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RARS2 Gene

protein-coding   GIFtS: 59
GCID: GC06M088225

Arginyl-TRNA Synthetase 2, Mitochondrial

(Previous name: arginyl-tRNA synthetase-like)
(Previous symbol: RARSL)
  See RARS2-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
Arginyl-TRNA Synthetase 2, Mitochondrial1 2     DALRD22
RARSL1 2 3 5     PRO19922
ArgRS2 3     Arginine--TRNA Ligase2
EC 6.1.1.193 8     Arginine-TRNA Ligase2
PCH62 5     dJ382I10.62
Arginine TRNA Ligase 21     Probable Arginine--TRNA Ligase, Mitochondrial2
Arginyl-TRNA Synthetase-Like1     Probable Arginyl-TRNA Synthetase, Mitochondrial2
Mitochondrial (Putative)1     Arginyl-TRNA Synthetase3

External Ids:    HGNC: 214061   Entrez Gene: 570382   Ensembl: ENSG000001462827   OMIM: 6115245   UniProtKB: Q5T1603   

Export aliases for RARS2 gene to outside databases

Previous GC identifers: GC06M088281 GC06M085440


(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 RARS2 Gene:
The protein encoded by this gene is an arginyl-tRNA synthetase that is found in the mitochondrial matrix. Defects
in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). (provided by RefSeq, Oct 2008)

GeneCards Summary for RARS2 Gene:
RARS2 (arginyl-tRNA synthetase 2, mitochondrial) is a protein-coding gene. Diseases associated with RARS2 include pontocerebellar hypoplasia type 6, and pontocerebellar hypoplasia, type 1b. GO annotations related to this gene include arginine-tRNA ligase activity. An important paralog of this gene is RARS.




(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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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RARS2 gene promoter:
         HOXA9B   HOXA9   TBP   Meis-1b   MEF-2A   POU2F1a   TFIID   aMEF-2   En-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRARS2 promoter sequence
   Search Chromatin IP Primers for RARS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RARS2


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

Entrez Gene cytogenetic band: 6q16.1   Ensembl cytogenetic band:  6q15   HGNC cytogenetic band: 6q16.1

RARS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RARS2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M088225:  view genomic region     (about GC identifiers)

Start:
88,224,096 bp from pter      End:
88,299,735 bp from pter
Size:
75,640 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SYRM_HUMAN, Q5T160 (See protein sequence)
Recommended Name: Probable arginine--tRNA ligase, mitochondrial precursor  
Size: 578 amino acids; 65505 Da
Secondary accessions: B2RDT7 Q96FU5 Q9H8K8

Explore the universe of human proteins at neXtProt for RARS2: NX_Q5T160

Explore proteomics data for RARS2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys115, Lys446
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RARS2 (Q5T160) (see all 15)
     TRDLAAA  RMLQNMA  HVGHLRST  RSDGTSLY 


    See RARS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064716.2  
    ENSEMBL proteins: 
     ENSP00000358549   ENSP00000389656  
    Reactome Protein details: Q5T160

    RARS2 Human Recombinant Protein Products:

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    Novus Biologicals RARS2 Protein
    Novus Biologicals RARS2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RARS2

     
    Search eBioscience for Proteins for RARS2 

     
    antibodies-online proteins for RARS2 (2 products) 

     
    antibodies-online peptides for RARS2

    RARS2 Antibody Products:

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    antibodies-online antibodies for RARS2 (3 products) 

    RARS2 Assay Products:

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    Cloud-Clone Corp. ELISAs for RARS2
    Cloud-Clone Corp. CLIAs for RARS2
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    antibodies-online kits for RARS2 (3 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    aaRS1: Aminoacyl tRNA synthetases / Class I

    Selected InterPro protein domains (see all 7):
     IPR015945 Arg-tRNA-synth_Ia_core
     IPR005148 Arg-tRNA-synth_N
     IPR001412 aa-tRNA-synth_I_CS
     IPR008909 DALR_anticod-bd
     IPR001278 Arg-tRNA-ligase_Ia

    Graphical View of Domain Structure for InterPro Entry Q5T160

    ProtoNet protein and cluster: Q5T160

    UniProtKB/Swiss-Prot: SYRM_HUMAN, Q5T160
    Similarity: Belongs to the class-I aminoacyl-tRNA synthetase family


    Find genes that share domains with RARS2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: SYRM_HUMAN, Q5T160
    Catalytic activity: ATP + L-arginine + tRNA(Arg) = AMP + diphosphate + L-arginyl-tRNA(Arg)

         Enzyme Number (IUBMB): EC 6.1.1.191 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:0004814arginine-tRNA ligase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with RARS2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RARS2:
     Decreased viability with pacli 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Rars2):
     mortality/aging 

    Find genes that share phenotypes with RARS2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RARS2

    miRNA
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    miRTarBase miRNAs that target RARS2:
    hsa-mir-26b-5p (MIRT030355), hsa-mir-30a-5p (MIRT028668), hsa-mir-101-3p (MIRT027320)

    Block miRNA regulation of human, mouse, rat RARS2 using miScript Target Protectors
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    Predesigned siRNA for gene silencing in human, mouse, rat RARS2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: RARS2 (NM_020320)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RARS2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RARS2


    (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
    SYRM_HUMAN, Q5T160: Mitochondrion matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytosol2

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

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

    Find genes that share ontologies with RARS2           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 RARS2 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


    Find genes that share SuperPaths with RARS2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for RARS2
        Mitochondrial tRNA aminoacylation


    1 Kegg Pathway  (Kegg details for RARS2):
        Aminoacyl-tRNA biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RARS2
    Interactions:

        Search GeneGlobe Interaction Network for RARS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for RARS2 (Q5T1602, 3 ENSP000003585494) via UniProtKB, MINT, STRING, and/or I2D (see all 295)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRMT10CQ7L0Y32, 3, ENSP000003123564MINT-8079030 I2D: score=1 STRING: ENSP00000312356
    CLPXO760312, 3MINT-8079030 I2D: score=1 
    KARSQ150462, 3MINT-8079030 I2D: score=1 
    OATP041812, 3MINT-8079030 I2D: score=1 
    PHLDA3Q9Y5J53, ENSP000003562784I2D: score=2 STRING: ENSP00000356278
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006420arginyl-tRNA aminoacylation IEA--
    GO:0010467gene expression TAS--

    Find genes that share ontologies with RARS2           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 RARS2 (SYRM)

    5 HMDB Compounds for RARS2    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-Arginine(S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate (see all 14)74-79-3--
    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 RARS2 gene: 
    NM_020320.3  

    Unigene Cluster for RARS2:

    Arginyl-tRNA synthetase 2, mitochondrial
    Hs.485910  [show with all ESTs]
    Unigene Representative Sequence: AK093934
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369536(uc003pmc.3 uc003pme.3 uc003pmf.3) ENST00000493269
    ENST00000497828 ENST00000451155
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RARS2
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    GenScript: all cDNA clones in your preferred vector: RARS2 (NM_020320)
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    Primer
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    OriGene qPCR primer pairs and template standards for RARS2
    OriGene qSTAR qPCR primer pairs in human, mouse for RARS2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RARS2
      QuantiTect SYBR Green Assays in human, mouse, rat RARS2
      QuantiFast Probe-based Assays in human, mouse, rat RARS2

    Additional mRNA sequence: 

    AF143874.1 AK023550.1 AK093934.1 AK315669.1 BC010420.1 BC022341.1 BC105784.1 

    20 DOTS entries:

    DT.455491  DT.95329979  DT.100825858  DT.121392382  DT.91996260  DT.95364039  DT.100028827  DT.95329995 
    DT.454126  DT.91769331  DT.97763016  DT.95329980  DT.91769327  DT.95258725  DT.121392419  DT.121392449 
    DT.97844764  DT.121392422  DT.40237685  DT.99994401 

    Selected AceView cDNA sequences (see all 227):

    BE276280 AA773032 BI771027 CA415020 BU186049 CB998328 BM833081 CA425644 
    F03069 AI741788 F09944 BF971368 BQ069385 AI872382 BU629235 BE266765 
    BQ637830 AW004932 AA505476 BC010420 F08220 CA419354 BM922250 AA954525 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RARS2 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a ·
    SP1:                                                        -                 -                                                                             -   
    SP2:                                -     -     -           -                 -           -     -                                                           -   
    SP3:                                -     -     -           -                 -                                                                                 
    SP4:                                -     -     -           -                 -                                                                                 
    SP5:                                -     -     -     -     -                 -           -     -     -                                                         

    ExUns: 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for RARS2

    (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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    RARS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTCAATTA
    RARS2 Expression
    About this image

    RARS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RARS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.485910
        Custom PCR Arrays for RARS2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RARS2

    (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 animals and fungi.

    Orthologs for RARS2 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rars21 , 5 arginyl-tRNA synthetase 2, mitochondrial1, 5 86.1(n)1
    86.51(a)1
      4 (16.84 cM)5
    1090931  NM_181406.31  NP_852071.21 
     346149575 
    chicken
    (Gallus gallus)
    Aves RARS21 arginyl-tRNA synthetase 2, mitochondrial 72.97(n)
    73.96(a)
      421823  NM_001278019.1  NP_001264948.1 
    lizard
    (Anolis carolinensis)
    Reptilia RARS26
    arginyl-tRNA synthetase 2, mitochondrial
    70(a)
    1 ↔ 1
    1(176326227-176357166)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU900430.12   -- 72.64(n)    BU900430.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc637022 hypothetical protein MGC63702 72.07(n)   393589  BC056803.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG100921 CG10092 48.9(n)
    41.19(a)
      40929  NM_001275422.1  NP_001262351.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rars-26
    Protein RARS-2 (rars-2) mRNA, complete cds
    28(a)
    1 ↔ 1
    II(6125559-6127946) WBGene00004680
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YDR341C)4
    YDR341C1
    Arginyl-tRNA synthetase, proposed to be cytoplasmic more4
    YDR341C1
    49.84(n)1
    43.59(a)1
      4(1153626-1151803)4
    8519421, 4  NP_010628.31  NP_010628.14 


    ENSEMBL Gene Tree for RARS2 (if available)
    TreeFam Gene Tree for RARS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RARS2 gene
    RARS2  
    15 SIMAP similar genes for RARS2 using alignment to 2 protein entries:     SYRM_HUMAN (see all proteins):
    RARSL    ZNF74    AURA2    UTY    CTSS    LINC00596
    ZNF564    SHANK2    NF2    DNAPTP3    FAM175A    FAM3A
    MED15    RNF216    GLT8D2

    Find genes that share paralogs with RARS2           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)
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    Selected SNPs for RARS2 (see all 2000)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs624176991,2
    C,F--85517112(+) TCATCG/ATGAAA 1 -- us2k15Minor allele frequency- A:0.09NA CSA WA 244
    rs1816187571,2
    --85517192(+) TGTTAC/TTACCA 1 -- us2k10--------
    rs1843914001,2
    --85517222(+) TTTCTA/GATCAC 1 -- us2k10--------
    rs1391346691,2
    C--88202559(+) ATAAAG/TACTGA 1 -- ds50010--------
    rs175042091,2
    C,F,H--88202590(+) TAATAC/TAGATT 1 -- ds500114Minor allele frequency- T:0.06NA NS EA CSA WA 926
    rs1440314531,2
    C--88202693(+) GAGGTC/TGGGAG 1 -- ds50010--------
    rs356790381,2
    C,F--88202702(+) AGTGCG/AAGACC 1 -- ds50013Minor allele frequency- A:0.50NA CSA 6
    rs357063991,2
    C--88202764(+) CTGGCA/GTGATG 1 -- ds50010--------
    rs1421778711,2
    C--88202816(+) GAGAAC/TTGCTT 1 -- ds50010--------
    rs1882083291,2
    --88202864(+) CACCAC/TTGCAC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for RARS2 (88224096 - 88299735 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for RARS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658829CNV Deletion23128226
    esv2283561CNV Deletion18987734
    esv2569279CNV Deletion19546169
    esv2732391CNV Deletion23290073
    esv6087CNV Loss19470904
    nsv511905CNV Loss21212237

    Human Gene Mutation Database (HGMD): RARS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RARS2
    DNA2.0 Custom Variant and Variant Library Synthesis for RARS2

    (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: 611524   
    OMIM disorders: 611523  
    UniProtKB/Swiss-Prot: SYRM_HUMAN, Q5T160
  • Pontocerebellar hypoplasia 6 (PCH6) [MIM:611523]: A disorder characterized by an abnormally small
    cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent
    apnea, intractable seizures occur early in the course of this condition. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 4 diseases for RARS2:    
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    pontocerebellar hypoplasia type 6    pontocerebellar hypoplasia, type 1b    pontocerebellar hypoplasia    woolly hair, autosomal dominant

    2 diseases from the University of Copenhagen DISEASES database for RARS2:
    Microcephaly     Mitochondrial encephalomyopathy

    Find genes that share disorders with RARS2           About GenesLikeMe

    Genetic Association Database (GAD): RARS2
    Human Genome Epidemiology (HuGE) Navigator: RARS2 (1 document)

    Export disorders for RARS2 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 RARS2 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with RARS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. (PubMed id 17847012)1, 2, 3 Edvardson S.... Elpeleg O. (Am. J. Hum. Genet. 2007)
    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. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. (PubMed id 15779907)1, 2 Bonnefond L....Sissler M. (Biochemistry 2005)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    7. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. (PubMed id 22569581)1 Cassandrini D....Bertini E. (J. Inherit. Metab. Dis. 2013)
    8. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    9. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    10. Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. (PubMed id 22086604)1 Glamuzina E....Grunewald S. (J. Inherit. Metab. Dis. 2012)

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

      Query String
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    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: 57038 HGNC: 21406 AceView: RARSL Ensembl:ENSG00000146282 euGenes: HUgn57038
    ECgene: RARS2 Kegg: 57038 H-InvDB: RARS2

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for RARS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RARS2 gene:
    Search GeneIP for patents involving RARS2

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



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