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 f... See more...

Aliases for SARS2 Gene

Aliases for SARS2 Gene

  • Seryl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • SerRSmt 2 3 4
  • Serine TRNA Ligase 2, Mitochondrial 2 3
  • Serine--TRNA Ligase, Mitochondrial 3 4
  • Seryl-TRNA(Ser/Sec) Synthetase 3 4
  • EC 6.1.1.11 4 50
  • MtSerRS 2 3
  • SARSM 3 4
  • SerRS 3 4
  • SARS 2 3
  • SERS 2 3
  • SYS 2 3
  • Seryl-TRNA Synthetase, Mitochondrial 3
  • Mitochondrial Seryl-TRNA Synthetase 3
  • Serine-TRNA Ligase, Mitochondrial 2
  • Seryl-TRNA Synthetase 2 2
  • Seryl-TRNA Synthetase 4
  • FLJ20450 2
  • SARS2 5

External Ids for SARS2 Gene

Previous HGNC Symbols for SARS2 Gene

  • SARSM

Previous GeneCards Identifiers for SARS2 Gene

  • GC19M040018
  • GC19M039797
  • GC19M044081
  • GC19M044097
  • GC19M039405
  • GC19M038916
  • GC19M039033
  • GC19M039161
  • GC19M039715
  • GC19M041439
  • GC19M039079
  • GC19M039031
  • GC19M042443
  • GC19M043525

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 tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include aminoacyl-tRNA ligase activity. An important paralog of this gene is ENSG00000269547.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SARS2 Gene

Genomics for SARS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH19J038924 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 283.1 +2.7 2662 8.2 SP1 ZNF207 ZNF654 ZNF600 MYC IKZF1 SIX5 ZNF580 ZNF592 ZMYM3 SARS2 MRPS12 lnc-CCER2-4 SUPT5H FBXO17 FBL HNRNPL ERVK9-11 PAK4 EID2B
GH19J038915 Promoter 0.6 EPDnew 250.4 +14.9 14922 0.1 HNRNPL EGR2 GLIS2 ZFHX2 HIC1 CCER2 lnc-SARS2-2 SARS2 ENSG00000269547
GH19J038898 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 17.5 +31.0 30979 4 BCLAF1 SP1 ZNF207 MYC IKZF1 ZNF600 SIX5 ZNF580 ATF2 KLF9 lnc-CCER2-1 SIRT2 NFKBIB piR-39446 HNRNPL FBL SUPT5H ENSG00000269688 PLEKHG2 RN7SL566P
GH19J038919 Enhancer 1.2 FANTOM5 Ensembl ENCODE 31 +10.6 10622 1.5 IKZF1 ZSCAN16 ZBTB10 ZNF148 ZNF521 NBN NONO TRIM25 TARDBP ZNF571 SUPT5H HNRNPL FBL SARS2 PAF1 ERVK9-11 RPS16 SAMD4B PLEKHG2 RN7SL566P
GH19J038961 Enhancer 1.2 Ensembl ENCODE dbSUPER 20.4 -31.5 -31507 1.1 ZNF654 MYC IKZF1 ZNF600 ZNF580 ZIC2 REST TRIM22 BHLHE40 ZNF639 SARS2 HNRNPL PLEKHG2 FBXO17 ENSG00000269547 piR-35674-263
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SARS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SARS2

Top Transcription factor binding sites by QIAGEN in the SARS2 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • ATF-2
  • CRE-BP1
  • p300
  • POU2F1
  • POU2F1a
  • SEF-1 (1)

Genomic Locations for SARS2 Gene

Latest Assembly
chr19:38,915,266-38,930,763
(GRCh38/hg38)
Size:
15,498 bases
Orientation:
Minus strand

Previous Assembly
chr19:39,405,906-39,421,403
(GRCh37/hg19 by Entrez Gene)
Size:
15,498 bases
Orientation:
Minus strand

chr19:39,405,906-39,440,495
(GRCh37/hg19 by Ensembl)
Size:
34,590 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr19(PATCHES):324,938-340,435 (-)

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=Truncated N-terminus.; 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 Lys195
  • 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

Protein Domains for SARS2 Gene

Suggested Antigen Peptide Sequences for SARS2 Gene

GenScript: Design optimal peptide antigens:
  • Seryl-tRNA(Ser/Sec) synthetase (SYSM_HUMAN)

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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-serine + tRNA(Ser) = AMP + diphosphate + H(+) + L-seryl-tRNA(Ser); Xref=Rhea:RHEA:12292, Rhea:RHEA-COMP:9669, Rhea:RHEA-COMP:9703, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:33384, ChEBI:CHEBI:78442, ChEBI:CHEBI:78533, ChEBI:CHEBI:456215; EC=6.1.1.11; Evidence={ECO:0000250|UniProtKB:Q9N0F3};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-serine + tRNA(Sec) = AMP + diphosphate + H(+) + L-seryl-tRNA(Sec); Xref=Rhea:RHEA:42580, Rhea:RHEA-COMP:9742, Rhea:RHEA-COMP:10128, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:33384, ChEBI:CHEBI:78442, ChEBI:CHEBI:78533, ChEBI:CHEBI:456215; EC=6.1.1.11; Evidence={ECO:0000250|UniProtKB:Q9N0F3};.

Enzyme Numbers (IUBMB) for SARS2 Gene

Gene Ontology (GO) - Molecular Function for SARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IBA 21873635
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22681889
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004828 serine-tRNA ligase activity IEA,ISS 10764807
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SARS2

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
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SARS2 Gene

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

Pathways & Interactions for SARS2 Gene

PathCards logo

SuperPathways for SARS2 Gene

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

Pathways by source 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:0070158 mitochondrial seryl-tRNA aminoacylation IBA 21873635
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
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0
Serine Investigational Nutra Weak endogenous glycine receptor agonist 1286

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with SARS2: view

Transcripts for SARS2 Gene

mRNA/cDNA for SARS2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SARS2

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

Expression for SARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SARS2 Gene



Protein tissue co-expression partners for SARS2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.2)
  • Skin(2.3)
  • Blood(2)

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

Primer products for research

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 29
  • 88.42 (n)
-- 30
  • 82 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia SARS2 29 30
  • 88.16 (n)
OneToMany
Chimpanzee
(Pan troglodytes)
Mammalia LOC748729 29
  • 87.68 (n)
Rat
(Rattus norvegicus)
Mammalia Sars2 29
  • 86.07 (n)
Mouse
(Mus musculus)
Mammalia Sars2 29 16 30
  • 85.62 (n)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 61 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 58 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sars2 29
  • 60.49 (n)
Zebrafish
(Danio rerio)
Actinopterygii sars2 29 30
  • 61.54 (n)
OneToMany
-- 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000991 29
  • 55.9 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Aats-ser 29
  • 51.76 (n)
Worm
(Caenorhabditis elegans)
Secernentea sars-2 29
  • 50.99 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR412C 29
  • 50.62 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03433g 29
  • 44.17 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIA4 29 32
  • 43.34 (n)
SES1 30
  • 22 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SRS 29
  • 47.45 (n)
Rice
(Oryza sativa)
Liliopsida Os11g0610900 29
  • 49.96 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU09594 29
  • 50 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC25B8.06c 29
  • 44.5 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 38 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14044 29
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)
Aminode:
Evolutionary constrained regions (ECRs) for SARS2: view image
Alliance of Genome Resources:
Additional Orthologs for SARS2

Paralogs for SARS2 Gene

Paralogs for SARS2 Gene

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

  • SYSM_HUMAN
  • B4DJM9_HUMAN
  • E7EX87_HUMAN
  • M0QWZ7_HUMAN
  • M0QX29_HUMAN
  • M0R1C0_HUMAN
  • M0R259_HUMAN
  • M0R2H5_HUMAN
genes like me logo Genes that share paralogs with SARS2: view

Variants for SARS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SARS2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1029489 Pathogenic: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,917,941(-) G/A
NM_017827.4(SARS2):c.1030C>T (p.Arg344Ter)
NONSENSE
1033450 Pathogenic: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,921,589(-) G/A
NM_017827.4(SARS2):c.472C>T (p.Gln158Ter)
NONSENSE
1033451 Pathogenic: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,921,400(-) T/TCTCC
NM_017827.4(SARS2):c.577_580dup (p.Asp194fs)
FRAMESHIFT
1033452 Uncertain Significance: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,918,518(-) T/A
NM_017827.4(SARS2):c.820A>T (p.Met274Leu)
MISSENSE
893011 Uncertain Significance: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,915,356(-) T/C
NM_017827.4(SARS2):c.*250A>G
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SARS2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
SARS2

SNP Genotyping and Copy Number Assays for research

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

Disorders for SARS2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SARS2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for SARS2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. (PMID: 21255763) Belostotsky R … Frishberg Y (American journal of human genetics 2011) 4 72
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  4. 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
  5. Modulation of Mrps12/Sarsm promoter activity in response to mitochondrial stress. (PMID: 18755224) Zanotto E … Jacobs HT (Biochimica et biophysica acta 2008) 3 22

Products for SARS2 Gene

Sources for SARS2 Gene