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SARS2 Gene

protein-coding   GIFtS: 58
GCID: GC19M039405

Seryl-TRNA Synthetase 2, Mitochondrial

(Previous names: serine-tRNA ligase, mitochondrial, seryl-tRNA synthetase...)
(Previous symbol: SARSM)
  See SARS2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Seryl-TRNA Synthetase 2, Mitochondrial1 2     SARS2
SARSM1 2 3     SERS2
Serine-TRNA Ligase, Mitochondrial1 2     SYS2
Seryl-TRNA(Ser/Sec) Synthetase2 3     Mitochondrial Seryl-TRNA Synthetase2
SerRS2 3     mtSerRS2
SerRSmt2 3     Serine TRNA Ligase 2, Mitochondrial2
EC 6.1.1.113 8     Serine--TRNA Ligase, Mitochondrial2
mitochondrial1     Seryl-TRNA Synthetase, Mitochondrial2
Serine TRNA Ligase 21     Seryl-TRNA Synthetase3
Seryl-TRNA Synthetase 21     

External Ids:    HGNC: 176971   Entrez Gene: 549382   Ensembl: ENSG000001048357   OMIM: 6128045   UniProtKB: Q9NP813   

Export aliases for SARS2 gene to outside databases

Previous GC identifers: GC19M040018 GC19M039797 GC19M044081 GC19M044097


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include serine-tRNA ligase activity. An important paralog of this gene is SARS.

UniProtKB/Swiss-Prot: SYSM_HUMAN, Q9NP81
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)

Gene Wiki entry for SARS2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the SARS2 gene promoter:
         AhR   AML1a   ATF-2   p300   Arnt   CRE-BP1   POU2F1   POU2F1a   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSARS2 promoter sequence
   Search Chromatin IP Primers for SARS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SARS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

SARS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SARS2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M039405:  view genomic region     (about GC identifiers)

Start:
39,405,904 bp from pter      End:
39,440,495 bp from pter
Size:
34,592 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SYSM_HUMAN, Q9NP81 (See protein sequence)
Recommended Name: Serine--tRNA ligase, mitochondrial precursor  
Size: 518 amino acids; 58283 Da
Subunit: Homodimer. The tRNA molecule binds across the dimer (By similarity)
Sequence caution: Sequence=AAH01020.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A6NHW7 B4DE10 Q9BVP3
Alternative splicing: 2 isoforms:  Q9NP81-1   Q9NP81-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SARS2: NX_Q9NP81

Explore proteomics data for SARS2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys195
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for SARS2 (Q9NP81)
     EAWMPGR  SASNCTD 


    See SARS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001139373.1  NP_060297.1  

    ENSEMBL proteins: 
     ENSP00000221431   ENSP00000472339   ENSP00000406754   ENSP00000468865   ENSP00000472847  
     ENSP00000414954   ENSP00000472576   ENSP00000471767   ENSP00000399330  
    Reactome Protein details: Q9NP81

    SARS2 Human Recombinant Protein Products:

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    Novus Biologicals SARS2 Protein
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    Cloud-Clone Corp. Proteins for SARS2

     
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    Search eBioscience for ELISAs for SARS2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    aaRS2: Aminoacyl tRNA synthetases / Class II

    5 InterPro protein domains:
     IPR010978 tRNA-bd_arm
     IPR002314 aa-tRNA-synt_IIb_cons-dom
     IPR006195 aa-tRNA-synth_II
     IPR015866 Ser-tRNA-synth_1_N
     IPR002317 Ser-tRNA-ligase_type_1

    Graphical View of Domain Structure for InterPro Entry Q9NP81

    ProtoNet protein and cluster: Q9NP81

    1 Blocks protein domain: IPB002317 Seryl-tRNA SYNTHETASE signature

    UniProtKB/Swiss-Prot: SYSM_HUMAN, Q9NP81
    Domain: Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA
    binding (By similarity)
    Similarity: Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily


    Find genes that share domains with SARS2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYSM_HUMAN, Q9NP81
    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)
    Catalytic activity: ATP + L-serine + tRNA(Ser) = AMP + diphosphate + L-seryl-tRNA(Ser)
    Catalytic activity: ATP + L-serine + tRNA(Sec) = AMP + diphosphate + L-seryl-tRNA(Sec)

         Enzyme Number (IUBMB): EC 6.1.1.111 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004828serine-tRNA ligase activity TAS--
    GO:0005524ATP binding ISS10764807
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with SARS2           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SARS2
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    miRTarBase miRNAs that target SARS2:
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    Block miRNA regulation of human, mouse, rat SARS2 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidSARS2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): SARS2 (NM_017827)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SARS2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SYSM_HUMAN, Q9NP81: Mitochondrion matrix (By similarity)

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion ISS10764807
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with SARS2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SARS2 About    
    See pathways by source

    SuperPathContained pathways About
    1tRNA Aminoacylation
    tRNA Aminoacylation0.57
    Mitochondrial tRNA aminoacylation0.50
    Aminoacyl-tRNA biosynthesis0.52
    2Gene Expression
    Gene Expression0.40
    3Selenium Metabolism and Selenoproteins
    Selenium Metabolism and Selenoproteins


    Find genes that share SuperPaths with SARS2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SARS2
        Selenium Metabolism and Selenoproteins

    1 Reactome Pathway for SARS2
        Mitochondrial tRNA aminoacylation


    1 Kegg Pathway  (Kegg details for SARS2):
        Aminoacyl-tRNA biosynthesis

    UniProtKB/Swiss-Prot: SYSM_HUMAN, Q9NP81
    Pathway: Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; L-seryl-tRNA(Sec) from L-serine and
    tRNA(Sec): step 1/1

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SARS2
    Interactions:

        Search GeneGlobe Interaction Network for SARS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SARS2 (Q9NP812, 3 ENSP000002214314) via UniProtKB, MINT, STRING, and/or I2D (see all 394)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRMT10CQ7L0Y32, 3, ENSP000003123564MINT-8079030 I2D: score=1 STRING: ENSP00000312356
    ETFAP138042, 3MINT-8079030 I2D: score=5 
    ADCK3Q8NI602, 3MINT-8079030 I2D: score=1 
    OATP041812, 3MINT-8079030 I2D: score=1 
    PSMD2Q132002, 3MINT-8415512 I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006434seryl-tRNA aminoacylation ISS10764807
    GO:0010467gene expression TAS--
    GO:0030163protein catabolic process ----
    GO:0097056selenocysteinyl-tRNA(Sec) biosynthetic process IEA--

    Find genes that share ontologies with SARS2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SARS2 (SYSM)

    5 HMDB Compounds for SARS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    L-Serine(-)-Serine (see all 26)56-45-1--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SARS2 gene (2 alternative transcripts): 
    NM_001145901.1  NM_017827.3  

    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000594259 ENST00000221431(uc002ojz.2 uc002oka.2 uc010xur.1)
    ENST00000594171 ENST00000430193(uc010xup.1 uc010xus.1) ENST00000598831
    ENST00000600042 ENST00000597490 ENST00000455102 ENST00000598563 ENST00000602034
    ENST00000600448 ENST00000598343 ENST00000598598 ENST00000593754 ENST00000448145(uc010xuq.1)

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SARS2
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      QuantiFast Probe-based Assays in human, mouse, rat SARS2

    Selected AceView cDNA sequences (see all 175):

    BI257391 BU196969 AA336553 AL521384 BG250432 BF002302 BQ054152 AI590551 
    BM912108 BC042912 BM563168 AI392724 BQ690710 AL523540 CA488180 BU196970 
    CR611000 AB029948 BQ070460 CR618695 BM921697 AL559404 BE905396 AK098522 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SARS2 (see all 6)    About this scheme

    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:                                                                                                                                                            


    ECgene alternative splicing isoforms for SARS2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SARS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SARS2 Expression
    About this image


    SARS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
             Metanephros
     
     Eye (Sensory Organs)
             Lens
    SARS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SARS2 Protein Expression
        Custom PCR Arrays for SARS2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SARS2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SARS2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SARS2 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sars21 , 5 seryl-aminoacyl-tRNA synthetase 21, 5 85.62(n)1
    86.27(a)1
      7 (16.91 cM)5
    719841  NM_023637.31  NP_076126.21 
     287419685 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    61(a)
    1 → many
    JH375654.1(59887-62220)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    58(a)
    1 → many
    GL343885.1(86168-115057)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BQ390056.12   -- 74.23(n)    BQ390056.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC055610.12   -- 76.1(n)   394154  BC055610.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Aats-ser1 Seryl-tRNA synthetase 51.76(n)
    42.55(a)
      41862  NM_079641.3  NP_524365.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sars-21 sars-2 50.99(n)
    43.38(a)
      177200  NM_068148.6  NP_500549.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DIA4(YHR011W)4
    DIA41
    Probable mitochondrial seryl-tRNA synthetase, mutant more4
    DIA41
    43.34(n)1
    33.49(a)1
      8(127780-129120)4
    8564021, 4  NP_011875.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SRS1 SRS 47.45(n)
    41.1(a)
      837734  NM_179316.2  NP_849647.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g06109001 Os11g0610900 49.96(n)
    43.83(a)
      4350906  NM_001074797.1  NP_001068265.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SARS2 gene
    SARS2  ENSG000002695472  
    1 SIMAP similar gene for SARS2 using alignment to 8 protein entries:     SYSM_HUMAN (see all proteins):
    FBXO17

    Find genes that share paralogs with SARS2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for SARS2 (see all 459)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0658204
    Hyperuricemia pulmonary hypertension renal failure and alkalosis (HUPRA)4--see VAR_0658202 D G mis40--------
    rs1485664181,2
    --35852112(+) AAGGCA/GGTGTT 2 -- ds50010--------
    rs743809001,2
    C--35852134(+) TAATGG/AAGTGG 2 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1858586741,2
    C--35852145(+) AGTGGA/GTATGA 2 -- ds50010--------
    rs792577801,2
    C,F--35852179(+) AGGGCT/AGTGGC 2 -- ds50012Minor allele frequency- A:0.12NA EA 240
    rs129852771,2
    C,F,H--35852266(+) GGTAGC/TTTCCC 2 -- ds500118Minor allele frequency- T:0.19NS EA NA WA 2334
    rs1429065981,2
    --35852367(+) GGGGTC/GAGCTC 2 -- ds50010--------
    rs1910185461,2
    --35852562(+) GCTCAA/GCAGCT 2 -- ds50010--------
    rs1825838351,2
    --35852646(+) TTGCTA/CAGCAC 2 -- ut310--------
    rs743990891,2
    F--35852854(+) AACACA/CGATGT 2 -- ut312Minor allele frequency- C:0.07CSA WA 120

    HapMap Linkage Disequilibrium report for SARS2 (39405904 - 39440495 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SARS2: --
    Human Gene Mutation Database (HGMD): SARS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SARS2
    DNA2.0 Custom Variant and Variant Library Synthesis for SARS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612804   
    OMIM disorders: 613845  
    UniProtKB/Swiss-Prot: SYSM_HUMAN, Q9NP81
  • Hyperuricemia pulmonary hypertension renal failure and alkalosis (HUPRA) [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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 2 diseases for SARS2:    
    About MalaCards
    hyperuricemia, pulmonary hypertension, renal failure, and alkalosis    hyperuricemia


    Find genes that share disorders with SARS2           About GenesLikeMe

    Genetic Association Database (GAD): SARS2
    Human Genome Epidemiology (HuGE) Navigator: SARS2 (1 document)

    Export disorders for SARS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SARS2 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with SARS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and tRNA recognition of mammalian mitochondrial seryl-tRNA synthetase. (PubMed id 10764807)1, 2, 3, 9 Yokogawa T.... Watanabe K. (J. Biol. Chem. 2000)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families. (PubMed id 11317363)1, 9 Shah Z.H....Jacobs H.T. (Hum. Mutat. 2001)
    6. NF-Y influences directionality of transcription from the bidirectional Mrps12/Sarsm promoter in both mouse and human cells. (PubMed id 19439209)1, 9 Zanotto E....Jacobs H.T. (Biochim. Biophys. Acta 2009)
    7. Modulation of Mrps12/Sarsm promoter activity in response to mitochondrial stress. (PubMed id 18755224)1, 9 Zanotto E....Jacobs H.T. (Biochim. Biophys. Acta 2008)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. A cohesin-RAD21 interactome. (PubMed id 22145905)1 Panigrahi A.K....Pati D. (Biochem. J. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54938 HGNC: 17697 AceView: SARS2 Ensembl:ENSG00000104835 euGenes: HUgn54938
    ECgene: SARS2 Kegg: 54938 H-InvDB: SARS2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SARS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SARS2 gene:
    Search GeneIP for patents involving SARS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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