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ENSG00000206282 Gene

protein-coding   GIFtS: 15
GCID: GC06Mn33188          (predicted)

ENSG00000206282


  See 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
RAB2L3
RalGDS-Like 23
RalGDS-Like Factor3
Ras-Associated Protein RAB2L3

External Ids:    Ensembl: ENSG000002062827   UniProtKB: O152113   

Export aliases for ENSG00000206282 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ENSG00000206282 Gene:
ENSG00000206282 is a protein-coding gene. Diseases associated with ENSG00000206282 include normophosphatemic familial tumoral calcinosis, and familial tumoral calcinosis.

UniProtKB/Swiss-Prot: RGL2_HUMAN, O15211
Function: Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the
GTP-bound form of Rap 1A and H-Ras in vitro (By similarity)




(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:
   Search for regulatory transcription factor binding sites for ENSG00000206282
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ENSG00000206282

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENSG00000206282


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_QBLp21.32   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Mn33188:       (about GC identifiers)

Start:
33,188,277 bp from start of contig ALT_REF_LOCI_6      End:
33,196,019 bp from start of contig ALT_REF_LOCI_6
Size:
7,743 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: RGL2_HUMAN, O15211 (See protein sequence)
Recommended Name: Ral guanine nucleotide dissociation stimulator-like 2  
Size: 777 amino acids; 83549 Da
Subunit: Interacts with SAMD9
Secondary accessions: Q5STK0 Q9Y3F3

Explore the universe of human proteins at neXtProt for ENSG00000206282: NX_O15211

Explore proteomics data for ENSG00000206282 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ENSG00000206282 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000372691   ENSP00000397558   ENSP00000447602  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR008937 Ras_GEF
     IPR023578 Ras_GEF_dom
     IPR019804 Ras_G-nucl-exch_fac_CS
     IPR000651 Ras-like_Gua-exchang_fac_N
     IPR001895 RasGRF_CDC25

    Graphical View of Domain Structure for InterPro Entry O15211

    ProtoNet protein and cluster: O15211

    2 Blocks protein domains:
    IPB000159 RA domain
    IPB001895 Guanine-nucleotide dissociation stimulator CDC25


    UniProtKB/Swiss-Prot: RGL2_HUMAN, O15211
    Similarity: Contains 1 N-terminal Ras-GEF domain
    Similarity: Contains 1 Ras-associating domain
    Similarity: Contains 1 Ras-GEF domain


    Find genes that share domains with ENSG00000206282           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: RGL2_HUMAN, O15211
    Function: Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the
    GTP-bound form of Rap 1A and H-Ras in vitro (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity ----
    GO:0005088Ras guanyl-nucleotide exchange factor activity ----
         
    Find genes that share ontologies with ENSG00000206282           About GenesLikeMe


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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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    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ----
    GO:0005622intracellular ----

    Find genes that share ontologies with ENSG00000206282           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENSG00000206282
    Interactions:

        Search GeneGlobe Interaction Network for ENSG00000206282

    Selected Interacting proteins for ENSG00000206282 (O152113) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HRASP011123I2D: score=5 
    CCDC90BQ9GZT63I2D: score=4 
    EEF1GP266413I2D: score=4 
    KAT5Q929933I2D: score=4 
    KAT7O952513I2D: score=4 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction ----
    GO:0007265Ras protein signal transduction ----
    GO:0051056regulation of small GTPase mediated signal transduction ----

    Find genes that share ontologies with ENSG00000206282           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
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    Browse Tocris compounds for ENSG00000206282 (RGL2)



    (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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    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000383204(uc011jao.2 uc011jap.2) ENST00000480471(uc011jan.2)
    ENST00000472307 ENST00000480078 ENST00000487403(uc011jam.2) ENST00000487756
    ENST00000484659 ENST00000486721 ENST00000481011 ENST00000493047 ENST00000489840
    ENST00000455072 ENST00000547127(uc011jaq.2)
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    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 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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    ENSG00000206282 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENSG00000206282 Protein Expression
        Custom PCR Arrays for ENSG00000206282
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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for ENSG00000206282

    (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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      --

    ENSEMBL Gene Tree for ENSG00000206282 (if available)
    TreeFam Gene Tree for ENSG00000206282 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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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    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ENSG00000206282
    DNA2.0 Custom Variant and Variant Library Synthesis for ENSG00000206282

    (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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    2 diseases for ENSG00000206282:    
    About MalaCards
    normophosphatemic familial tumoral calcinosis    familial tumoral calcinosis


    Find genes that share disorders with ENSG00000206282           About GenesLikeMe


    Export disorders for ENSG00000206282 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 ENSG00000206282 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ENSG00000206282)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. (PubMed id 21160498)2 Hershkovitz D....Sprecher E. (J. Invest. Dermatol. 2011)
    2. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (Nature 2003)
    6. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)2 Wiemann S.... Poustka A. (Genome Res. 2001)
    7. TAPASIN, DAXX, RGL2, HKE2 and four new genes (BING 1, 3 to 5) form a dense cluster at the centromeric end of the MHC. (PubMed id 9545376)2 Herberg J.A.... Trowsdale J. (J. Mol. Biol. 1998)
    8. Isolation and mapping of RAB2L, a human cDNA that encodes a protein homologous to RalGDS. (PubMed id 8976381)2 Isomura M.... Nakamura Y. (Cytogenet. Cell Genet. 1996)

    (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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    Ensembl:ENSG00000206282

    (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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      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ENSG00000206282 gene:
    Search GeneIP for patents involving ENSG00000206282

    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
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