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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DIRAS2 Gene

protein-coding   GIFtS: 48
GCID: GC09M093379

DIRAS family, GTP-binding RAS-like 2

  Search for DIRAS2
in our new
 Human Malady Compendium 
Biological research products
for DIRAS2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
DIRAS Family, GTP-Binding RAS-Like 21 2
Di-Ras21 2
Distinct Subgroup Of The Ras Family Member 22 3
DKFZp761C071211
GTP-Binding Protein Di-Ras22

External Ids:    HGNC: 193231   Entrez Gene: 547692   Ensembl: ENSG000001650237   OMIM: 6078635   UniProtKB: Q96HU83   

Export aliases for DIRAS2 gene to outside databases

Previous GC identifers: GC09M085101 GC09M086672 GC09M088716 GC09M088717 GC09M090451 GC09M092411 GC09M093373 GC09M063052 GC09M093374


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DIRAS2:
DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric
GTPases.(supplied by OMIM, Apr 2004)

UniProtKB/Swiss-Prot: DIRA2_HUMAN, Q96HU8
Function: Displays low GTPase activity and exist predominantly in the GTP-bound form




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DIRAS2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDIRAS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for DIRAS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIRAS2


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

Entrez Gene cytogenetic band: 9q22.2   Ensembl cytogenetic band:  9q22.2   HGNC cytogenetic band: 9q22.32

DIRAS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIRAS2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M093379:  view genomic region     (about GC identifiers)

Start:
93,372,114 bp from pter      End:
93,405,386 bp from pter
Size:
33,273 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DIRA2_HUMAN, Q96HU8 (See protein sequence)
Recommended Name: GTP-binding protein Di-Ras2 precursor  
Size: 199 amino acids; 22485 Da
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
1 PDB 3D structure from and Proteopedia for DIRAS2:
2ERX (3D)    
Secondary accessions: B3KVM2

Explore the universe of human proteins at neXtProt for DIRAS2: NX_Q96HU8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96HU8

  • DIRAS2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060064.2  
    ENSEMBL proteins: 
     ENSP00000364919  

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    Uscn Proteins for DIRAS2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--


    DIRAS2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DIRAS2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR020849 Small_GTPase_Ras

    Graphical View of Domain Structure for InterPro Entry Q96HU8

    ProtoNet protein and cluster: Q96HU8

    2 Blocks protein families:
    IPB001806 Transforming protein P21 RAS signature
    IPB003577 Ras small GTPase


    UniProtKB/Swiss-Prot: DIRA2_HUMAN, Q96HU8
    Similarity: Belongs to the small GTPase superfamily. Di-Ras family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DIRA2_HUMAN, Q96HU8
    Function: Displays low GTPase activity and exist predominantly in the GTP-bound form

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005525GTP binding IEA--


    DIRAS2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for DIRAS2:
     Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DIRAS2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for DIRAS2 (Q96HU83 ENSP000003649194) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    YWHABP319463I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction IEA--


    DIRAS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DIRAS2

    1 HMDB Compound for DIRAS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Search CenterWatch for drugs/clinical trials and news about DIRAS2 / DIRA2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DIRAS2 gene: 
    NM_017594.3  

    Unigene Cluster for DIRAS2:

    DIRAS family, GTP-binding RAS-like 2
    Hs.165636  [show with all ESTs]
    Unigene Representative Sequence: NM_017594
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000375765(uc004aqx.1)

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    hsa-miR-607 hsa-miR-765 hsa-miR-128 hsa-miR-218 hsa-miR-548l hsa-miR-374c hsa-miR-186 hsa-miR-3613-3p
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    Additional cDNA sequence: 

    AB076889.1 AK122986.1 AK124628.1 AL137308.1 BC008065.2 

    7 DOTS entries:

    DT.308389  DT.101973914  DT.121173410  DT.121173429  DT.70100284  DT.70103487  DT.121173371 

    24/59 AceView cDNA sequences (see all 59):

    NM_017594 AI266194 BM679220 AB076889 BX105476 AK122986 AA084085 AI249696 
    AK124628 BE206376 R47868 BM722569 CK300867 BP360709 AW264190 BC008065 
    BM671331 H29469 AA321982 BM692773 BX509615 BG702913 AA325427 AA716060 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DIRAS2    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d
    SP1:                    -           -                           
    SP2:                    -                                       
    SP3:                    -     -     -                           
    SP4:                          -     -                           


    ECgene alternative splicing isoforms for DIRAS2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DIRAS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTTTTATAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    DIRAS2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeVisceral White AdipocytesAdipose
    LimbForelimb MyotomeLimb Muscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)

    See DIRAS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DIRAS2

    SOURCE GeneReport for Unigene cluster: Hs.165636

    UniProtKB/Swiss-Prot: DIRA2_HUMAN, Q96HU8
    Tissue specificity: Highly expressed in brain

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    In Situ
    Assay Products:
     

     
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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DIRAS2 gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DIRAS21 DIRAS family, GTP-binding RAS-like 2 80.57(n)
    93.47(a)
      425241  XM_423026.3  XP_423026.1 
    lizard
    (Anolis carolinensis)
    Reptilia DIRAS26
    --
    90(a)
    1 ↔ 1
    2(32192591-32193190)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5609401 GTP-binding protein Di-Ras2-like 81.07(n)
    89.45(a)
      560940  XM_684340.4  XP_689432.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG85001 CG8500 70.83(n)
    77.6(a)
      41203  NM_141691.1  NP_649948.1 
    worm
    (Caenorhabditis elegans)
    Secernentea drn-16
    Di-Ras/Rig/Noey2 Ras-like protein homolog family m...
    52(a)
    possible ortholog
    II(5270349-5271807)


    ENSEMBL Gene Tree for DIRAS2 (if available)
    TreeFam Gene Tree for DIRAS2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DIRAS2 gene
    RAP2C2  RASL10B2  DIRAS12  RAP1B2  RASD22  RAP2A2  RAP1A2  RAP2B2  
    RASD12  RASL10A2  DIRAS32  
    18/60 SIMAP similar genes for DIRAS2 using alignment to 2 protein entries:     DIRA2_HUMAN (see all proteins) (see all similar genes):
    DIRAS1    RAP2A    DKFZp547A0616    RAP2B    RAP2C    RAP1B
    DIRAS3    RAP1A    HRAS    c-bas/has    RHEB    RASD2
    RHEBL1    KRAS    RIT1    RIT2    NRAS    RRAS

    DIRAS2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/578 NCBI SNPs in DIRAS2 are shown (see all 578    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2006098121,2
    --93371806(+) GGATT-/AAAAAA 1 -- ds50010--------
    rs1928963111,2
    --93371888(+) TCTCAC/TCTTAA 1 -- ds50010--------
    rs802745051,2
    C,F,--93371890(+) TCACCT/GTAACC 1 -- ds50011Minor allele frequency- G:0.04NA 120
    rs1849664541,2
    --93372077(+) CTAGAC/TCAGCT 1 -- ds50010--------
    rs115396151,2
    C,H--93372226(-) TTATAT/CTTTAT 1 -- ut312Minor allele frequency- C:0.01NS NA 102
    rs1893690931,2
    --93372228(+) AAAATA/GTAATA 1 -- ut310--------
    rs78544691,2
    C,F,A,H,--93372229(+) AAATAT/AAATAG 1 -- ut3111Minor allele frequency- A:0.16NS EA NA WA CSA 778
    rs1151160101,2
    C,F,--93372349(+) GGGGTA/GTGAAT 1 -- ut311Minor allele frequency- G:0.03WA 118
    rs1810186481,2
    --93372478(+) ATTTTA/TAAAAT 1 -- ut310--------
    rs1397977991,2
    --93372490(+) TTTAAC/TACATT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DIRAS2 (93372114 - 93405386 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DIRAS2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIRAS2
    DNA2.0 Custom Variant and Variant Library Synthesis for DIRAS2

    (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.)
    About This Section

    DIRAS2 for disorders           About MalaCards

    DIRAS2 for disorders           About GeneDecksing

    OMIM gene information: 607863    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: DIRAS2 (1 document)

    Export disorders for DIRAS2 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)
    About This Section

    PubMed articles for DIRAS2 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with DIRAS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Di-Ras, a distinct subgroup of ras family GTPases with unique biochemical properties. (PubMed id 12194967)1, 2, 3 Kontani K.... Katada T. (2002)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    5. DIRAS2 is associated with adult ADHD, related traits, and co-morbid disorders. (PubMed id 21750579)1 Reif A....Lesch K.P. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    9. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1 Melzer D....Ferrucci L. (2008)
    10. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PubMed id 17903297)1 Seshadri S....Wolf P.A. (2007)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54769 HGNC: 19323 AceView: DIRAS2 Ensembl:ENSG00000165023 euGenes: HUgn54769
    ECgene: DIRAS2 H-InvDB: DIRAS2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for DIRAS2 Pharmacogenomics, SNPs, Pathways

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