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

RALGPS2 Gene

protein-coding   GIFtS: 46
GCID: GC01P178694

Ral GEF with PH domain and SH3 binding motif 2

 Explore 1 disease affiliated with
RALGPS2 via our new
 Human Malady Compendium 
Biological research products
for RALGPS2
    

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

Aliases
Ral GEF With PH Domain And SH3 Binding Motif 21 2     KIAA03511
Ral GEF With PH Domain And SH3-Binding Motif 22 3     DJ595C2.11
RalA Exchange Factor RalGPS22 3     Ral-A Exchange Factor RalGPS22
FLJ102441     Ras-Specific Guanine Nucleotide-Releasing Factor RalGPS22
FLJ256041     

External Ids:    HGNC: 302791   Entrez Gene: 551032   Ensembl: ENSG000001161917   UniProtKB: Q86X273   

Export aliases for RALGPS2 gene to outside databases

Previous GC identifers: GC01P175934 GC01P175425 GC01P176960 GC01P149922


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

UniProtKB/Swiss-Prot: RGPS2_HUMAN, Q86X27
Function: Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization.
May also be involved in the stimulation of transcription in a Ras-independent fashion (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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RALGPS2 gene promoter:
         HOXA9   HOXA9B   AML1a   Pbx1a   C/EBPalpha   Gfi-1   PPAR-gamma1   Meis-1a   PPAR-gamma2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRALGPS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RALGPS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RALGPS2


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

Entrez Gene cytogenetic band: 1q25.2   Ensembl cytogenetic band:  1q25.2   HGNC cytogenetic band: 1q24

RALGPS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RALGPS2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P178694:  view genomic region     (about GC identifiers)

Start:
178,694,300 bp from pter      End:
178,889,238 bp from pter
Size:
194,939 bases      Orientation:
plus 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: RGPS2_HUMAN, Q86X27 (See protein sequence)
Recommended Name: Ras-specific guanine nucleotide-releasing factor RalGPS2  
Size: 583 amino acids; 65167 Da
Subunit: Interacts with the SH3 domains of GRB2 and PLCG1 (By similarity). Interacts with RALA (By similarity)
Subcellular location: Cytoplasm (By similarity). Cell membrane (By similarity). Note=Associates with membranes through
the PH domain (By similarity)
Sequence caution: Sequence=CAH71098.1; Type=Erroneous gene model prediction; Sequence=CAI21919.1; Type=Erroneous gene
model prediction; Sequence=CAI21925.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5T5Z1 Q5VZ67 Q9NW78
Alternative splicing: 2 isoforms:  Q86X27-1   Q86X27-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RALGPS2: NX_Q86X27

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86X27

  • RALGPS2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689876.2  
    ENSEMBL proteins: 
     ENSP00000356607   ENSP00000313613   ENSP00000405903   ENSP00000356604   ENSP00000356606  

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    Uscn Proteins for RALGPS2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--


    RALGPS2 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

    RALGPS2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR008937 Ras_GEF
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR023578 Ras_GEF_dom
     IPR001895 RasGRF_CDC25

    Graphical View of Domain Structure for InterPro Entry Q86X27

    ProtoNet protein and cluster: Q86X27

    2 Blocks protein families:
    IPB001849 Pleckstrin-like
    IPB001895 Guanine-nucleotide dissociation stimulator CDC25


    UniProtKB/Swiss-Prot: RGPS2_HUMAN, Q86X27
    Domain: The PH domain mediates binding to phosphatidylinositol 4,5-bisphosphate (By similarity)
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Ras-GEF domain


    (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: RGPS2_HUMAN, Q86X27
    Function: Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization.
    May also be involved in the stimulation of transcription in a Ras-independent fashion (By similarity)

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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:0005085guanyl-nucleotide exchange factor activity IEA--
    GO:0005543phospholipid binding IEA--


    RALGPS2 for ontologies           About GeneDecksing



    (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 RALGPS2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/20 Interacting proteins for RALGPS2 (Q86X272, 3 ENSP000003566074) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-50990 I2D: score=4 STRING: ENSP00000300161
    YWHAGP619812, 3, ENSP000003063304MINT-50886 I2D: score=4 STRING: ENSP00000306330
    SFNP319472, 3MINT-3975211 I2D: score=2 
    YWHAZP631042, 3, ENSP000003095034MINT-51015 I2D: score=4 STRING: ENSP00000309503
    TGFBR1P368973I2D: score=2 
    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--


    RALGPS2 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
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    Browse Tocris compounds for RALGPS2

    3 HMDB Compounds for RALGPS2    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--
    Search CenterWatch for drugs/clinical trials and news about RALGPS2 / RGPS2 

    (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,
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    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 RALGPS2 gene (2 alternative transcripts): 
    NM_018037.1  NM_152663.3  

    Unigene Cluster for RALGPS2:

    Ral GEF with PH domain and SH3 binding motif 2
    Hs.632485  [show with all ESTs]
    Unigene Representative Sequence: NM_152663
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000495034(uc001gly.1) ENST00000367635(uc001glz.3 uc010pnb.2)
    ENST00000324778 ENST00000477383 ENST00000415888 ENST00000480743 ENST00000367632
    ENST00000478871 ENST00000367634

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    hsa-miR-576-3p hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-3938 hsa-miR-520f hsa-miR-199a-3p hsa-miR-200a hsa-miR-30d
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK096082.1 AK098470.1 AK301753.1 BC045691.1 BC047391.1 

    8 DOTS entries:

    DT.40311839  DT.100751575  DT.75144336  DT.121429219  DT.121429252  DT.95155052  DT.100751573  DT.312907 

    24/129 AceView cDNA sequences (see all 129):

    AI073978 BX952721 AA460997 AA736698 AL701189 BU172024 BM674654 AW274297 
    CK300972 BX642897 AA641979 BQ001567 BG574393 AW590380 AA768506 BM721562 
    BM677185 AI082037 AW196376 AI220592 BQ189029 BF445405 AA721230 AI264055 

    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™, 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

    RALGPS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image

    RALGPS2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    BoneZeugopod Long BoneBone
    EyeRetinaEye
    LimbAutopodLimb
    LimbZeugopodLimb
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RALGPS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RALGPS2

    SOURCE GeneReport for Unigene cluster: Hs.632485
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    In Situ
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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 RALGPS2 gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RALGPS21 Ral GEF with PH domain and SH3 binding motif 2 85.31(n)
    95.88(a)
      424429  NM_001006532.1  NP_001006532.1 
    lizard
    (Anolis carolinensis)
    Reptilia RALGPS26
    --
    96(a)
    1 ↔ 1
    GL343300.1(612559-700528)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636502 hypothetical protein MGC63650 74.55(n)   393446  BC055185.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG55226
    --
    31(a)
    1 → many
    2R(12671196-12679981)


    ENSEMBL Gene Tree for RALGPS2 (if available)
    TreeFam Gene Tree for RALGPS2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RALGPS2 gene
    RAPGEF12  RASGRF12  RGL22  SOS22  RASGRF22  SOS12  RGL32  RALGPS12  
    RALGDS2  RGL12  RGL42  
    1 SIMAP similar gene for RALGPS2 using alignment to 3 protein entries:     RGPS2_HUMAN (see all proteins):
    RALGPS1

    RALGPS2 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

    10/2718 NCBI SNPs in RALGPS2 are shown (see all 2718    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1493102611,2
    --178692715(+) TTATAA/TCTATG 1 -- us2k10--------
    rs1847700331,2
    --178692865(+) GCCAAC/TGACAT 1 -- us2k10--------
    rs1451337241,2
    --178692986(+) ACTTG-/AAAGCA 1 -- us2k10--------
    rs1445435461,2
    --178693418(+) GTTATG/TAAAGG 1 -- us2k10--------
    rs120267821,2
    C,--178693459(+) TATTGG/TTCCTT 1 -- us2k1 tfbs33Minor allele frequency- T:0.04NA EA 242
    rs1156513841,2
    C,F,--178693602(+) GCTCAC/TTTAAA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs2000722681,2
    --178693611(+) AAACC-/TTCCGT 1 -- us2k10--------
    rs1381578671,2
    --178693614(+) CCTTCC/TGTTAA 1 -- us2k10--------
    rs351559551,2
    C,F,--178693662(+) GCCACC/TCATTT 1 -- us2k16Minor allele frequency- T:0.11NA CSA WA 246
    rs1148164731,2
    F,--178693760(+) GGCCTA/TCTTCT 1 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for RALGPS2 (178694300 - 178889238 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RALGPS2: --

    SABiosciences Cancer Mutation PCR Assays
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    (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

    RALGPS2 for disorders           About GeneDecksing

    UniProtKB/Swiss-Prot: RGPS2_HUMAN, Q86X27
  • Note=RALGPS2 is a potential candidate gene for susceptibility to Alzheimer disease linked to 1q24

  • 1 disease for RALGPS2:    About MalaCards
    alzheimer's disease


    Export disorders for RALGPS2 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 RALGPS2 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with RALGPS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. A growing family of guanine nucleotide exchange facto rs is responsible for activation of Ras-family GTPases. (PubMed id 12102558)1, 3 Quilliam L.A....Castro A.F. (2002)
    3. Identification and characterization of a new family of guanine nucleotide exchange factors for the ras-related GTPase Ral. (PubMed id 10747847)1, 3 Rebhun J.F....Quilliam L.A. (2000)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (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. Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment. (PubMed id 19367720)2 Carrascal M.... Abian J. (2008)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. (PubMed id 17564960)2 Liu F....van Duijn C.M. (2007)
    10. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55103 HGNC: 30279 AceView: RALGPS2 Ensembl:ENSG00000116191 euGenes: HUgn55103
    ECgene: RALGPS2 H-InvDB: RALGPS2

    (According to HUGE)
    About This Section
    HUGE: KIAA0351

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RALGPS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RALGPS2 gene:
    Search GeneIP for patents involving RALGPS2

    GeneCards and IP:
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