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Aliases for SARS2 Gene

Aliases for SARS2 Gene

  • Seryl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Serine-TRNA Ligase, Mitochondrial 2 3
  • Seryl-TRNA(Ser/Sec) Synthetase 3 4
  • EC 6.1.1.11 4 63
  • SerRSmt 3 4
  • SERRS 3 4
  • SARSM 3 4
  • Seryl-TRNA Synthetase, Mitochondrial 3
  • Mitochondrial Seryl-TRNA Synthetase 3
  • Serine TRNA Ligase 2, Mitochondrial 3
  • Seryl-TRNA Synthetase 2 2
  • Seryl-TRNA Synthetase 4
  • Serine TRNA Ligase 2 2
  • Mitochondrial 2
  • 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 and hyperuricemia. Among its related pathways are Gene Expression and Metabolism. GO annotations related to this gene include poly(A) RNA binding and 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 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) (By similarity).

Gene Wiki entry for SARS2 Gene

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

Genomics for SARS2 Gene

Regulatory Elements for SARS2 Gene

Promoters for SARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SARS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SARS2 Gene

Chromosome:
19
Start:
38,915,264 bp from pter
End:
38,930,896 bp from pter
Size:
15,633 bases
Orientation:
Minus strand

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 binds across the dimer (By similarity).
    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

Proteomics data for SARS2 Gene at MOPED

Selected DME Specific Peptides for SARS2 Gene

Post-translational modifications for SARS2 Gene

  • Ubiquitination at Lys 195
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for SARS2 Gene

Gene Families for SARS2 Gene

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 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) (By similarity).

Enzyme Numbers (IUBMB) for SARS2 Gene

Gene Ontology (GO) - Molecular Function for SARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004812 aminoacyl-tRNA 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

Animal Model Products

miRNA for SARS2 Gene

miRTarBase miRNAs that target SARS2

No data available for 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
Jensen Localization Image for SARS2 Gene COMPARTMENTS Subcellular localization image for SARS2 gene
Compartment Confidence
mitochondrion 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components 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

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:0006434 seryl-tRNA aminoacylation IEA,ISS 10764807
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
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
L-Serine Approved Nutra Full agonist, Agonist 0
Diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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:

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 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, MOPED, and MaxQB for SARS2 Gene



SOURCE GeneReport for Unigene cluster for SARS2 Gene Hs.709416

genes like me logo Genes that share expression patterns with SARS2: view

Protein tissue co-expression partners for SARS2 Gene

Primer Products

In Situ Assay Products

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
chimpanzee
(Pan troglodytes)
Mammalia LOC748729 35
  • 87.68 (n)
  • 84.44 (a)
cow
(Bos Taurus)
Mammalia SARS2 36
  • 87 (a)
OneToMany
SARS2 35
  • 88.16 (n)
  • 87.26 (a)
dog
(Canis familiaris)
Mammalia SARS2 35
  • 88.42 (n)
  • 86.68 (a)
-- 36
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Sars2 16
Sars2 36
  • 83 (a)
OneToMany
Sars2 35
  • 85.62 (n)
  • 86.27 (a)
rat
(Rattus norvegicus)
Mammalia Sars2 35
  • 86.07 (n)
  • 86.46 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 61 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 58 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sars2 35
  • 60.49 (n)
  • 61.25 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
sars2 35
  • 61.54 (n)
  • 60.04 (a)
sars2 36
  • 54 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000991 35
  • 55.9 (n)
  • 47.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta Aats-ser 35
  • 51.76 (n)
  • 42.55 (a)
worm
(Caenorhabditis elegans)
Secernentea sars-2 35
  • 50.99 (n)
  • 43.38 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR412C 35
  • 50.62 (n)
  • 38.77 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIA4 35
  • 43.34 (n)
  • 33.49 (a)
SES1 36
  • 22 (a)
OneToMany
DIA4 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03433g 35
  • 44.17 (n)
  • 38.35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SRS 35
  • 47.45 (n)
  • 41.1 (a)
rice
(Oryza sativa)
Liliopsida Os11g0610900 35
  • 49.96 (n)
  • 43.83 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09594 35
  • 50 (n)
  • 39.56 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC25B8.06c 35
  • 44.5 (n)
  • 37.92 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14044 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for SARS2:
  • 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 Sequence Context AA Info Type
VAR_052645 -
VAR_052646 -
rs2116853 -- 38,927,466(+) gaggt(G/T)ggagg intron-variant
rs4801945 -- 38,916,374(+) AGGAA(A/C)AAATG intron-variant
rs4801955 -- 38,927,845(+) ctggc(C/T)aagat intron-variant

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)

Relevant External Links for SARS2 Gene

HapMap Linkage Disequilibrium report
SARS2
Human Gene Mutation Database (HGMD)
SARS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SARS2 Gene

Disorders for SARS2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SARS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
  • hupra syndrome
hyperuricemia
  • uricacidemia
reticulate acropigmentation of kitamura
  • rapk
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
pulmonary hypertension
  • primary pulmonary hypertension
- 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.

Relevant External Links for SARS2

Genetic Association Database (GAD)
SARS2
Human Genome Epidemiology (HuGE) Navigator
SARS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SARS2
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. (J. Biol. Chem. 2000) 2 3 4 23 67
  2. NF-Y influences directionality of transcription from the bidirectional Mrps12/Sarsm promoter in both mouse and human cells. (PMID: 19439209) Zanotto E. … Jacobs H.T. (Biochim. Biophys. Acta 2009) 3 23
  3. Modulation of Mrps12/Sarsm promoter activity in response to mitochondrial stress. (PMID: 18755224) Zanotto E. … Jacobs H.T. (Biochim. Biophys. Acta 2008) 3 23
  4. Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families. (PMID: 11317363) Shah Z.H. … Jacobs H.T. (Hum. Mutat. 2001) 3 23
  5. KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation. (PMID: 25582440) Hong J.H. … Raught B. (Mol. Cell Proteomics 2015) 3

Products for SARS2 Gene

Sources for SARS2 Gene

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