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RRAGD Gene

protein-coding   GIFtS: 55
GCID: GC06M090074

Ras-Related GTP Binding D

  See related disease
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
Ras-Related GTP Binding D1 2     Ras-Related GTP-Binding Protein D2
RAGD2 5     RagD3
bA11D8.2.12     Rag D3
Rag D Protein2     

External Ids:    HGNC: 199031   Entrez Gene: 585282   Ensembl: ENSG000000250397   OMIM: 6082685   UniProtKB: Q9NQL23   

Export aliases for RRAGD gene to outside databases

Previous GC identifers: GC06M090024 GC06M090070 GC06M090073 GC06M090131 GC06M087291


(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 RRAGD Gene:
RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act
as molecular switches in numerous cell processes and signaling pathways.(supplied by OMIM, Apr 2004)

GeneCards Summary for RRAGD Gene:
RRAGD (Ras-related GTP binding D) is a protein-coding gene. Diseases associated with RRAGD include omenn syndrome. GO annotations related to this gene include GTP binding and protein heterodimerization activity. An important paralog of this gene is RRAGC.

UniProtKB/Swiss-Prot: RRAGD_HUMAN, Q9NQL2
Function: Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino
acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is
a crucial step in the activation of the TOR signaling cascade by amino acids




(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:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RRAGD gene promoter:
         COUP-TF1   AP-1   ATF-2   COUP   HNF-4alpha2   HNF-4alpha1   PPAR-gamma1   COUP-TF   c-Jun   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRRAGD promoter sequence
   Search Chromatin IP Primers for RRAGD

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


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

Entrez Gene cytogenetic band: 6q15-q16   Ensembl cytogenetic band:  6q15   HGNC cytogenetic band: 6q15-q16

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M090074:  view genomic region     (about GC identifiers)

Start:
90,074,335 bp from pter      End:
90,121,995 bp from pter
Size:
47,661 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RRAGD_HUMAN, Q9NQL2 (See protein sequence)
Recommended Name: Ras-related GTP-binding protein D  
Size: 400 amino acids; 45588 Da
Subunit: Forms a heterodimer with RRAGA in a sequence-independent manner and RRAGB. Heterodimerization stabilizes
RRAG proteins. In complex with RRAGB, interacts with RPTOR; this interaction is particularly efficient with
GTP-loaded RRAGB and GDP-loaded RRAGC. Interacts with NOL8. Interacts with SH3BP4; the interaction with this
negative regulator is most probably direct, preferentially occurs with the inactive GDP-bound form of RRAGD and
is negatively regulated by amino acids
Sequence caution: Sequence=AAH03088.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for RRAGD:
2Q3F (3D)    
Secondary accessions: A8K184 Q7L8F9 Q9NPG0
Alternative splicing: 2 isoforms:  Q9NQL2-1   Q9NQL2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RRAGD: NX_Q9NQL2

Explore proteomics data for RRAGD at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RRAGD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_067067.1  
    ENSEMBL proteins: 
     ENSP00000358423   ENSP00000352131  

    RRAGD Human Recombinant Protein Products:

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    Novus Biologicals RRAGD Proteins
    Novus Biologicals RRAGD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for RRAGD

    RRAGD Antibody Products:

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    LSBio Antibodies in human, mouse, rat for RRAGD

    RRAGD Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RRAGD
    Cloud-Clone Corp. CLIAs for RRAGD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR006762 Gtr1_RagA

    Graphical View of Domain Structure for InterPro Entry Q9NQL2

    ProtoNet protein and cluster: Q9NQL2

    UniProtKB/Swiss-Prot: RRAGD_HUMAN, Q9NQL2
    Similarity: Belongs to the GTR/RAG GTP-binding protein family


    RRAGD for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RRAGD_HUMAN, Q9NQL2
    Function: Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino
    acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is
    a crucial step in the activation of the TOR signaling cascade by amino acids

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11073942
    GO:0005525GTP binding IEA--
    GO:0046982protein heterodimerization activity IPI11073942
         
    RRAGD for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RRAGD
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RRAGD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RRAGD
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RRAGD

    miRNA
    Products:
        
    miRTarBase miRNAs that target RRAGD:
    hsa-mir-30b-5p (MIRT023426), hsa-mir-23b-3p (MIRT046270), hsa-mir-484 (MIRT042062)

    Block miRNA regulation of human, mouse, rat RRAGD using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RRAGD (see all 109):
    hsa-miR-548j hsa-miR-579 hsa-miR-3678-3p hsa-miR-4254 hsa-miR-520e hsa-miR-520f hsa-miR-300 hsa-miR-106a
    SwitchGear 3'UTR luciferase reporter plasmidRRAGD 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RRAGD
    Predesigned siRNA for gene silencing in human, mouse, rat RRAGD

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RRAGD

    Clone
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    OriGene ORF clones in mouse, rat for RRAGD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RRAGD (NM_021244)
    Sino Biological Human cDNA Clone for RRAGD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RRAGD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RRAGD

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for RRAGD
    Browse ESI BIO Cell Lines and PureStem Progenitors for RRAGD 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RRAGD


    (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
    RRAGD_HUMAN, Q9NQL2: Cytoplasm. Nucleus. Lysosome. Note=Predominantly cytoplasmic. May shuttle between the
    cytoplasm and nucleus, depending on the bound nucleotide state of associated RRAGA
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    nucleus5
    vacuole5
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11073942
    GO:0005737cytoplasm IDA11073942
    GO:0005764lysosome IDA--

    RRAGD for ontologies           About GeneDecksing


    (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 RRAGD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Translation Insulin regulation of translation
    mTOR signaling pathway0.34
    2Insulin receptor signalling cascade
    TOR signaling0.32
    3Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for RRAGD
        Translational Control

    1 BioSystems Pathway for RRAGD
        TOR signaling



    1 Kegg Pathway  (Kegg details for RRAGD):
        mTOR signaling pathway


    RRAGD for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including RRAGD: 
              mTOR Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RRAGD

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

    Selected Interacting proteins for RRAGD (Q9NQL21, 3 ENSP000003584234) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RRAGAQ7L5231, 3, ENSP000003698994EBI-992949,EBI-752376 I2D: score=6 STRING: ENSP00000369899
    RRAGBQ5VZM21, 3, ENSP000002628504EBI-992949,EBI-993049 I2D: score=5 STRING: ENSP00000262850
    LAMTOR2Q9Y2Q53, ENSP000003572884I2D: score=1 STRING: ENSP00000357288
    RPTORQ8N1223, ENSP000003072724I2D: score=1 STRING: ENSP00000307272
    LAMTOR1Q6IAA83, ENSP000002786714I2D: score=1 STRING: ENSP00000278671
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032008positive regulation of TOR signaling NAS--
    GO:0034613cellular protein localization ISS--
    GO:0071230cellular response to amino acid stimulus ISS--

    RRAGD for ontologies           About GeneDecksing



    (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 RRAGD

    3 HMDB Compounds for RRAGD    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RRAGD gene: 
    NM_021244.4  

    Unigene Cluster for RRAGD:

    Ras-related GTP binding D
    Hs.31712  [show with all ESTs]
    Unigene Representative Sequence: NM_021244
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369415(uc003pnd.4 uc010kcc.3) ENST00000359203 ENST00000492783

    miRNA
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    Block miRNA regulation of human, mouse, rat RRAGD using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RRAGD (see all 109):
    hsa-miR-548j hsa-miR-579 hsa-miR-3678-3p hsa-miR-4254 hsa-miR-520e hsa-miR-520f hsa-miR-300 hsa-miR-106a
    SwitchGear 3'UTR luciferase reporter plasmidRRAGD 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RRAGD
    Predesigned siRNA for gene silencing in human, mouse, rat RRAGD
    Clone
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    OriGene clones in human, mouse for RRAGD (see all 7)
    OriGene ORF clones in mouse, rat for RRAGD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RRAGD (NM_021244)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RRAGD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RRAGD
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for RRAGD
    OriGene qSTAR qPCR primer pairs in human, mouse for RRAGD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RRAGD
      QuantiTect SYBR Green Assays in human, mouse, rat RRAGD
      QuantiFast Probe-based Assays in human, mouse, rat RRAGD

    Additional mRNA sequence: 

    AF272036.1 AJ420486.1 AK289799.1 BC003088.1 

    11 DOTS entries:

    DT.211523  DT.100785132  DT.100035625  DT.100785129  DT.448599  DT.99990791  DT.95169508  DT.86854507 
    DT.121383930  DT.100785131  DT.121384065 

    Selected AceView cDNA sequences (see all 209):

    BU738490 AI699917 CR602554 AI499627 CR597649 AW024980 CB045659 BM713033 
    CA438243 CB529917 BX099210 AI968846 CF455510 AW589930 BQ636839 AI366343 
    AI263348 BM675902 BM980560 AI393514 CA431731 BM975804 AW339728 CR624974 

    GeneLoc Exon Structure


    (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 Genevestigator, and/or 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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    RRAGD expression in normal human tissues (normalized intensities)      RRAGD embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCACTAAA
    RRAGD Expression
    About this image


    RRAGD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Human embryonic stem cells (family)
     
     Neural Crest (Gastrulation Derivatives)
             PureStem MEL2, NCr-fac Progenitor
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    RRAGD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RRAGD Protein Expression

    Genevestigator expression for RRAGD

    SOURCE GeneReport for Unigene cluster: Hs.31712
        Pathway & Disease-focused RT2 Profiler PCR Array including RRAGD: 
              mTOR Signaling in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for RRAGD
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    QuantiFast Probe-based Assays in human, mouse, rat RRAGD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RRAGD

    (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 RRAGD gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rragd1 , 5 Ras-related GTP binding D1, 5 89.06(n)1
    94.49(a)1
      4 (14.57 cM)5
    521871  NM_027491.21  NP_081767.21 
     329830375 
    chicken
    (Gallus gallus)
    Aves RRAGD6
    Ras-related GTP binding D
    95(a)
    1 ↔ 1
    3(75065599-75080756)
    lizard
    (Anolis carolinensis)
    Reptilia RRAGD6
    Ras-related GTP binding D
    86(a)
    1 ↔ 1
    1(174958998-174986336)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rragd1 Ras-related GTP binding D 78.97(n)
    89.84(a)
      780358  NM_001079428.1  NP_001072896.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rragd1 ras-related GTP binding D 75.5(n)
    86.61(a)
      570568  NM_001099424.1  NP_001092894.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RagC6
    --
    64(a)
    1 → many
    2R(4049184-4051018)
    worm
    (Caenorhabditis elegans)
    Secernentea ragc-16
    Protein RAGC-1 (ragc-1) mRNA, complete cds
    48(a)
    1 → many
    IV(11603612-11604924) WBGene00012497
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GTR26
    Putative GTP binding protein that negatively regul...
    44(a)
    1 → many
    VII(827552-828577) YGR163W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RRAGD gene
    RRAGC2  
    1 SIMAP similar gene for RRAGD using alignment to 1 protein entry:     RRAGD_HUMAN:
    RRAGC

    RRAGD for paralogs           About GeneDecksing



    (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 RRAGD (see all 937)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1470988241,2
    C--90073842(+) GGTTGC/TCTCAT 1 -- ds50010--------
    rs1889316701,2
    --90073856(+) AAAAAC/TAGAAA 1 -- ds50010--------
    rs744977201,2
    C,F--90073930(+) GCCTGC/TGGCAT 1 -- ds50011Minor allele frequency- T:0.05WA 118
    rs93449281,2
    C,F,A,H--90074027(+) TGATGG/TAAAAT 1 -- ds500113Minor allele frequency- T:0.21NS EA WA 1938
    rs1385392591,2
    --90074077(+) AACAGA/GATTTC 1 -- ds50010--------
    rs1440497251,2
    --90074098(+) TATAAC/TATCTA 1 -- ds50010--------
    rs1816401371,2
    --90074242(+) CCACAC/GCAGCA 1 -- ds50010--------
    rs1839406691,2
    --90074258(+) TAATAC/TCTGAA 1 -- ds50010--------
    rs1896351521,2
    --90074452(+) CAATGA/GAACAG 1 -- ut310--------
    rs1807531891,2
    --90074761(+) ATTCAA/GCTGTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RRAGD (90074335 - 90121995 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RRAGD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv526829CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608268    OMIM disorders: --

    1 disease for RRAGD:    About MalaCards
    omenn syndrome

    1 disease from the University of Copenhagen DISEASES database for RRAGD:
    Omenn syndrome

    RRAGD for disorders           About GeneDecksing

    Genetic Association Database (GAD): RRAGD
    Human Genome Epidemiology (HuGE) Navigator: RRAGD (2 documents)

    Export disorders for RRAGD 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 RRAGD gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with RRAGD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel G proteins, Rag C and Rag D, interact with GTP-binding proteins, Rag A and Rag B. (PubMed id 11073942)1, 2, 3 Sekiguchi T.... Nishimoto T. (J. Biol. Chem. 2001)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. The Rag GTPases bind raptor and mediate amino acid signaling to mTORC1. (PubMed id 18497260)1, 2 Sancak Y.... Sabatini D.M. (Science 2008)
    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. A novel human nucleolar protein, Nop132, binds to the G proteins, RRAG A/C/D. (PubMed id 14660641)1, 2 Sekiguchi T....Nishimoto T. (J. Biol. Chem. 2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    8. The folliculin tumor suppressor is a GAP for the RagC/D GTPases that signal amino acid levels to mTORC1. (PubMed id 24095279)1 Tsun Z.Y....Sabatini D.M. (Mol. Cell 2013)
    9. Leucyl-tRNA synthetase is an intracellular leucine sensor for the mTORC1-signaling pathway. (PubMed id 22424946)1 Han J.M....Kim S. (Cell 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    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: 58528 HGNC: 19903 AceView: RRAGD Ensembl:ENSG00000025039 euGenes: HUgn58528
    ECgene: RRAGD Kegg: 58528 H-InvDB: RRAGD

    (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 RRAGD 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 RRAGD gene:
    Search GeneIP for patents involving RRAGD

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



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