence on tissue expression from TISSUES for SARS2 Gene

  • Nervous system(4.8)
  • Eye(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SARS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • neck
  • parathyroid
  • pituitary gland
  • thyroid
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • kidney
  • pancreas
  • stomach
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SARS2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SARS2 Gene

Orthologs for SARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SARS2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia SARS2 33
  • 88.42 (n)
-- 34
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SARS2 33 34
  • 88.16 (n)
chimpanzee
(Pan troglodytes)
Mammalia LOC748729 33
  • 87.68 (n)
rat
(Rattus norvegicus)
Mammalia Sars2 33
  • 86.07 (n)
mouse
(Mus musculus)
Mammalia Sars2 33 16 34
  • 85.62 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 61 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 58 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sars2 33
  • 60.49 (n)
zebrafish
(Danio rerio)
Actinopterygii sars2 33 34
  • 61.54 (n)
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000991 33
  • 55.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta Aats-ser 33
  • 51.76 (n)
worm
(Caenorhabditis elegans)
Secernentea sars-2 33
  • 50.99 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR412C 33
  • 50.62 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03433g 33
  • 44.17 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIA4 33 36
  • 43.34 (n)
SES1 34
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons SRS 33
  • 47.45 (n)
rice
(Oryza sativa)
Liliopsida Os11g0610900 33
  • 49.96 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09594 33
  • 50 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC25B8.06c 33
  • 44.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14044 33
Species where no ortholog for SARS2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SARS2 Gene

ENSEMBL:
Gene Tree for SARS2 (if available)
TreeFam:
Gene Tree for SARS2 (if available)

Paralogs for SARS2 Gene

Paralogs for SARS2 Gene

(1) SIMAP similar genes for SARS2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SARS2: view

Variants for SARS2 Gene

Sequence variations from dbSNP and Humsavar for SARS2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1114167285 pathogenic, Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,917,929(-) A/G coding_sequence_variant, missense_variant
rs11544093 likely-benign, Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,926,247(-) C/T coding_sequence_variant, synonymous_variant
rs140304897 benign, uncertain-significance, not specified, Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,921,560(-) C/A/G/T coding_sequence_variant, synonymous_variant
rs144760517 benign, uncertain-significance, not specified, Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,926,258(-) G/A coding_sequence_variant, missense_variant
rs182484523 uncertain-significance, Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,918,450(-) C/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for SARS2 Gene

Variant ID Type Subtype PubMed ID
nsv1138703 CNV deletion 24896259

Variation tolerance for SARS2 Gene

Residual Variation Intolerance Score: 20.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.83; 67.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SARS2 Gene

Human Gene Mutation Database (HGMD)
SARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SARS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SARS2 Gene

Disorders for SARS2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SARS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
  • hupras
hyperuricemia
  • uricacidemia
pulmonary hypertension
  • primary pulmonary hypertension
epidemic typhus
  • sylvatic typhus
- elite association - COSMIC cancer census association via MalaCards
Search SARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYSM_HUMAN
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome (HUPRAS) [MIM:613845]: A multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely. {ECO:0000269 PubMed:21255763}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SARS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SARS2: view

No data available for Genatlas for SARS2 Gene

Publications for SARS2 Gene

  1. Characterization and tRNA recognition of mammalian mitochondrial seryl-tRNA synthetase. (PMID: 10764807) Yokogawa T … Watanabe K (The Journal of biological chemistry 2000) 2 3 4 22 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. NF-Y influences directionality of transcription from the bidirectional Mrps12/Sarsm promoter in both mouse and human cells. (PMID: 19439209) Zanotto E … Jacobs HT (Biochimica et biophysica acta 2009) 3 22 58
  4. Modulation of Mrps12/Sarsm promoter activity in response to mitochondrial stress. (PMID: 18755224) Zanotto E … Jacobs HT (Biochimica et biophysica acta 2008) 3 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for SARS2 Gene

Sources for SARS2 Gene

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