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RAPGEF6 Gene

protein-coding   GIFtS: 58
GCID: GC05M130759

Rap Guanine Nucleotide Exchange Factor (GEF) 6

(Previous name: PDZ domain containing guanine nucleotide exchange factor...)
(Previous symbol: PDZGEF2)
  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
Rap Guanine Nucleotide Exchange Factor (GEF) 61 2     PDZ Domain-Containing Guanine Nucleotide Exchange Factor 22 3
PDZGEF21 2 3 5     RAGEF22 5
PDZ Domain Containing Guanine Nucleotide Exchange Factor (GEF) 21 2     KIA001LB2
PDZ-GEF22 3     PDZ Domain-Containing Guanine Nucleotide Exchange Factor I2
RA-GEF-22 3     Rap Guanine Nucleotide Exchange Factor 62

External Ids:    HGNC: 206551   Entrez Gene: 517352   Ensembl: ENSG000001589877   OMIM: 6104995   UniProtKB: Q8TEU73   

Export aliases for RAPGEF6 gene to outside databases

Previous GC identifers: GC05M130838 GC05M130789 GC05M125950


(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 RAPGEF6 Gene:
RAPGEF6 (Rap guanine nucleotide exchange factor (GEF) 6) is a protein-coding gene. Diseases associated with RAPGEF6 include schizophrenia. GO annotations related to this gene include GTP-dependent protein binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is RAPGEFL1.

UniProtKB/Swiss-Prot: RPGF6_HUMAN, Q8TEU7
Function: Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP

Gene Wiki entry for RAPGEF6 Gene


(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_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAPGEF6 gene promoter:
         GR   Egr-3   C/EBPbeta   Evi-1   YY1   Egr-4   FOXL1   CREB   deltaCREB   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAPGEF6 promoter sequence
   Search Chromatin IP Primers for RAPGEF6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAPGEF6


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

Entrez Gene cytogenetic band: 5q31.1   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31.1

RAPGEF6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAPGEF6 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M130759:  view genomic region     (about GC identifiers)

Start:
130,759,614 bp from pter      End:
130,970,929 bp from pter
Size:
211,316 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: RPGF6_HUMAN, Q8TEU7 (See protein sequence)
Recommended Name: Rap guanine nucleotide exchange factor 6  
Size: 1601 amino acids; 179423 Da
Subunit: Interacts with the second PDZ domain of human PTP1e
2 PDB 3D structures from and Proteopedia for RAPGEF6:
2D93 (3D)        3LNY (3D)    
Secondary accessions: A3KN82 A5PLL6 B7ZML2 E9PDV7 Q8NI21 Q8TEU6 Q96PC1
Alternative splicing: 6 isoforms:  Q8TEU7-1   Q8TEU7-2   Q8TEU7-3   Q8TEU7-4   Q8TEU7-5   Q8TEU7-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAPGEF6: NX_Q8TEU7

Explore proteomics data for RAPGEF6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RAPGEF6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001157858.1  NP_001157859.1  NP_001157860.1  NP_001157861.1  NP_001157862.1  NP_057424.3  

    ENSEMBL proteins: 
     ENSP00000421684   ENSP00000426081   ENSP00000296859   ENSP00000426910   ENSP00000311419  
     ENSP00000425772   ENSP00000425389   ENSP00000424574   ENSP00000425891   ENSP00000427102  
     ENSP00000309298  

    RAPGEF6 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for RAPGEF6


    (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 9):
     IPR008937 Ras_GEF
     IPR018490 cNMP-bd-like
     IPR023578 Ras_GEF_dom
     IPR001895 RasGRF_CDC25
     IPR000159 Ras-assoc

    Graphical View of Domain Structure for InterPro Entry Q8TEU7

    ProtoNet protein and cluster: Q8TEU7

    4 Blocks protein domains:
    IPB000159 RA domain
    IPB000595 Cyclic nucleotide-binding domain
    IPB001478 PDZ/DHR/GLGF domain
    IPB001895 Guanine-nucleotide dissociation stimulator CDC25


    UniProtKB/Swiss-Prot: RPGF6_HUMAN, Q8TEU7
    Similarity: Contains 1 cyclic nucleotide-binding domain
    Similarity: Contains 1 N-terminal Ras-GEF domain
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 1 Ras-associating domain
    Similarity: Contains 1 Ras-GEF domain


    RAPGEF6 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: RPGF6_HUMAN, Q8TEU7
    Function: Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IDA11524421
    GO:0005515protein binding IPI12095257
    GO:0017016Ras GTPase binding IDA11524421
    GO:0030742GTP-dependent protein binding IDA11524421
         
    RAPGEF6 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for RAPGEF6:
     Decreased G3BP1 protein expres  Synthetic lethal with c-Myc af 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rapgef6):
     cellular  hematopoietic system  immune system  no phenotypic analysis 

    RAPGEF6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rapgef6tm1.1Tkat for RAPGEF6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RAPGEF6
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RAPGEF6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAPGEF6

    miRNA
    Products:
        
    miRTarBase miRNAs that target RAPGEF6:
    hsa-mir-940 (MIRT036590), hsa-mir-21-5p (MIRT030847)

    Block miRNA regulation of human, mouse, rat RAPGEF6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAPGEF6 (see all 31):
    hsa-miR-217 hsa-miR-495 hsa-miR-4328 hsa-miR-522 hsa-miR-202 hsa-miR-4263 hsa-miR-410 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidRAPGEF6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RAPGEF6
    Predesigned siRNA for gene silencing in human, mouse, rat RAPGEF6

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for RAPGEF6 (see all 33)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): RAPGEF6 (NM_016340)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAPGEF6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAPGEF6

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for RAPGEF6 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPGEF6


    (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
    RPGF6_HUMAN, Q8TEU7: Cytoplasm. Cell membrane. Note=Upon binding to M-Ras, it translocates to the plasma membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    nucleus3
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IDA11524421

    RAPGEF6 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 RAPGEF6 About    
    See pathways by source

    SuperPathContained pathways About
    1Ras signaling pathway
    Rap1 signaling pathway0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for RAPGEF6):
        Rap1 signaling pathway


    RAPGEF6 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAPGEF6
    Interactions:

        GeneGlobe Interaction Network for RAPGEF6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for RAPGEF6 (Q8TEU71, 2, 3 ENSP000002968594) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN13Q129231, 2, 3, ENSP000003947944EBI-2693017,EBI-355227 MINT-8311478 MINT-8311520 MINT-8311503 I2D: score=1 STRING: ENSP00000394794
    MRASO148073, ENSP000002891044I2D: score=2 STRING: ENSP00000289104
    RAP1AP628343, ENSP000003487864I2D: score=2 STRING: ENSP00000348786
    ABCA1O954773, ENSP000003638684I2D: score=1 STRING: ENSP00000363868
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    About this table

    Gene Ontology (GO): 5 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 NAS11524421
    GO:0043087regulation of GTPase activity NAS11524421
    GO:0051056regulation of small GTPase mediated signal transduction IEA--

    RAPGEF6 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 RAPGEF6 (RPGF6)

    4 HMDB Compounds for RAPGEF6    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    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 RAPGEF6 gene (6 alternative transcripts): 
    NM_001164386.1  NM_001164387.1  NM_001164388.1  NM_001164389.1  NM_001164390.1  NM_016340.5  

    Unigene Cluster for RAPGEF6:

    Rap guanine nucleotide exchange factor (GEF) 6
    Hs.483329  [show with all ESTs]
    Unigene Representative Sequence: NM_001164386
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000509018(uc003kvm.2 uc010jdi.2 uc003kvn.2 uc003kvp.2)
    ENST00000512611 ENST00000507093 ENST00000296859 ENST00000512052(uc003kvq.3)
    ENST00000308008(uc011cxe.2 uc003kvr.3) ENST00000515170 ENST00000510071(uc010jdk.3)
    ENST00000504919 ENST00000514179 ENST00000513227 ENST00000504575 ENST00000504039
    ENST00000503398 ENST00000307984(uc003kvo.2 uc010jdj.2)
    miRNA
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    Block miRNA regulation of human, mouse, rat RAPGEF6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAPGEF6 (see all 31):
    hsa-miR-217 hsa-miR-495 hsa-miR-4328 hsa-miR-522 hsa-miR-202 hsa-miR-4263 hsa-miR-410 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidRAPGEF6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RAPGEF6
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    GenScript: all cDNA clones in your preferred vector (see all 6): RAPGEF6 (NM_016340)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat RAPGEF6
      QuantiFast Probe-based Assays in human, mouse, rat RAPGEF6

    Additional mRNA sequence: 

    AF085846.1 AF394782.1 AF478468.1 AF478469.1 AF478567.1 AK056296.1 AK074318.1 AK302640.1 
    AL832899.1 BC133703.1 BC140820.1 BC142964.1 BC144627.1 BX649095.1 

    17 DOTS entries:

    DT.95338742  DT.442313  DT.215318  DT.101967566  DT.406025  DT.95269706  DT.91640537  DT.427424 
    DT.437867  DT.91699017  DT.102833188  DT.120807318  DT.120807339  DT.95185759  DT.95293174  DT.100007947 
    DT.92020518 

    Selected AceView cDNA sequences (see all 244):

    CA449088 CD107125 AA442511 BC020539 BF509591 AW271815 AA902919 AW297496 
    AA831692 CA950363 AA287000 AA806717 CA389429 BQ441057 AA258969 AA741126 
    BE302207 AK056296 AI307128 BC001956 H69674 BP362953 AI523202 AA825481 

    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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    RAPGEF6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RAPGEF6 Expression
    About this image


    RAPGEF6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Eye (Sensory Organs)
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)
             Medulla Oblongata
    RAPGEF6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAPGEF6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.483329

    UniProtKB/Swiss-Prot: RPGF6_HUMAN, Q8TEU7
    Tissue specificity: Isoform 3 has highest expression levels in the brain, heart, liver, lung and placenta and is
    barely detectable in skeletal muscle, kidney and pancreas

        Custom PCR Arrays for RAPGEF6
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    QuantiFast Probe-based Assays in human, mouse, rat RAPGEF6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPGEF6

    (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.

    Orthologs for RAPGEF6 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rapgef61 , 5 Rap guanine nucleotide exchange factor (GEF) 61, 5 89.15(n)1
    91.61(a)1
      11 (32.13 cM)5
    1927861  NM_175258.41  NP_780467.21 
     545228475 
    chicken
    (Gallus gallus)
    Aves RAPGEF61 Rap guanine nucleotide exchange factor (GEF) 6 77.48(n)
    83.52(a)
      101751943  XM_004945005.1  XP_004945062.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    79(a)
    1 → many
    2(128689357-128941628)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.283202 Xenopus laevis transcribed sequence with weak similarity more 81.94(n)    BJ082141.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rapgef61 Rap guanine nucleotide exchange factor (GEF) 6 65.53(n)
    72.69(a)
      335032  XM_002666094.3  XP_002666140.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gef266
    Gef26
    35(a)
    1 → many
    2L(6323767-6332789)
    worm
    (Caenorhabditis elegans)
    Secernentea pxf-11 pxf-1 50.48(n)
    42.65(a)
      177894  NM_001028218.4  NP_001023389.1 


    ENSEMBL Gene Tree for RAPGEF6 (if available)
    TreeFam Gene Tree for RAPGEF6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAPGEF6 gene
    RAPGEFL12  RAPGEF22  RASGEF1A2  RAPGEF32  RASGEF1C2  RAPGEF42  ENSG000002732172  RASGEF1B2  
    RAPGEF52  
    6 SIMAP similar genes for RAPGEF6 using alignment to 7 protein entries:     RPGF6_HUMAN (see all proteins):
    KIA001LB    DKFZp586O1422    RAPGEF2    PDZGEF1    RAPGEF4    RAPGEF3

    RAPGEF6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RAPGEF6
    PGOHUM00000248515


    (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 RAPGEF6 (see all 3896)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs710009981,2
    C--126123837(-) TGACT-/TAAAG 
            
    TAAGC
    6 -- int11Minor allele frequency- TAAAG:0.00NA 2
    rs1433551441,2
    C--130759192(+) TTGCGA/TAGAAA 4 -- int10--------
    rs1859745141,2
    --130759273(+) GCATCA/GTGGAG 4 -- int10--------
    rs1467635751,2
    --130759319(+) AGACTC/TTTCTA 4 -- int10--------
    rs1119952461,2
    C,F--130759457(+) CAGATG/TTGACA 4 -- int11Minor allele frequency- T:0.50CSA 2
    rs1445260261,2
    C--130759462(+) TGACA-/TTAACC 4 -- int10--------
    rs354249691,2
    C,F--130759464(+) GACATA/TACCAA 4 -- int11Minor allele frequency- T:0.00NA 2
    rs1998828461,2
    --130759464(+) ACATA-/TACCAA 4 -- int10--------
    rs1829712011,2
    --130759472(+) CAACAA/GCAAAT 4 -- int10--------
    rs1884414191,2
    --130759646(+) CAATGC/TATTAG 4 -- ut310--------

    HapMap Linkage Disequilibrium report for RAPGEF6 (130759614 - 130970929 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RAPGEF6 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2730775CNV Deletion23290073
    esv2730777CNV Deletion23290073
    esv2730779CNV Deletion23290073
    esv2586698CNV Deletion19546169
    esv3284CNV Deletion18987735
    esv2730776CNV Deletion23290073
    esv2730774CNV Deletion23290073
    esv2730778CNV Deletion23290073
    esv273494CNV Insertion20981092
    esv1452882CNV Insertion17803354

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RAPGEF6
    DNA2.0 Custom Variant and Variant Library Synthesis for RAPGEF6

    (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: 610499    OMIM disorders: --

    1 disease for RAPGEF6:    
    About MalaCards
    schizophrenia


    RAPGEF6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RAPGEF6
    Human Genome Epidemiology (HuGE) Navigator: RAPGEF6 (2 documents)

    Export disorders for RAPGEF6 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 RAPGEF6 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with RAPGEF6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of RA-GEF-2, a Rap guanine nucleotide exchange factor that serves as a downstream target of M- Ras. (PubMed id 11524421)1, 2, 3 Gao X.... Kataoka T. (J. Biol. Chem. 2001)
    2. Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese. (PubMed id 18718982)1, 4 Luo X.J....Su B. (J. Med. Genet. 2008)
    3. Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. (PubMed id 18804346)1, 4 Edwards T.L....Chen X. (Schizophr. Res. 2008)
    4. Characterisation of PDZ-GEFs, a family of guanine nucleotide exchange factors specific for Rap1 and Rap2. (PubMed id 12581858)1, 2 Kuiperij H.B.... Zwartkruis F.J.T. (Biochim. Biophys. Acta 2003)
    5. Solution structure of the PDZ2 domain from cytosolic human phosphatase hPTP1E complexed with a peptide reveals contribution of the beta2-beta3 loop to PDZ domain-ligand interactions. (PubMed id 12095257)1, 3 Kozlov G.... Ekiel I. (J. Mol. Biol. 2002)
    6. Junctional adhesion molecule A interacts with Afadin and PDZ-GEF2 to activate Rap1A, regulate beta1 integrin levels, and enhance cell migration. (PubMed id 19176753)1, 9 Severson E.A....Parkos C.A. (Mol. Biol. Cell 2009)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (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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    Entrez Gene: 51735 HGNC: 20655 AceView: RAPGEF6 Ensembl:ENSG00000158987 euGenes: HUgn51735
    ECgene: RAPGEF6 Kegg: 51735 H-InvDB: RAPGEF6

    (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 RAPGEF6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAPGEF6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RAPGEF6 gene:
    Search GeneIP for patents involving RAPGEF6

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



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